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Human genome – Wikipedia

The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome, and the mitochondrial genome.[1] Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%),[2] these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%[3]) and bonobos.

The first human genome sequences were published in nearly complete draft form in February 2001 by the Human Genome Project[4] and Celera Corporation.[5] Completion of the Human Genome Project Sequence was published in 2004.[6] The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. This data is used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.

Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.

There are an estimated 19,000-20,000 human protein-coding genes.[7] The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further.[6][8] Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been determined.[9]

In June 2016, scientists formally announced HGP-Write, a plan to synthesize the human genome.[10][11]

The total length of the human genome is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, plus the X chromosome (one in males, two in females) and, in males only, one Y chromosome. These are all large linear DNA molecules contained within the cell nucleus. The genome also includes the mitochondrial DNA, a comparatively small circular molecule present in each mitochondrion. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. (Data source: Ensembl genome browser release 87, December 2016 for most values; Ensembl genome browser release 68, July 2012 for miRNA, rRNA, snRNA, snoRNA.)

Table 1 (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Chromosome lengths were estimated by multiplying the number of base pairs by 0.34 nanometers, the distance between base pairs in the DNA double helix. A recent estimation of human chromosome lengths based on updated data reports 205.00 cm for the diploid male genome and 208.23 cm for female, corresponding to weights of 6.41 and 6.51 picograms (pg), respectively.[12] The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.

Variations are unique DNA sequence differences that have been identified in the individual human genome sequences analyzed by Ensembl as of December, 2016. The number of identified variations is expected to increase as further personal genomes are sequenced and analyzed. In addition to the gene content shown in this table, a large number of non-expressed functional sequences have been identified throughout the human genome (see below). Links open windows to the reference chromosome sequences in the EBI genome browser.

Small non-coding RNAs are RNAs of as many as 200 bases that do not have protein-coding potential. These include: microRNAs, or miRNAs (post-transcriptional regulators of gene expression), small nuclear RNAs, or snRNAs (the RNA components of spliceosomes), and small nucleolar RNAs, or snoRNA (involved in guiding chemical modifications to other RNA molecules). Long non-coding RNAs are RNA molecules longer than 200 bases that do not have protein-coding potential. These include: ribosomal RNAs, or rRNAs (the RNA components of ribosomes), and a variety of other long RNAs that are involved in regulation of gene expression, epigenetic modifications of DNA nucleotides and histone proteins, and regulation of the activity of protein-coding genes. Small discrepancies between total-small-ncRNA numbers and the numbers of specific types of small ncNRAs result from the former values being sourced from Ensembl release 87 and the latter from Ensembl release 68.

Although the human genome has been completely sequenced for all practical purposes, there are still hundreds of gaps in the sequence. A recent study noted more than 160 euchromatic gaps of which 50 gaps were closed.[13] However, there are still numerous gaps in the heterochromatic parts of the genome which is much harder to sequence due to numerous repeats and other intractable sequence features.

The human reference genome (GRC v38) has been successfully compressed to ~5.2-fold (marginally less than 550 MB) in 155 minutes using a desktop computer with 6.4 GB of RAM.[14]

The haploid human genome (23 chromosomes) is about 3 billion base pairs long and contains around 30,000 genes.[15] Since every base pair can be coded by 2 bits, this is about 750 megabytes of data. An individual somatic (diploid) cell contains twice this amount, that is, about 6 billion base pairs. Men have fewer than women because the Y chromosome is about 57 million base pairs whereas the X is about 156 million, but in terms of information men have more because the second X contains almost the same information as the first[citation needed]. Since individual genomes vary in sequence by less than 1% from each other, the variations of a given human's genome from a common reference can be losslessly compressed to roughly 4 megabytes.[16]

The entropy rate of the genome differs significantly between coding and non-coding sequences. It is close to the maximum of 2 bits per base pair for the coding sequences (about 45 million base pairs), but less for the non-coding parts. It ranges between 1.5 and 1.9 bits per base pair for the individual chromosome, except for the Y-chromosome, which has an entropy rate below 0.9 bits per base pair.[17]

The content of the human genome is commonly divided into coding and noncoding DNA sequences. Coding DNA is defined as those sequences that can be transcribed into mRNA and translated into proteins during the human life cycle; these sequences occupy only a small fraction of the genome (<2%). Noncoding DNA is made up of all of those sequences (ca. 98% of the genome) that are not used to encode proteins.

Some noncoding DNA contains genes for RNA molecules with important biological functions (noncoding RNA, for example ribosomal RNA and transfer RNA). The exploration of the function and evolutionary origin of noncoding DNA is an important goal of contemporary genome research, including the ENCODE (Encyclopedia of DNA Elements) project, which aims to survey the entire human genome, using a variety of experimental tools whose results are indicative of molecular activity.

Because non-coding DNA greatly outnumbers coding DNA, the concept of the sequenced genome has become a more focused analytical concept than the classical concept of the DNA-coding gene.[18][19]

Protein-coding sequences represent the most widely studied and best understood component of the human genome. These sequences ultimately lead to the production of all human proteins, although several biological processes (e.g. DNA rearrangements and alternative pre-mRNA splicing) can lead to the production of many more unique proteins than the number of protein-coding genes.

The complete modular protein-coding capacity of the genome is contained within the exome, and consists of DNA sequences encoded by exons that can be translated into proteins. Because of its biological importance, and the fact that it constitutes less than 2% of the genome, sequencing of the exome was the first major milepost of the Human Genome Project.

Number of protein-coding genes. About 20,000 human proteins have been annotated in databases such as Uniprot.[21] Historically, estimates for the number of protein genes have varied widely, ranging up to 2,000,000 in the late 1960s,[22] but several researchers pointed out in the early 1970s that the estimated mutational load from deleterious mutations placed an upper limit of approximately 40,000 for the total number of functional loci (this includes protein-coding and functional non-coding genes).[23]

The number of human protein-coding genes is not significantly larger than that of many less complex organisms, such as the roundworm and the fruit fly. This difference may result from the extensive use of alternative pre-mRNA splicing in humans, which provides the ability to build a very large number of modular proteins through the selective incorporation of exons.

Protein-coding capacity per chromosome. Protein-coding genes are distributed unevenly across the chromosomes, ranging from a few dozen to more than 2000, with an especially high gene density within chromosomes 19, 11, and 1 (Table 1). Each chromosome contains various gene-rich and gene-poor regions, which may be correlated with chromosome bands and GC-content.[24] The significance of these nonrandom patterns of gene density is not well understood[25]

Size of protein-coding genes. The size of protein-coding genes within the human genome shows enormous variability (Table 2). The median size of a protein-coding gene is 26,288 bp (mean = 66,577 bp; Table 2 in [26]). For example, the gene for histone H1a (HIST1HIA) is relatively small and simple, lacking introns and encoding mRNA sequences of 781 nt and a 215 amino acid protein (648 nt open reading frame). Dystrophin (DMD) is the largest protein-coding gene in the human reference genome, spanning a total of 2.2 MB, while Titin (TTN) has the longest coding sequence (114,414 bp), the largest number of exons (363),[27] and the longest single exon (17,106 bp). Over the whole genome, the median size of an exon is 122 bp (mean = 145 bp), the median number of exons is 7 (mean = 8.8), and the median coding sequence encodes 367 amino acids (mean = 447 amino acids; Table 21 in[9] ).

Table 2. Examples of human protein-coding genes. Chrom, chromosome. Alt splicing, alternative pre-mRNA splicing. (Data source: Ensembl genome browser release 68, July 2012)

Recently, a systematic meta-analysis of updated data of the human genome [26] found that the largest protein-coding gene in the human reference genome is RBFOX1 (RNA binding protein, fox-1 homolog 1), spanning a total of 2.47 MB. Over the whole genome, considering a curated set of protein-coding genes, the median size of an exon is currently estimated to be 133 bp (mean = 309 bp), the median number of exons is currently estimated to be 8 (mean = 11), and the median coding sequence is currently estimated to encode 425 amino acids (mean = 553 amino acids; Tables 2 and 5 in[26]).

Noncoding DNA is defined as all of the DNA sequences within a genome that are not found within protein-coding exons, and so are never represented within the amino acid sequence of expressed proteins. By this definition, more than 98% of the human genomes is composed of ncDNA.

Numerous classes of noncoding DNA have been identified, including genes for noncoding RNA (e.g. tRNA and rRNA), pseudogenes, introns, untranslated regions of mRNA, regulatory DNA sequences, repetitive DNA sequences, and sequences related to mobile genetic elements.

Numerous sequences that are included within genes are also defined as noncoding DNA. These include genes for noncoding RNA (e.g. tRNA, rRNA), and untranslated components of protein-coding genes (e.g. introns, and 5' and 3' untranslated regions of mRNA).

Protein-coding sequences (specifically, coding exons) constitute less than 1.5% of the human genome.[9] In addition, about 26% of the human genome is introns.[28] Aside from genes (exons and introns) and known regulatory sequences (820%), the human genome contains regions of noncoding DNA. The exact amount of noncoding DNA that plays a role in cell physiology has been hotly debated. Recent analysis by the ENCODE project indicates that 80% of the entire human genome is either transcribed, binds to regulatory proteins, or is associated with some other biochemical activity.[8]

It however remains controversial whether all of this biochemical activity contributes to cell physiology, or whether a substantial portion of this is the result transcriptional and biochemical noise, which must be actively filtered out by the organism.[29] Excluding protein-coding sequences, introns, and regulatory regions, much of the non-coding DNA is composed of:Many DNA sequences that do not play a role in gene expression have important biological functions. Comparative genomics studies indicate that about 5% of the genome contains sequences of noncoding DNA that are highly conserved, sometimes on time-scales representing hundreds of millions of years, implying that these noncoding regions are under strong evolutionary pressure and positive selection.[30]

Many of these sequences regulate the structure of chromosomes by limiting the regions of heterochromatin formation and regulating structural features of the chromosomes, such as the telomeres and centromeres. Other noncoding regions serve as origins of DNA replication. Finally several regions are transcribed into functional noncoding RNA that regulate the expression of protein-coding genes (for example[31] ), mRNA translation and stability (see miRNA), chromatin structure (including histone modifications, for example[32] ), DNA methylation (for example[33] ), DNA recombination (for example[34] ), and cross-regulate other noncoding RNAs (for example[35] ). It is also likely that many transcribed noncoding regions do not serve any role and that this transcription is the product of non-specific RNA Polymerase activity.[29]

Pseudogenes are inactive copies of protein-coding genes, often generated by gene duplication, that have become nonfunctional through the accumulation of inactivating mutations. Table 1 shows that the number of pseudogenes in the human genome is on the order of 13,000,[36] and in some chromosomes is nearly the same as the number of functional protein-coding genes. Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution.

For example, the olfactory receptor gene family is one of the best-documented examples of pseudogenes in the human genome. More than 60 percent of the genes in this family are non-functional pseudogenes in humans. By comparison, only 20 percent of genes in the mouse olfactory receptor gene family are pseudogenes. Research suggests that this is a species-specific characteristic, as the most closely related primates all have proportionally fewer pseudogenes. This genetic discovery helps to explain the less acute sense of smell in humans relative to other mammals.[37]

Noncoding RNA molecules play many essential roles in cells, especially in the many reactions of protein synthesis and RNA processing. Noncoding RNA include tRNA, ribosomal RNA, microRNA, snRNA and other non-coding RNA genes including about 60,000 long non coding RNAs (lncRNAs).[8][38][39][40] Although the number of reported lncRNA genes continues to rise and the exact number in the human genome is yet to be defined, many of them are argued to be non-functional.[41]

Many ncRNAs are critical elements in gene regulation and expression. Noncoding RNA also contributes to epigenetics, transcription, RNA splicing, and the translational machinery. The role of RNA in genetic regulation and disease offers a new potential level of unexplored genomic complexity.[42]

In addition to the ncRNA molecules that are encoded by discrete genes, the initial transcripts of protein coding genes usually contain extensive noncoding sequences, in the form of introns, 5'-untranslated regions (5'-UTR), and 3'-untranslated regions (3'-UTR). Within most protein-coding genes of the human genome, the length of intron sequences is 10- to 100-times the length of exon sequences (Table 2).

The human genome has many different regulatory sequences which are crucial to controlling gene expression. Conservative estimates indicate that these sequences make up 8% of the genome,[43] however extrapolations from the ENCODE project give that 20[44]-40%[45] of the genome is gene regulatory sequence. Some types of non-coding DNA are genetic "switches" that do not encode proteins, but do regulate when and where genes are expressed (called enhancers).[46]

Regulatory sequences have been known since the late 1960s.[47] The first identification of regulatory sequences in the human genome relied on recombinant DNA technology.[48] Later with the advent of genomic sequencing, the identification of these sequences could be inferred by evolutionary conservation. The evolutionary branch between the primates and mouse, for example, occurred 7090 million years ago.[49] So computer comparisons of gene sequences that identify conserved non-coding sequences will be an indication of their importance in duties such as gene regulation.[50]

Other genomes have been sequenced with the same intention of aiding conservation-guided methods, for exampled the pufferfish genome.[51] However, regulatory sequences disappear and re-evolve during evolution at a high rate.[52][53][54]

As of 2012, the efforts have shifted toward finding interactions between DNA and regulatory proteins by the technique ChIP-Seq, or gaps where the DNA is not packaged by histones (DNase hypersensitive sites), both of which tell where there are active regulatory sequences in the investigated cell type.[43]

Repetitive DNA sequences comprise approximately 50% of the human genome.[55]

About 8% of the human genome consists of tandem DNA arrays or tandem repeats, low complexity repeat sequences that have multiple adjacent copies (e.g. "CAGCAGCAG...").[56]The tandem sequences may be of variable lengths, from two nucleotides to tens of nucleotides. These sequences are highly variable, even among closely related individuals, and so are used for genealogical DNA testing and forensic DNA analysis.[57]

Repeated sequences of fewer than ten nucleotides (e.g. the dinucleotide repeat (AC)n) are termed microsatellite sequences. Among the microsatellite sequences, trinucleotide repeats are of particular importance, as sometimes occur within coding regions of genes for proteins and may lead to genetic disorders. For example, Huntington's disease results from an expansion of the trinucleotide repeat (CAG)n within the Huntingtin gene on human chromosome 4. Telomeres (the ends of linear chromosomes) end with a microsatellite hexanucleotide repeat of the sequence (TTAGGG)n.

Tandem repeats of longer sequences (arrays of repeated sequences 1060 nucleotides long) are termed minisatellites.

Transposable genetic elements, DNA sequences that can replicate and insert copies of themselves at other locations within a host genome, are an abundant component in the human genome. The most abundant transposon lineage, Alu, has about 50,000 active copies,[58] and can be inserted into intragenic and intergenic regions.[59] One other lineage, LINE-1, has about 100 active copies per genome (the number varies between people).[60] Together with non-functional relics of old transposons, they account for over half of total human DNA.[61] Sometimes called "jumping genes", transposons have played a major role in sculpting the human genome. Some of these sequences represent endogenous retroviruses, DNA copies of viral sequences that have become permanently integrated into the genome and are now passed on to succeeding generations.

Mobile elements within the human genome can be classified into LTR retrotransposons (8.3% of total genome), SINEs (13.1% of total genome) including Alu elements, LINEs (20.4% of total genome), SVAs and Class II DNA transposons (2.9% of total genome).

With the exception of identical twins, all humans show significant variation in genomic DNA sequences. The human reference genome (HRG) is used as a standard sequence reference.

There are several important points concerning the human reference genome:

The Genome Reference Consortium is responsible for updating the HRG. Version 38 was released in December 2013.[62]

Most studies of human genetic variation have focused on single-nucleotide polymorphisms (SNPs), which are substitutions in individual bases along a chromosome. Most analyses estimate that SNPs occur 1 in 1000 base pairs, on average, in the euchromatic human genome, although they do not occur at a uniform density. Thus follows the popular statement that "we are all, regardless of race, genetically 99.9% the same",[63] although this would be somewhat qualified by most geneticists. For example, a much larger fraction of the genome is now thought to be involved in copy number variation.[64] A large-scale collaborative effort to catalog SNP variations in the human genome is being undertaken by the International HapMap Project.

The genomic loci and length of certain types of small repetitive sequences are highly variable from person to person, which is the basis of DNA fingerprinting and DNA paternity testing technologies. The heterochromatic portions of the human genome, which total several hundred million base pairs, are also thought to be quite variable within the human population (they are so repetitive and so long that they cannot be accurately sequenced with current technology). These regions contain few genes, and it is unclear whether any significant phenotypic effect results from typical variation in repeats or heterochromatin.

Most gross genomic mutations in gamete germ cells probably result in inviable embryos; however, a number of human diseases are related to large-scale genomic abnormalities. Down syndrome, Turner Syndrome, and a number of other diseases result from nondisjunction of entire chromosomes. Cancer cells frequently have aneuploidy of chromosomes and chromosome arms, although a cause and effect relationship between aneuploidy and cancer has not been established.

Whereas a genome sequence lists the order of every DNA base in a genome, a genome map identifies the landmarks. A genome map is less detailed than a genome sequence and aids in navigating around the genome.[65][66]

An example of a variation map is the HapMap being developed by the International HapMap Project. The HapMap is a haplotype map of the human genome, "which will describe the common patterns of human DNA sequence variation."[67] It catalogs the patterns of small-scale variations in the genome that involve single DNA letters, or bases.

Researchers published the first sequence-based map of large-scale structural variation across the human genome in the journal Nature in May 2008.[68][69] Large-scale structural variations are differences in the genome among people that range from a few thousand to a few million DNA bases; some are gains or losses of stretches of genome sequence and others appear as re-arrangements of stretches of sequence. These variations include differences in the number of copies individuals have of a particular gene, deletions, translocations and inversions.

Single-nucleotide polymorphisms (SNPs) do not occur homogeneously across the human genome. In fact, there is enormous diversity in SNP frequency between genes, reflecting different selective pressures on each gene as well as different mutation and recombination rates across the genome. However, studies on SNPs are biased towards coding regions, the data generated from them are unlikely to reflect the overall distribution of SNPs throughout the genome. Therefore, the SNP Consortium protocol was designed to identify SNPs with no bias towards coding regions and the Consortium's 100,000 SNPs generally reflect sequence diversity across the human chromosomes.The SNP Consortium aims to expand the number of SNPs identified across the genome to 300 000 by the end of the first quarter of 2001.[70]

Changes in non-coding sequence and synonymous changes in coding sequence are generally more common than non-synonymous changes, reflecting greater selective pressure reducing diversity at positions dictating amino acid identity. Transitional changes are more common than transversions, with CpG dinucleotides showing the highest mutation rate, presumably due to deamination.

A personal genome sequence is a (nearly) complete sequence of the chemical base pairs that make up the DNA of a single person. Because medical treatments have different effects on different people due to genetic variations such as single-nucleotide polymorphisms (SNPs), the analysis of personal genomes may lead to personalized medical treatment based on individual genotypes.[71]

The first personal genome sequence to be determined was that of Craig Venter in 2007. Personal genomes had not been sequenced in the public Human Genome Project to protect the identity of volunteers who provided DNA samples. That sequence was derived from the DNA of several volunteers from a diverse population.[72] However, early in the Venter-led Celera Genomics genome sequencing effort the decision was made to switch from sequencing a composite sample to using DNA from a single individual, later revealed to have been Venter himself. Thus the Celera human genome sequence released in 2000 was largely that of one man. Subsequent replacement of the early composite-derived data and determination of the diploid sequence, representing both sets of chromosomes, rather than a haploid sequence originally reported, allowed the release of the first personal genome.[73] In April 2008, that of James Watson was also completed. Since then hundreds of personal genome sequences have been released,[74] including those of Desmond Tutu,[75][76] and of a Paleo-Eskimo.[77] In November 2013, a Spanish family made their personal genomics data publicly available under a Creative Commons public domain license. The work was led by Manuel Corpas and the data obtained by direct-to-consumer genetic testing with 23andMe and the Beijing Genomics Institute). This is believed to be the first such public genomics dataset for a whole family.[78]

The sequencing of individual genomes further unveiled levels of genetic complexity that had not been appreciated before. Personal genomics helped reveal the significant level of diversity in the human genome attributed not only to SNPs but structural variations as well. However, the application of such knowledge to the treatment of disease and in the medical field is only in its very beginnings.[79] Exome sequencing has become increasingly popular as a tool to aid in diagnosis of genetic disease because the exome contributes only 1% of the genomic sequence but accounts for roughly 85% of mutations that contribute significantly to disease.[80]

In humans, gene knockouts naturally occur as heterozygous or homozygous loss-of-function gene knockouts. These knockouts are often difficult to distinguish, especially within heterogeneous genetic backgrounds. They are also difficult to find as they occur in low frequencies.

Populations with high rates of consanguinity, such as countries with high rates of first-cousin marriages, display the highest frequencies of homozygous gene knockouts. Such populations include Pakistan, Iceland, and Amish populations. These populations with a high level of parental-relatedness have been subjects of human knock out research which has helped to determine the function of specific genes in humans. By distinguishing specific knockouts, researchers are able to use phenotypic analyses of these individuals to help characterize the gene that has been knocked out.

Knockouts in specific genes can cause genetic diseases, potentially have beneficial effects, or even result in no phenotypic effect at all. However, determining a knockouts phenotypic effect and in humans can be challenging. Challenges to characterizing and clinically interpreting knockouts include difficulty calling of DNA variants, determining disruption of protein function (annotation), and considering the amount of influence mosaicism has on the phenotype. [82]

One major study that investigated human knockouts is the Pakistan Risk of Myocardial Infarction study. It was found that individuals possessing a heterozygous loss-of-function gene knockout for the APOC3 gene had lower triglycerides in the blood after consuming a high fat meal as compared to individuals without the mutation. However, individuals possessing homozygous loss-of-function gene knockouts of the APOC3 gene displayed the lowest level of triglycerides in the blood after the fat load test, as they produce no functional APOC3 protein. [83]

Most aspects of human biology involve both genetic (inherited) and non-genetic (environmental) factors. Some inherited variation influences aspects of our biology that are not medical in nature (height, eye color, ability to taste or smell certain compounds, etc.). Moreover, some genetic disorders only cause disease in combination with the appropriate environmental factors (such as diet). With these caveats, genetic disorders may be described as clinically defined diseases caused by genomic DNA sequence variation. In the most straightforward cases, the disorder can be associated with variation in a single gene. For example, cystic fibrosis is caused by mutations in the CFTR gene, and is the most common recessive disorder in caucasian populations with over 1,300 different mutations known.[84]

Disease-causing mutations in specific genes are usually severe in terms of gene function, and are fortunately rare, thus genetic disorders are similarly individually rare. However, since there are many genes that can vary to cause genetic disorders, in aggregate they constitute a significant component of known medical conditions, especially in pediatric medicine. Molecularly characterized genetic disorders are those for which the underlying causal gene has been identified, currently there are approximately 2,200 such disorders annotated in the OMIM database.[84]

Studies of genetic disorders are often performed by means of family-based studies. In some instances population based approaches are employed, particularly in the case of so-called founder populations such as those in Finland, French-Canada, Utah, Sardinia, etc. Diagnosis and treatment of genetic disorders are usually performed by a geneticist-physician trained in clinical/medical genetics. The results of the Human Genome Project are likely to provide increased availability of genetic testing for gene-related disorders, and eventually improved treatment. Parents can be screened for hereditary conditions and counselled on the consequences, the probability it will be inherited, and how to avoid or ameliorate it in their offspring.

As noted above, there are many different kinds of DNA sequence variation, ranging from complete extra or missing chromosomes down to single nucleotide changes. It is generally presumed that much naturally occurring genetic variation in human populations is phenotypically neutral, i.e. has little or no detectable effect on the physiology of the individual (although there may be fractional differences in fitness defined over evolutionary time frames). Genetic disorders can be caused by any or all known types of sequence variation. To molecularly characterize a new genetic disorder, it is necessary to establish a causal link between a particular genomic sequence variant and the clinical disease under investigation. Such studies constitute the realm of human molecular genetics.

With the advent of the Human Genome and International HapMap Project, it has become feasible to explore subtle genetic influences on many common disease conditions such as diabetes, asthma, migraine, schizophrenia, etc. Although some causal links have been made between genomic sequence variants in particular genes and some of these diseases, often with much publicity in the general media, these are usually not considered to be genetic disorders per se as their causes are complex, involving many different genetic and environmental factors. Thus there may be disagreement in particular cases whether a specific medical condition should be termed a genetic disorder. The categorized table below provides the prevalence as well as the genes or chromosomes associated with some human genetic disorders.

Human development over the last 10 million years

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Comparative genomics studies of mammalian genomes suggest that approximately 5% of the human genome has been conserved by evolution since the divergence of extant lineages approximately 200 million years ago, containing the vast majority of genes.[86][87] The published chimpanzee genome differs from that of the human genome by 1.23% in direct sequence comparisons.[88] Around 20% of this figure is accounted for by variation within each species, leaving only ~1.06% consistent sequence divergence between humans and chimps at shared genes.[89] This nucleotide by nucleotide difference is dwarfed, however, by the portion of each genome that is not shared, including around 6% of functional genes that are unique to either humans or chimps.[90]

In other words, the considerable observable differences between humans and chimps may be due as much or more to genome level variation in the number, function and expression of genes rather than DNA sequence changes in shared genes. Indeed, even within humans, there has been found to be a previously unappreciated amount of copy number variation (CNV) which can make up as much as 5 15% of the human genome. In other words, between humans, there could be +/- 500,000,000 base pairs of DNA, some being active genes, others inactivated, or active at different levels. The full significance of this finding remains to be seen. On average, a typical human protein-coding gene differs from its chimpanzee ortholog by only two amino acid substitutions; nearly one third of human genes have exactly the same protein translation as their chimpanzee orthologs. A major difference between the two genomes is human chromosome 2, which is equivalent to a fusion product of chimpanzee chromosomes 12 and 13.[91] (later renamed to chromosomes 2A and 2B, respectively).

Humans have undergone an extraordinary loss of olfactory receptor genes during our recent evolution, which explains our relatively crude sense of smell compared to most other mammals. Evolutionary evidence suggests that the emergence of color vision in humans and several other primate species has diminished the need for the sense of smell.[92]

In September 2016, scientists reported that, based on human DNA genetic studies, all non-Africans in the world today can be traced to a single population that exited Africa between 50,000 and 80,000 years ago.[93]

The human mitochondrial DNA is of tremendous interest to geneticists, since it undoubtedly plays a role in mitochondrial disease. It also sheds light on human evolution; for example, analysis of variation in the human mitochondrial genome has led to the postulation of a recent common ancestor for all humans on the maternal line of descent (see Mitochondrial Eve).

Due to the lack of a system for checking for copying errors, mitochondrial DNA (mtDNA) has a more rapid rate of variation than nuclear DNA. This 20-fold higher mutation rate allows mtDNA to be used for more accurate tracing of maternal ancestry. Studies of mtDNA in populations have allowed ancient migration paths to be traced, such as the migration of Native Americans from Siberia or Polynesians from southeastern Asia. It has also been used to show that there is no trace of Neanderthal DNA in the European gene mixture inherited through purely maternal lineage.[94] Due to the restrictive all or none manner of mtDNA inheritance, this result (no trace of Neanderthal mtDNA) would be likely unless there were a large percentage of Neanderthal ancestry, or there was strong positive selection for that mtDNA (for example, going back 5 generations, only 1 of your 32 ancestors contributed to your mtDNA, so if one of these 32 was pure Neanderthal you would expect that ~3% of your autosomal DNA would be of Neanderthal origin, yet you would have a ~97% chance to have no trace of Neanderthal mtDNA).

Epigenetics describes a variety of features of the human genome that transcend its primary DNA sequence, such as chromatin packaging, histone modifications and DNA methylation, and which are important in regulating gene expression, genome replication and other cellular processes. Epigenetic markers strengthen and weaken transcription of certain genes but do not affect the actual sequence of DNA nucleotides. DNA methylation is a major form of epigenetic control over gene expression and one of the most highly studied topics in epigenetics. During development, the human DNA methylation profile experiences dramatic changes. In early germ line cells, the genome has very low methylation levels. These low levels generally describe active genes. As development progresses, parental imprinting tags lead to increased methylation activity.[95][96]

Epigenetic patterns can be identified between tissues within an individual as well as between individuals themselves. Identical genes that have differences only in their epigenetic state are called epialleles. Epialleles can be placed into three categories: those directly determined by an individuals genotype, those influenced by genotype, and those entirely independent of genotype. The epigenome is also influenced significantly by environmental factors. Diet, toxins, and hormones impact the epigenetic state. Studies in dietary manipulation have demonstrated that methyl-deficient diets are associated with hypomethylation of the epigenome. Such studies establish epigenetics as an important interface between the environment and the genome.[97]

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Medicine’s Movable Feast: What Jumping Genes Can Teach Us about Treating Disease – Scientific American

When the groundbreaking geneticist Barbara McClintock was born in Hartford, Connecticut, in 1902, her parents initially named her Eleanor. But they soon felt that the name was too delicate for their daughter and began to call her Barbara instead, which they thought better suited her strong personality. Her parents accurately predicted her determination.

To say that McClintock was a pioneer is an understatement. In 1944, she became the third woman to be elected to the US National Academy of Sciences and the first woman to lead the Genetics Society of America. Shortly afterwards, she discovered that certain genetic regions in maize could jump around the chromosome and, consequently, influence the color of mottled ears of maize with kernels ranging from golden yellow to dark purple. She dubbed these jumping bits of genetic code controlling units, which later became known as transposons or transposable elements. Unfortunately, by the mid-1950s, McClintock began to sense that the scientific mainstream was not ready to accept her idea, and she stopped publishing her research into this area to avoid alienation from the scientific establishment. But scientific ideas can re-emerge and integrate into the mainstream, and 30 years later, McClintock received a Nobel Prize in Physiology or Medicine for her revolutionary insights into these moving chunks of genetic code.

In recent years, medical research has uncovered new evidence showing that moving parts of the genome in humans can contribute to life-threatening diseases ranging from cancer to diabetes. For example, a handful of hemophilia cases have been traced to transposable elements that, at some point before the patient was born, or even, perhaps, conceived, inserted themselves into and disrupted genes that facilitate blood clotting. At the same time, experiments also offer mounting data to suggest that some transposable elementsand the genes that these roving bits of DNA help to resurrecthave beneficial roles.

The study of transposable elements is a hotbed of research, according to Josh Meyer, a postdoctoral fellow who studies these bits of DNA at Oregon Health & Science University in Portland. Way back in the mists of time for the field, the general category of these things was junk DNA, he explains. Now, he says, researchers have begun to understand that transposable elements aren't always neutral genetic components: There's nothing that transposon biologists love more than to have the discussion of whether these things are, on balance, bad for us or good for us.

Since McClintock's breakthrough, researchers have identified different classes of transposable elements in the genomes of every organism in which they have sought them, ranging from fruit flies to polar bears. About 3% of the human genome consists of transposons of DNA origin, which belong to the same class as the ones that McClintock studied in maize. The other type of transposable elements, known as retrotransposons, are more abundant in our genome. These include the transposable elements that originate from viruses and make up as much as 10% of the human genome1. These elements typically trace back many millennia. They arise when viruses integrate into the genome of sperm or egg cells, and thus get passed down from one generation to the next.

The ancient viruses that became 'fossilized' in the genome remain dormant for the most part, and degenerate over time. However, there are hints that they might have the ability to re-emerge and contribute to illnesses that some scientists say could include autoimmune disease and schizophrenia2. In one example, a 2015 study found elevated levels of one embedded virus, known as human endogenous retrovirus K, in the brains of individuals with amyotrophic lateral sclerosis, also known as Lou Gehrig's disease3. However, researchers stress that the data do not yet establish a causal link.

Yet another category of retrotransposons, called long interspersed nuclear elements-1, or LINE-1 for short, make up a whopping 17% or more of the human genome4. When LINE-1 retrotransposons move within the genome of reproductive cells and insert themselves in new places, they can disrupt important genes. Researchers have so far identified more than 120 LINE-1 gene insertions, resulting in diseases ranging from muscular dystrophy to cystic fibrosis5.

Much of the focus on transposable elementsand particularly, on endogenous retroviruses and LINE-1shas centered on the possible negative repercussions of these DNA insertions. But work tracing back to the 1980s has suggested that endogenous retroviruses may also support reproductive function in some way6. In 2000, scientists found that remnants of an ancient virus in the human genome encode a protein called syncytin, which cell experiments indicate is important for placental development7. And although it is not shown definitely, there are also hints that an endogenous retrovirus that became embedded in the DNA of a primate ancestor might help boost the production of the digestive enzyme amylase, which helps to break down starch, in our saliva8, 9.

To peer deeper into the effects of transposable elements in humans, geneticist Nels Elde and his colleagues at the University of Utah in Salt Lake City used CRISPRCas9 gene editing to target an endogenous retrovirus called MER41, thought to come from a virus that integrated into the genome perhaps as far back as 60 million years ago. The scientists removed the MER41 element from human cells cultured in a dish. In humans, MER41 appears near genes involved in responding to interferon, a signaling molecule that helps our immune response against pathogens. Notably, as compared with normal cells, cells engineered to lack MER41 were more susceptible to infection by the vaccinia virus, used to inoculate people against smallpox. The findings, reported last year, suggest that MER41 has a crucial role in triggering cells to launch an immune response against pathogens through the interferon pathway10.

Meyer stresses that these insights elevate the already eminent discoveries by McClintock. I would hope she would be extremely gratified and vindicated, he says. She recognized a type of sort of factor of genomic dynamism that no one else had seen before. And I am firmly convinced that it's going to only become more and more and more central to our understanding of how genomics works.

In 2005, with a freshly minted doctorate in molecular genetics, Nels Elde landed a job as a research fellow in Seattle and was tasked with studying the evolution of the immune system of gibbons, a type of ape. Each morning as he biked to the lab downtown, he would pass the city's zoo and hear its gibbons calling to each other. Occasionally, he would visit the zoo and look at them, but he had no idea at the time that the squirrel monkeys that he also saw there would feature so largely in his future research. At work, Elde's primate investigations focused on the gibbon DNA that he was responsible for extracting and analyzing using sequencing machinery.

Then, six years ago, Elde received his first lab of his own to run, at the University of Utah. He did not expect his team's first discovery there to come so swiftly, or that it would involve transposable elements. Elde had arrived at the university with the intention of learning how cells recognize and defeat invading viruses, such as HIV. But he hadn't yet obtained the equipment that he needed to run experiments, despite already having two employees who were eager to do work, including his lab manager, Diane Downhour. Given the lack of lab tools, the two lab staff members spent their time on their computers, poking around databases for interesting patterns in DNA. After just two weeks of this, Downhour came into Elde's office and told him that they had found a couple of extra copies of a particular gene in New World monkeysspecifically, in squirrel monkeys.

Elde initially brushed off Downhour's insight. I said, 'Why don't you go back to the lab and not worry about it?' he recalls. But a couple of days later, she returned to his office with the idea. I was just in the sort of panicked mode of opening a lab, ordering freezers, trying to set up equipment and hiring people, Elde explains. Diane definitely had to come back and say, 'Come on, wake up here. Pay attention.'

The gene that they detected multiple copies of in squirrel monkeys is called charged multivesicular body protein 3, or CHMP3. Each squirrel monkey seems to have three variants of the gene. By comparison, humans have only the one, original variant of CHMP3. The gene is thought to exist in multiple versions in the squirrel monkey genome thanks to transposable elements. At some point around 35 million years ago, in an ancestor of the squirrel monkey, LINE-1 retrotransposons are thought to have hopped out of the genome inside the cell nucleus and entered the cytoplasm of the cell. After associating with CHMP3 RNA in the cytoplasm, the transposable elements brought the code for CHMP3 back into the nucleus and reintegrated it into the genome. When the extra versions of CHMP3 were copied into the genome, they were not copied perfectly by the cellular machinery, and thus changes were introduced into the sequences. Upon a first look at the data, these imperfections seemed to render them nonfunctional 'pseudogenes'. But as Elde's team delved into the mystery of why squirrel monkeys had so many copies of CHMP3, an intriguing story emerged.

The discovery of pseudogenes is not wholly uncommon. There are more than 500,000 LINE-1 retrotransposons in the human genome11, and these elements have scavenged and reinserted the codes for other proteins inside the cell as well. Unlike with the endogenous retroviral elements in the genome, which can be clearly traced back to ancient viruses, the origin of LINE-1 retrotransposons is murky. However, both types of transposable elements contain the code for an enzyme called reverse transcriptase, which theoretically enables them to reinsert genetic code into the genome in the cell nucleus. This enzyme is precisely what allowed LINE-1 activity to copy CHMP3 back into the genome of the squirrel-monkey ancestor.

Elde couldn't stop thinking about the mystery of why squirrel monkeys had multiple variants of CHMP3. He knew that in humans, the functional variant of the CHMP3 gene makes a protein that HIV uses to bud off of the cell membrane and travel to and infect other cells of the body. A decade ago, a team of scientists used an engineered vector to prompt human cells in a dish to produce a truncated, inoperative version of the CHMP3 protein and showed that the truncated protein prevented HIV from budding off the cells12. There was hope that this insight would yield a new way of treating HIV infection and so prevent AIDS. Unfortunately, the protein also has a role in allowing other important molecular signals to facilitate the formation of packages that bud off of the cell membrane. As such, the broken CHMP3 protein that the scientists had coaxed the cells to produce soon caused the cells to die.

Given that viruses such as HIV use a budding pathway that relies on normal CHMP3 protein, Elde wondered whether the extra, altered CHMP3 copies that squirrel monkeys carry confers some protection against viruses at the cellular level. He coordinated with researchers around the globe, who sent squirrel-monkey blood from primate centers as far-reaching as Bastrop, Texas, to French Guiana. When Elde's team analyzed the blood, they found that the squirrel monkeys actually produced one of the altered versions of CHMP3 they carry. This finding indicated that in this species, one of the CHMP3 copies was a functional pseudogene, making it more appropriately known as a 'retrogene'. In a further experiment, Elde's group used a genetic tool to coax human kidney cells in a dish to produce this retrogene version of CHMP3. They then allowed HIV to enter the cells, and found that the virus was dramatically less able to exit the cells, thereby stopping it in its tracks. By contrast, in cells that were not engineered to produce the retrogene, HIV was able to leave the cells, which means it could theoretically infect many more.

In a separate portion of the experiment Elde's group demonstrated that whereas human cells tweaked to make the toxic, truncated version of CHMP3 (the kind originally engineered a decade ago) die, cells coaxed to make the squirrel-monkey retrogene version of CHMP3 can survive. And by conducting a further comparison with the truncated version, Elde found that the retrogenewhat he calls retroCHMP3in these small primates had somehow acquired mutations that resulted in a CHMP3 protein containing twenty amino acid changes. It's some combination of these twenty points of difference in the protein made by the retrogene that he thinks makes it nontoxic to the cell itself but still able to sabotage HIV's efforts to bud off of cells. Elde presented the findings, which he plans to publish, in February at the Keystone Symposia on Viral Immunity in New Mexico.

The idea that retroCHMP3 from squirrel monkeys can perhaps inhibit viruses such as HIV from spreading is interesting, says Michael Emerman, a virologist at the Fred Hutchinson Cancer Research Center. Having an inhibitor of a process always helps you understand what's important for it, Emerman explains. He adds that it's also noteworthy that retroCHMP3 wasn't toxic to the cells, because this finding could inspire a new antiviral medicine: It could help you to design small molecules or drugs that could specifically inhibit that part of the pathway that's used by viruses rather than the part of the pathway used by host cells.

Akiko Iwasaki, an immunologist at the Yale School of Medicine in New Haven, Connecticut, is also optimistic that the finding will yield progress. What is so cool about this mechanism of HIV restriction is that HIV does not bind directly to retroCHMP3, making it more difficult for the virus to overcome the block imposed by retroCHMP3, Iwasaki says. Even though humans do not have a retroCHMP3 gene, by understanding how retroCHMP3 works in other primates, one can design strategies to mimic the activity of retroCHMP3 in human cells to block HIV replication.

Elde hopes that, if the findings hold, cells from patients with HIV infection might one day be extracted and edited to contain copies of retroCHMP3, and then reintroduced into these patients. Scientists have already used a similar cell-editing approach in clinical trials to equip cells with a variant of another gene, called CCR5, that prevents HIV from entering cells. In these experiments, patients have received infusions of their own cellsmodified to carry the rare CCR5 variant. But although preliminary results indicate that the approach is safe, there is not enough evidence yet about its efficacy. (Another point of concern is that people with the rare, modified version of the CCR5 gene might be as much as 13 times more susceptible to getting sick from West Nile virus than those with the normal version of this gene13.) By editing both retroCHMP3 and the version of CCR5 that prevents HIV entry into cells, Elde suggests, this combination of gene edits could provide a more powerful way of modifying patient cells to treat HIV infection.

You could imagine doing a sort of cocktail genetic therapy in order to block HIV in a way that the virus can't adapt around it, Elde says. His team also plans to test whether retroCHMP3 has antiviral activity against other viruses, including Ebola.

The investigations into how pseudogenes and retrogenes might influence health are ongoing. And there is mounting evidence that the LINE-1 elements that create them are more active than previously thought. In 2015, for example, scientists at the Salk Institute in California reported a previously unidentified region of LINE-1 retrotransposons that are, in a way, supercharged. The region that the researchers identified encodes a protein that ultimately helps the retrotransposons to pick up bits of DNA in the cell cytoplasm to reinsert them into the genome14. The same region also enhances the ability of LINE-1 elements to jump around the genome and thus create variation, adding weight to the idea that these elements might have an underappreciated role in human evolution and in creating diversity among different populations of people.

The active function of transposable elements is more important than many people realize, according to John Coffin, a retrovirus researcher who divides his time between his work at the US National Cancer Institute in Frederick, Maryland, and Tufts University in Boston. They canand havecontributed in important ways to our biology, he says. I think their role in shaping our evolutionary history is underappreciated by many evolutionary biologists.

Squirrel monkeys are not the only animals that might reap protection against viral invaders thanks in part to changes in the genome caused by transposable elements. In 2014, Japanese scientists reported on a chunk of Borna virus embedded in the genome of ground squirrels (Ictidomys tridecemlineatus). The team's results from cellular experiments suggest that this transposed chunk encodes a protein that might interfere with the pathogenicity of external Borna viruses that try to invade these animals15. Humans also have embedded chunks of Borna virus in their genomes. But we don't have the same antiviral version that the ground squirrels haveand we might therefore be less protected against invading Borna viruses.

Other studies of endogenous viruses might have clearer implications for human health, and so scientists are looking at the activity of these transposable elements in a wide range of other animals, including the house cat. This past October, another group of Japanese researchers found that viruses embedded in the genomes of domesticated cats have some capacity to replicate. This replication was dependent on how well the feline cells were able to squelch the endogenous viruses in the genome through a silencing process called methylation16. But perhaps the most striking example of a replicating endogenous retrovirus is in koalas. In the 1990s, veterinarians at Dreamworld, a theme park in Queensland, Australia, noticed that the koalas were getting lymphoma and other cancers at an alarming rate. The culprit turned out to be a retrovirus that was jumping around in the animals' genomes and wreaking havoc. Notably, koalas in the south of the country showed no signs of the retrovirus, which suggests that the virus had only recently begun to integrate into these animals' DNA17.

The risks of transposable elements to human health are a concern when it comes to the tissue transplants we receive from other species, such as from pigs, which have porcine endogenous retroviruses. These embedded viruseswhich have the unfortunate abbreviation PERVscan replicate and infect human cells.

Transplants from pigs, for example, commonly include tissues such as tendons, which are used in ACL-injury repair. But these tissues are stripped of the pig cellsand thus of PERVsso that just the tissue scaffold remains. However, academic institutions and companies are actively designing new ways to use pig tissues in humans. Earlier this year, Smithfield Foods, a maker of bacon, hotdogs and sausages, announced it had launched a new bioscience unit to help supply pig parts to medical companies in the future. Meanwhile, George Church, a Harvard Medical School geneticist and entrepreneur, has formed a company called eGenesis Bio to develop humanized pigs for tissue transplantation. In March, the company announced that it had raised $38 million in venture funding. Church published a paper two years ago showing that his team had edited out key bits of 62 PERVs from pig embryos, disrupting the PERVs' replication process and reducing their ability to infect human cells by 1,000-fold18.

Whereas Church and other scientists have tried disrupting endogenous retroviruses in animal genomes, researchers have also experimented with resurrecting them: a decade ago, a group of geneticists in France stirred up some controversy when the researchers recreated a human endogenous retrovirus by correcting the mutations that had rendered it silent in the genome for millennia. The scientists called it the 'Phoenix' virus, but it showed only a weak ability to infect human cells in the lab19. There was, perhaps unsurprisingly, pushback against the idea of resurrecting viruses embedded in our genomeno matter how wimpy the resulting viral creation.

But emerging data suggest that the retroviruses buried in the human genome might not be quite as dormant as we thought. The ability for these endogenous retroviruses to awaken from the genome is more widespread than has been previously appreciated, says virologist Rene Douville at the University of Winnipeg in Canada. She views this phenomenon as being the rule, rather than the exception within the cell: These retroelements are produced from the genome as part of the cell's normal function to varying degrees.

Interestingly, the cellular machinery involved in keeping cancer at bay might also have a connection to transposable elements. One in three binding sites in the human genome for the important tumor-suppressor protein p53 are found within endogenous retroviruses in our DNA20. And last year, a team led by John Abrams at University of Texas Southwestern Medical Center in Dallas offered preliminary evidence that p53 might do its work by perhaps keeping embedded retroelements in check21.

When I first started openly publicly talking about this story, some of my colleagues here who are in the cancer community said, 'Hey, that's cute, but it can't be true. And the reason it can't be true is that we would know this already,' Abrams recalls. The reason it wasn't seen before, he explains, is that many genetic analyses throw out repeated sequenceswhich often consist of retroelements. So his team had to go dumpster diving in the genetic databases for these sequences of interest to demonstrate the link to p53. Abrams suspects that when p53 fails to keep retrotransposons at bay, tumors might somehow arise: The next question becomes, 'How do you get to cancer?' Abrams says that this is an example of what he calls transposopathies.

Not all scientists are convinced of a causal link between p53 and retroelements in cancer. My question is, if p53 is so vital in suppressing retrotransposon activity in cancer, why do we not find evidence of dysregulated retrotransposons inserting copies of themselves into the tumor genome more often? asks David Haussler, a genomics expert at the University of California, Santa Cruz. Most tumors have p53 mutations, yet only a very small percentage of tumors show evidence of significantly dysregulated rates of new retrotransposon copy insertion.

Still, there are others interested in exploring whether ancient viruses might reawaken in cancer or have some other role in this disease. Five years ago, scientists at the University of Texas MD Anderson Cancer Center reported that a type of viral protein produced by the human endogenous retrovirus type K (HERV-K) is often found on the surface of breast cancer cells. In a mouse experiment, they showed that cancers treated with antibodies against this protein grew to only one-third of the size of tumors that did not receive this therapy22.

But some cancer scientists are thinking about co-opting endogenous retroviruses to use against cancer. Paul Bieniasz of the Rockefeller University in New York City gained insight into this approach by studying human endogenous retrovirus type T (HERV-T)an ancient virus that spread for 25 million years among our primate ancestors until its extinction roughly 11 million years ago and at some point became fossilized in our DNA lineage. In April, his group found that a particular HERV-T encodes a protein that blocks a protein called monocarboxylate transporter 1, which is abundant on the surface of certain types of cancer cells23. It's thought that monocarboxylate transporter 1 has a role in enabling tumors to grow. Blocking it could help to stymie the expansion of malignancies, Bieniasz speculates. He and his colleagues are now trying to build an 'oncolytic virus' that uses elements of HERV-T to treat cancer.

The idea that new viruses might still be trying to creep into our genomes is a scary one, even if they don't appear very effective at achieving this. One of the most recent to integrate into our genome in a way that it is passed down from generation to generation is human endogenous retrovirus type K113 (HERV-K133), which sits on chromosome 19. It's found in only about one-third of people worldwide, most of whom are of African, Asian or Polynesian background. And researchers say that it could have integrated into the genome as recently as 200,000 years ago6.

Although experts remain skeptical that a virus will integrate into the human genome again anytime soon, other transposable elements, such as LINE-1s, continue to move around in our DNA. Meanwhile, the field that Barbara McClintock seeded more than half a century ago is growing quickly. John Abrams, who is studying retroelements, says that we're only just beginning to understand how dynamic the genome is. He notes that only recently have people begun to appreciate how the 'microbiome' of bacteria living in our guts can influence our health. We're really an ecosystem, Abrams says of the gut, and the genome is the same way. There is the host DNAbelonging to usand the retro-elements it contains, he explains, and there's this sort of productive tension that exists between the two.

This article is reproduced with permission and wasfirst publishedon July 11, 2017.

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Medicine's Movable Feast: What Jumping Genes Can Teach Us about Treating Disease - Scientific American

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Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study) – BMC Medicine – BMC Medicine

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Surprises in Cell Codes Reveal Information Goes Far Beyond DNA – Discovery Institute

Information is the stuff of life. Not limited to DNA, information is found in most biomolecules in living cells. Here are some recent developments.

Certain forms of sugars (polysaccharides called chitosans) trigger the immune system of plants. Biologists at the University of Mnster are deciphering the sugar code. They describe the variables in chitosans that constitute a signaling system.

Chitosans consist of chains of different lengths of a simple sugar called glucosamine. Some of these sugar molecules carry an acetic acid molecule, others do not. Chitosans therefore differ in three factors: the chain length and the number and distribution of acetic acid residues along the sugar chain. For about twenty years, chemists have been able to produce chitosans of different chain lengths and with different amounts of acetic acid residues, and biologists have then investigated their biological activities. [Emphasis added.]

These polysaccharides, also found in animals, are perhaps the most versatile and functioning biopolymers, the scientists say. If they can learn to decipher this complex code, they might find ways to protect plants without the use of pesticides.

DNA is becoming known as a more of a team member in a society of biomolecules. In some ways, it is more a patient than a doctor. It gets operated on by numerous machines that alter its message. One of the most important doctors that operates on RNA transcripts is the spliceosome, says a review article in The Scientist about alternative splicing. This complex molecular machine can multiply the messages in the coding regions of DNA by cutting out introns and stitching coded parts called exons together in different ways.

The process of alternative splicing, which had first been observed 26 years before the Human Genome Project was finished, allows a cell to generate different RNAs, and ultimately different proteins, from the same gene. Since its discovery, it has become clear that alternative splicing is common and that the phenomenon helps explain how limited numbers of genes can encode organisms of staggering complexity. While fewer than 40 percent of the genes in a fruit fly undergo alternative splicing, more than 90 percent of genes are alternatively spliced in humans.

Astoundingly, some genes can be alternatively spliced to generate up to 38,000 different transcript isoforms, and each of the proteins they produce has a unique function.

The discovery of splicing seemed bizarre from an evolutionary perspective, the authors say, recalling obsolete ideas about junk DNA. It seemed weird and wasteful that introns were being cut out of transcripts by the spliceosome. Then, the ENCODE project found that the vast majority of non-coding DNA was transcribed, giving these seemingly nonfunctional elements an essential role in gene expression, as evidence emerged over the next few years that there are sequences housed within introns that can help or hinder splicing activity.

This article is a good reminder that evolutionary assumptions hinder science. Once biochemists ridded themselves of the evolutionary notion of leftover junk in the genetic code, a race was on to understand the role of alternative splicing.

Understanding the story behind each protein in our bodies has turned out to be far more complex than reading our DNA. Although the basic splicing mechanism was uncovered more than 40 years ago, working out the interplay between splicing and physiology continues to fascinate us. We hope that advanced knowledge of how alternative splicing is regulated and the functional role of each protein isoform during development and disease will lay the groundwork for the success of future translational therapies.

Another discovery that is opening doors to research opportunities comes from the University of Chicago. Darwin-free, they announce a fundamental pathway likely to open up completely new directions of research and inquiry. Biologists knew about how methyl tags on RNA transcripts regulate the ways they are translated. Now, Professor Chuan He and colleagues have found that some RNAs, dubbed carRNAs, dont get translated at all. Instead, they controlled how DNA itself was stored and transcribed.

This has major implications in basic biology, He said. It directly affects gene transcriptions, and not just a few of them. It could induce global chromatin change and affects transcription of 6,000 genes in the cell line we studied.

Dr. He is excited about the breakthrough. The conceptual change in how RNA regulates DNA offers an enormous opportunity to guide medical treatments and promote health. Take a look at this design-friendly quote:

The human body is among the most complex pieces of machinery to exist. Every time you so much as scratch your nose, youre using more intricate engineering than any rocket ship or supercomputer ever designed. Its taken us centuries to deconstruct how this works, and each time someone discovers a new mechanism, a few more mysteries of human health make sense and new treatments become available.

Remember the evolutionary myth that jumping genes were parasites from our evolutionary past that learned how to evade the immune system? A discovery at the Washington University School of Medicine changes that tune, saying, Jumping genes help stabilize DNA folding patterns. These long-misunderstood genes thought by some evolutionists to be sources of novel genetic traits actually function to provide genomic stability.

Jumping genes bits of DNA that can move from one spot in the genome to another are well-known for increasing genetic diversity over the long course of evolution. Now, new research at Washington University School of Medicine in St. Louis indicates that such genes, also called transposable elements, play another, more surprising role: stabilizing the 3D folding patterns of the DNA molecule inside the cells nucleus.

It appears that by moving around, these genes can preserve the structure of DNA while not altering its function. (Note: the evolution they speak of appears to be microevolution, which is not controversial; hear Jonathan Wells discuss this on ID the Future.)

According to the researchers, this redundancy makes the genome more resilient. In providing both novelty and stability, jumping genes may help the mammalian genome strike a vital balance allowing animals the flexibility to adapt to a changing climate, for example, while preserving biological functions required for life.

Lead author Ting Wang says this gives insight into why coding regions between different animals vary in structure.

Our study changes how we interpret genetic variation in the noncoding regions of the DNA, Wang said. For example, large surveys of genomes from many people have identified a lot of variations in noncoding regions that dont seem to have any effect on gene regulation, which has been puzzling. But it makes more sense in light of our new understanding of transposable elements while the local sequence can change, but the function stays the same.

So while evolutionists had expected junk and simplicity, Wang says the opposite has occurred. We have uncovered another layer of complexity in the genome sequence that was not known before. Now, more discoveries are likely to flow from intelligent designs expectation that a closer look reveals more complexity.

In another recent podcast at ID the Future honoring the late Phillip E. Johnson, Paul Nelson likened a graph of mounting discoveries about life to a sharply rising mountain range. Darwin proposed his theory on the flatlands, unaware of the peaks his theory would have to explain. In the last fifty years, scientists have encountered mountain after mountain of complexity in life that evolutionary theory never anticipated back out there on the flatlands. We cant see the top of the mountains yet, but we know that were still not there, and we wont be for a long, long time, Nelson says. As we witness scientists continuing up the mountains, we anticipate with awe more wonders of design that will likely come to light in the next decade.

Image: Interior of a cell, courtesy of Illustra Media.

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Surprises in Cell Codes Reveal Information Goes Far Beyond DNA - Discovery Institute

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Molecular Genetics – Cell and Gene Therapy Conferences

Sessions/Tracks

Track 1:Molecular Biology

Molecular biologyis the study of molecular underpinnings of the processes ofreplication,transcription,translation, and cell function. Molecular biology concerns themolecularbasis ofbiologicalactivity between thebiomoleculesin various systems of acell,gene sequencingand this includes the interactions between theDNA,RNAand proteinsand theirbiosynthesis. Inmolecular biologythe researchers use specific techniques native to molecular biology, increasingly combine these techniques and ideas from thegeneticsandbiochemistry.

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2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, Canada; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk; 6th International Conference and Exhibition onCellandGene Therapy, Mar 27-28, 2017 Madrid, Spain; Gordon Research Conference,Viruses&Cells, 14 - 19 May 2017, Lucca, Italy;Human Genome Meeting(HGM 2017), February 5-7 2017, Barcelona, Spain; Embl Conference:Mammalian GeneticsAndGenomics:From Molecular Mechanisms To Translational Applications, Heidelberg, Germany, October 24, 2017;GeneticandPhysiological Impacts of Transposable Elements, October 10, 2017, Heidelberg, Germany.

American Society for Cell Biology;The Society for Molecular Biology & Evolution;American Society for Biochemistry and Molecular Biology;The Nigerian Society of Biochemistry and Molecular Biology;Molecular Biology Association Search Form - CGAP.

Track 2:Gene Therapy and Genetic Engineering

Thegenetic engineeringis also called asgenetic modification. It is the direct manipulation of an organism'sofgenomeby usingbiotechnology. It is a set of technologies used to change the genetic makeup of the cell and including the transfer of genes across species boundaries to produce improved novelorganisms. Genesmay be removed, or "knocked out", using anuclease.Gene is targetinga different technique that useshomologousrecombinationto change anendogenous gene, and this can be used to delete a gene, removeexons, add a gene, or to introducegenetic mutations. There is an dna replacement therapy, Genetic engineering does not normally include traditional animal and plant breeding, gene sequencing, in vitro fertilization, induction of polyploidy,mutagenesisand cell fusion techniques that do not use recombinant nucleic acids or a genetically modified organism in the process,diseases treated with gene therapywas initially meant to introduce genes straight into human cells, focusing on diseases caused by single-gene defects, such as cystic fibrosis, hemophilia, muscular dystrophy and sickle cell anemia

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8thWorld Congress onMolecular Pathology, June 26-27, 2017 San Diego, USA; 11thInternational Conference onSurgical Pathology& Practice, March 27-28, 2017, MADRID, SPAIN; 13th EuropeanPathologyCongress, Aug 02-03, 2017, MILAN, ITALY; 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017 march 29, 2017 - March 31, 2017, bochum , Germany.

Association for Clinical Genetic Science;Genetics Society of America | GSA;Association of Genetic Technologists;Molecular Genetics - Human Genetics Society of Australasia;Genetic Engineering - Ecological Farming Association.

Track 3:Cell & Gene Therapy

Cell therapy is also calledcellular therapyorCyto therapy, in which cellular material is injected into patient this generally means intact, living cells. The first category iscell therapyin mainstream medicine. This is the subject of intense research and the basis of potential therapeutic benefit. Such research can be controversial when it involves human embryonic material. The second category is in alternative medicine, and perpetuates the practice of injecting animal materials in an attempt to cure disease.Gene therapyis the therapeutic delivery of nucleic acid polymers into a patient's cells as a drug to treat disease. Gene therapy is a way to fix agenetic problemat its source. The polymers are either translated into proteins, interfere with targetgene expression, or possibly correct genetic mutations. The most common form uses DNA that encodes a functional,therapeutic gene to replace a mutated gene. The polymer molecule is packaged within a "vector", which carries the molecule inside cells. Vectors used in gene therapy, the vector incorporates genes intochromosomes. The expressed nucleases then knock out and replace genes in the chromosome. The Center forCell and Gene Therapyconducts research into numerous diseases, including but not limited to PediatricCancer, HIV gliomaandCardiovascular disease.

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2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, 27 Canada ; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand ; American Society ofGeneandCell Therapy(ASGCT) 20th Annual Meeting, 10 - 13 May 2017, Washington, DC;Genomic Medicine for Clinicians(course), January 25-27, 2017, Hinxton , Cambridge, UK; Embo Conference:ChromatinandEpigenetics, Heidelberg, Germany, May 3, 2017; 14th International Symposium on Variants in theGenomeSantiago de Compostela, Galicia, Spain, June 5 - 8, 2017;

Genetics and Molecular Medicine - American Medical Association;Genetics Society of America / Gsa;British Society for Genetic Medicine;British Society for Gene and Cell Therapy; Australasian Gene Therapy Society.

Track 4:Cell Cancer Immunotherapy

Immunologydeals with the biological and biochemical basis for the body's defense against germs such as bacteria, virus and mycosis (fungal infections) as well as foreign agents such asbiological toxinsand environmental pollutants, and failures and malfunctions of these defense mechanisms. Cancer immunotherapy is the use of the immune system to treat cancer. Immunotherapies can be categorized as active, passive or hybrid (active and passive). Antibodies are proteins produced by the immune system that bind to a target antigen on the cell surface. The immune system normally uses them to fight pathogens. A type of biological therapy that uses substances to stimulate or suppress the immune system to help the body fight cancer, infection, and other diseases. Some types of immunotherapy only target certain cells of the immune system. Others affect the immune system in a general way. Types of immunotherapy include cytokines, vaccines, bacillus Calmette-Guerin (BCG), and some monoclonal antibodies.

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9thAnnual Meeting onImmunologyandImmunologist, July 03-05, 2017 Kuala Lumpur, Malaysia; 8th MolecularImmunology&ImmunogeneticsCongress, March 20-21, 2017 Rome, Italy; 8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; July 03-05, 2017; B Cells and T Follicular Helper Cells Controlling Long-Lived Immunity (D2), April 2017, 2327, Whistler, British Columbia, Canada; Mononuclear Phagocytes in Health,Immune Defense and Disease, 304 May, Austin, Texas, USA;Modeling Viral Infections and ImmunityMAY 2017, 14, Estes Park, Colorado, USA; IntegratingMetabolism and Immunity(E4)292 June, Dublin, Ireland.

The American Association of Immunologists;Clinical Immunology Society ; Indian Immunology Society;IUIS - International Union of Immunological Societies;American Society for Histocompatibility and Immunogenetics.

Track 5:Clinical Genetics

Clinical geneticsis the practice of clinical medicine with particular attention tothe hereditary disorders. Referrals are made togenetics clinicsfor the variety of reasons, includingbirth defects,developmental delay,autism,epilepsy, and many others. In the United States, physicians who practice clinical genetics are accredited by theAmerican Board of Medical Genetics and Genomics(ABMGG).In order to become a board-certified practitioner of a Clinical Genetics, a physician must complete minimum of 24 months of his training in a program accredited by the ABMGG. Individual seeking acceptance intoclinical geneticstraining programs and should hold an M.D. or D.O. degree (or their equivalent)and he/she have completed a minimum of 24 months of their training in ACGME-accredited residency program internal medicine, pediatrics and gynecology or other medical specialty.

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Belgian Society OfHuman GeneticsMeeting 2017 february 17, 2017, Belgium; American College Of Medical Genetics 2017 AnnualClinical GeneticsMeeting march 21-25 2017, phoenix , United States; German Society Of Human Genetics 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017 march 29, 2017 - March 31, 2017, bochum , Germany; Spanish Society OfHuman GeneticsCongress 2017april 25, 2017 - April 28, 2017 madrid , Spain;

Clinical Genetics Associates;Clinical Genetics Society(CGS);The genetic associate;International Conference on Clinical and Medical Genetics;Association for Clinical Genetic Science;The American Society of Human Genetics.

Track 6:Pharmacogenetics

Pharmacogeneticsis the study of inherited genetic differences in drug metabolic pathways which can affect individual responses towards the drugs, both in their terms of therapeutic effect as well as adverse effects. In oncology, Pharmacogenetics historically is the study ofgerm line mutations(e.g., single-nucleotide polymorphisms affecting genes coding forliver enzymesresponsible for drug deposition and pharmacokinetics), whereaspharmacogenomicsrefers tosomatic mutationsin tumoral DNA leading to alteration in drug response.

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Spanish Society OfHuman GeneticsCongress 2017april 25, 2017 - April 28, 2017, madrid , Spain; 8th World Congress onPharmacology, August 07-09, 2017 Paris, France; World Congress onBio therapeutics, May 22-23, 2017, Mexico City, Mexico; 8th World Congress OnPharmacologyAndToxicology, July 24-26, 2017, Melbourne, Australia; German Society Of Human Genetics 28th Annual Meeting, Austrian Society ForHuman GeneticsAnd The Swiss Society OfMedical GeneticsCombined Meeting 2017march 29, 2017 - March 31, 2017 bochum , Germany.

Pharmacogenomics - American Medical Association;Associate Principal Scientist Clinical Pharmacogenetics;European Society of Pharmacogenomics and Personalised Therapy;Genome-wide association studies in pharmacogenomics.

Track 7:Molecular Genetic Pathology

Molecular genetic pathologyis an emerging discipline withinthe pathologywhich is focused in the study and diagnosis of disease through examination of molecules within the organs, tissues or body fluids. A key consideration is more accurate diagnosis is possible when the diagnosis is based on both morphologic changes in tissuestraditional anatomic pathologyand onmolecular testing. Molecular Genetic Pathology is commonly used in diagnosis of cancer and infectious diseases. Integration of "molecular pathology" and "epidemiology" led tointerdisciplinaryfield, termed "molecular pathological epidemiology" (MPE),which representsintegrative molecular biologicand population health science.

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8th World Congress OnMolecular Pathology, June 26-27, 2017 San Diego, USA; 11th International Conference OnSurgical Pathology& Practice, March 27-28, 2017, Madrid, Spain; 13th EuropeanPathologyCongress, Aug 02-03, 2017, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017.

Clinical Pathology Associates Molecular Pathology; Association mapping Wikipedia;Association for Molecular Pathology(AMP);Molecular Pathology - Association of Clinical Pathologists;SELECTBIO - Molecular Pathology Association of India.

Track 8:Gene Mapping

Genomemappingis to place a collection of molecular markers onto their respective positions ongenome.Molecular markerscome in all forms. Genes can be viewed as one special type of genetic markers in construction ofgenome maps, and the map is mapped the same way as any other markers. The quality ofgenetic mapsis largely dependent upon the two factors, the number of genetic markers on the map and the size of themapping population. The two factors are interlinked, and as larger mapping population could increase the "resolution" of the maps and prevent the map being "saturated". Researchers begin a genetic map by collecting samples of blood or tissue from family members that carry a prominent disease or trait and family members that don't. Scientists then isolate DNA from the samples and closely examine it, looking for unique patterns in the DNA of the family members who do carry the disease that the DNA of those who don't carry the disease don't have. These unique molecular patterns in the DNA are referred to as polymorphisms, or markers.

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3rd WorldBio Summit&Expo, Abu Dhabi, UAE, June 19-21, 2017; 9th International Conference onGenomicsandPharmacogenomicsJune 15-16, 2017 London, Uk; Keystone Symposium: Mononuclear Phagocytes in Health,Immune DefenseandDisease, 304 May 2017, Austin, Texas, USA;Molecular Neurodegeneration(course) Hinxton, Cambridge, UK, January 9-14, 2017;

Association for Clinical Genetic Science;Genome-wide association study Wikipedia;Gene mapping by linkage and association analysis NCBI;Gene mapping by linkage and association analysis | Springer Link.

Track 9:ComputationalGenomics

Computational genomics refers to the use of computational and statistical analysis to decipherbiologyfromgenome sequencesand related data, including DNA and RNA sequence as well as other "post-genomic" data. This computational genomics is also known asComputational Genetics. These, in combination with computational and statistical approaches to understanding the function of the genes and statistical association analysis, this field is also often referred to as Computational and Statistical Genetics/genomics. As such, computational genomics may be regarded as a subset of bioinformatics and computational biology, but with a focus on using whole genomes rather than individual genes to understand the principles of how the DNA of a species controls its biology at the molecular level and beyond. With the current abundance of massive biological datasets, computational studies have become one of the most important means to biological discovery.The field is defined and includes foundations in thecomputer sciences,applied mathematics, animation, biochemistry, chemistry, biophysics,molecular genetics,neuroscienceandvisualization. Computational biology is different from biological computation, which is a subfield of computer engineering using bioengineering and biology to build computers, but is similar tobioinformatics.

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Modeling Viral Infections and Immunity,10. MAY 2017, 14, Estes Park, Colorado, USA;Integrating Metabolism and Immunity(E4)292 June, Dublin, Ireland; EMBL Conference:Mammalian GeneticsandGenomics, Heidelberg, Germany, October 24, 2017; EMBO|EMBL Symposium: The Mobile Genome:GeneticandPhysiological Impacts of Transposable Elements, Heidelberg, Germany, October 10, 2017;

American Association of Bio analysts - Molecular/Genetic Testing;ISCB - International Society for Computational Biology;International Society for Computational Biology Wikipedia;Bioinformatics societies OMICtools;Towards an Australian Bioinformatics Society.

Track 10:Molecular Biotechnology

Molecular Biotechnologyis the use of living systems and organisms to develop or to make products, or "any technological application that uses the biological systems, living organisms or derivatives, to make or modify products or processes for specific use. Molecular biotechnology results from the convergence of many areas of research, such as molecular biology, microbiology, biochemistry, immunology, genetics and cell biology. It is an exciting field fueled by the ability to transfer genetic information between organisms with the goal of understanding important biological processes or creating a useful product. The completion of the human genome project has opened a myriad of opportunities to create new medicines and treatments, as well as approaches to improve existing medicines. Molecular biotechnology is a rapidly changing and dynamic field. As the pace of advances accelerates, its influence will increase. The importance and impact of molecular biotechnology is being felt across the nation. Depending on the tools and applications, it often overlaps with the related fields of bioengineering,biomedical engineering, bio manufacturing andmolecular engineering.Biotechnologyalso writes on the pure biological sciences animalcell culture, biochemistry,cell biology, embryology, genetics, microbiology, andmolecular biology.

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8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; World Congress onBio therapeutics, May 22-23, 2017, Mexico City, Mexico;Human Genome Meeting(HGM 2017), February 5-7 2017, Barcelona, Spain;Integrating MetabolismandImmunity (E4), 292 June, Dublin, Ireland.

Biotech Associations - Stanford University;Indian Society of Genetics, Biotechnology Research & Development;Genetics and Molecular Medicine - American Medical Association;Genetics Society of America | GSA, British Society for Genetic Medicine;Heritability in the Era of Molecular Genetics - Association for Psychological science.

Track 11:Genetic Transformation

Genetic Transformationis the genetic alteration of cell resulting from the direct uptake and incorporation ofexogenous genetic materialfrom its surroundings through thecell membrane. Transformation is one of three processes for horizontal gene transfer, in which exogenous genetic material passes from bacterium to another, the other two being conjugation transfer of genetic material between two bacterial cells in direct contact andTransductioninjection offoreign DNAby a bacteriophage virus into thehost bacterium. And about 80 species of bacteria were known to be capable of transformation, in 2014, about evenly divided betweenGram-positiveandGram-negative Transformation" may also be used to describe the insertion of new genetic material into non-bacterial cells, including animal and plant cells.

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13th EuropeanPathologyCongress, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017; 2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, Canada; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk;

American Society of Gene & Cell Therapy: ASGCT;Gene Therapy Societies and Patient Organizations - Gene Therapy Net;European Society of Gene and Cell Therapy (ESGCT);British Society for Gene and Cell Therapy;Gene Therapy - American Medical Association.

Track 12:Genetic Screening

Genetic screenis an experimental technique used to identify and select the individuals who possess a phenotype of interest inmutagenized population. A genetic screen is a type ofphenotypic screen. Genetic screen can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While thegenome projectshave identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how thosegenes function.

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13th EuropeanPathologyCongress, Aug 02-03, 2017, Milan, Italy; 2nd World Congress onHuman Genetics&Genetic Disorders, November 02-03, 2017 Toronto, 27 Canada; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; Embo|Embl Symposium: TheMobile Genome: Genetic And Physiological Impacts Of Transposable Elements, Heidelberg, Germany, October 10, 2017, 10 - 13 May 2017, American Society ofGeneandCell Therapy(ASGCT) 20th Annual Meeting, Washington, DC;

Association for Clinical Genetic Science; Association for Molecular Pathology (AMP);Mapping heritability and molecular genetic associations with cortical;Genetics and Molecular Medicine - American Medical Association.

Track 13:Regulation of Gene Expression

Regulation of Gene expressionincludes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA), and is informally termed gene regulation. Sophisticated programs of gene expression are widely observed in biology, Virtually any step of gene expression can be modulated, fromtranscriptional initiation,RNA processing, and post-translational modificationof a protein. Often, one gene regulator controls another in a gene regulatory network. Any step of gene expression may be modulated, from theDNA-RNA transcriptionstep to post-translational modification of a protein.

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7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand; EMBO|EMBL Symposium: The Mobile Genome:GeneticandPhysiological Impacts of Transposable Elements, Heidelberg, Germany, October 10, 2017; 10. MAY 2017, 14, Estes Park, Colorado, USA,Modeling Viral Infections and Immunity; 292 June, Dublin, Ireland,Integrating Metabolism and Immunity(E4); MAY 2017, 14, Estes Park, Colorado, USA,Modeling Viral InfectionsandImmunity; 8th EuropeanImmunologyConference, June 29-July 01, 2017 Madrid, Spain; 9th International Conference onGenomicsandPharmacogenomics, June 15-16, 2017 London, Uk;

Gene Therapy Societies and Patient Organizations - Gene Therapy Net;European Society of Gene and Cell Therapy (ESGCT);British Society for Gene and Cell Therapy;Gene Therapy - American Medical Association

Track 14: Cancer Gene Therapy

Cancer is an abnormal growth of cells the proximate cause of which is an imbalance in cell proliferation and death breaking-through the normal physiological checks and balances system and the ultimate cause of which are one or more of a variety of gene alterations. These alterations can be structural, e.g., mutations, insertions, deletions, amplifications, fusions and translocations, or functional (heritable changes without changes in nucleotide sequence). No single genomic change is found in all cancers and multiple changes (heterogeneity) are commonly found in each cancer generally independent of histology. In healthy adults, the immune system may recognize and kill the cancer cells or allow non-detrimental host-cancer equilibrium; unfortunately, cancer cells can sometimes escape the immune system resulting in expansion and spread of these cancer cells leading to serious life threatening disease. Approaches to cancer gene therapy include three main strategies: the insertion of a normal gene into cancer cells to replace a mutated (or otherwise altered) gene, genetic modification to silence a mutated gene, and genetic approaches to directly kill the cancer cells. Pathway C represents immunotherapy using altered immune cells. Another unique immunotherapy strategy facilitated by gene therapy is to directly alter the patient's immune system in order to sensitize it to the cancer cells. One approach uses mononuclear circulating blood cells or bone marrow gathered from the patient.

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Track 15:Genetic Transplantation

Transplantation genetics is the field of biology and medicine relating to the genes that govern the acceptance or rejection of a transplant. The most important genes deciding the fate of a transplanted cell, tissue, or organ belong to what is termed the MHC (the major histocompatibility complex). Genetic Transplantation is the moving of an organ from one body to another or from a donor site to another location on the person's own body, to replace the recipient's damaged or absent organ. Organs and/or tissues that aretransplantedwithin the same person's body are calledauto grafts. Transplants that are recently performed between two subjects of the same species are calledallografts. Allografts can either be from a living or cadaveric source Organs that can be transplanted are the heart, kidneys, liver, lungs, pancreas, intestine, and thymus. The kidneys are the most commonlytransplanted organs, followed by the liver and then the heart. The main function of the MHC antigens is peptide presentation to the immune system to help distinguish self from non-self. These antigens are called HLA (human leukocyte antigens). They consists of three regions: class I (HLA-A,B,Cw), class II (HLA-DR,DQ,DP) and class III (no HLA genes)

RelatedMolecular Biology Conferences| Genetics Conferences|Gene Therapy Conferences|Biotechnology Conferences| Immune Cell Therapy Conferences

8th World Congress onPharmacology, August 07-09, 2017 Paris, France; International Conference onClinicalandMolecular Genetics, Las Vegas, USA, April 24-26, 2017; Aug 02-03, 2017, 13th EuropeanPathologyCongress, Milan, Italy; Embl Conference:Mammalian GeneticsAndGenomics, Heidelberg, Germany, October 24, 2017; 7th International Conference onPlant Genomics, July 03-05, 2017, Bangkok, Thailand.

American society of Transplantation;American Society of Transplant Surgeons: ASTS; Patient associations. Donation and transplantation;American Society of Gene & Cell Therapy ASGCT;Gene Therapy Societies and Patient Organizations - Gene Therapy Net.

Track 16:Cytogenetics

Cytogeneticsis a branch ofgeneticsthat is concerned withstudy of the structure and function of the cell, especially thechromosomes. It includes routine analysis of G-banded chromosomes, othercytogenetic banding techniques, as well as molecular Cytogenetics such as fluorescent in suitable hybridization FISH and comparativegenomic hybridization.

RelatedMolecular Biology Conferences| Genetics Conferences|Gene Therapy Conferences|Biotechnology Conferences| Immune Cell Therapy Conferences

European Cytogeneticists Association;Association of Genetic Technologists;Association for Clinical Genetic Science;Cytogenetics - Human Genetics Society of Australasia;European Cytogeneticists Association

Molecular Biology 2016

Molecular Biology 2016 Report

2ndWorld Bio Summit & Molecular Biology Expowas organized during October 10-12, 2016 at Dubai, UAE. The conference was marked with the attendance ofEditorial Board Members of supporting journals, Scientists, young and brilliant researchers, business delegates and talented student communities representing more than 25 countries, who made this conference fruitful and productive.

This conference was based on the theme Recent advances in Bio Science which included the following scientific tracks:

Molecular Biology

Microbiology

Analytical Molecular Biology

Bioinformatics

Biochemistry and Molecular Biology

Molecular Biology and Biotechnology

Cancer Molecular Biology

Computational Biology

Molecular Biology of the Cell

Molecular biology of the cardiovascular system

Molecular Biology in Cellular Pathology

Molecular Biology of Diabetes

Molecular Biology and Genetic Engineering

Enzymology and Molecular Biology

Molecular Biology of the Gene

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Biotechnology News – Biology News – Phys.org – News and …

The hidden evolutionary relationship between pigs and primates revealed by genome-wide study of transposable elements

(Phys.org)In the past, geneticists focused primarily on the evolution of genes in order to trace the relationships between species. More recently, genetic elements called SINEs (short interspersed elements) have emerged ...

Invisible to the naked eye, plant-parasitic nematodes are a huge threat to agriculture, causing billions in crop losses every year. Plant scientists at the University of Missouri and the University of Bonn in Germany have ...

A team including the scientist who first harnessed the revolutionary CRISPR-Cas9 system for mammalian genome editing has now identified a different CRISPR system with the potential for even simpler and more precise genome ...

A team of scientists at the University of Washington and the biotechnology company Illumina have created an innovative tool to directly detect the delicate, single-molecule interactions between DNA and enzymatic proteins. ...

To feed the world's burgeoning population, producers must grow crops in more challenging terrain where plant roots must cope with barriers. To that end, Cornell University physicists and Boyce Thompson Institute plant ...

(Phys.org)'Brains, Genes, and Primates' is the title of a curious perspective article recently published in the journal Neuron. In it, a who's who of dignitaries and luminaries from the field of neuroscience toss out a ...

Along the northern edge of the Gulf of Mexico is a 6,000-square mile dead zone of oxygen-depleted water filled with dead plants, dead fish and a damaged ecosystem.

A team of scientists from the University of California, Riverside and the International Rice Research Institute (IRRI), the Philippines, recently published a study unlocking the secret to just how rice seeds might be able ...

Stanford researchers have ripped the guts out of a virus and totally redesigned its core to repurpose its infectious capabilities into a safe vehicle for delivering vaccines and therapies directly where they are needed.

(Phys.org)In sub-Saharan Africa, few agricultural parasites are as devastating to a wide variety of crops as Striga hermonthica, commonly known as witchweed. It chokes out such staple crops as sorghum, millet and rice, ...

(Phys.org)Coral reefs are the most diverse marine ecosystems, biodiversity hotspots now under anthropogenic threat from climate change, ocean acidification and pollution. Efforts are underway to protect and expand shrinking ...

The world population, which stood at 2.5 billion in 1950, is predicted to increase to 10.5 billion by 2050. It's a stunning number since it means the planet's population has doubled within the lifetimes of many people alive ...

(Phys.org)What have viruses ever done for humans? The question is debatable, but given the prevalence of highly contagious, and sometimes life-threatening illnesses caused by viruses, it's fair to say that most people ...

Forget the Vulcan mind-meld of the Star Trek generationas far as mind control techniques go, bacteria is the next frontier.

Overcoming limitations of super-resolution microscopy to optimize imaging of RNA in living cells is a key motivation for physics graduate student Takuma Inoue, who works in the lab of MIT assistant professor of physics Ibrahim ...

For thousands of years, people have used yeast to ferment wine, brew beer and leaven bread.

(Phys.org)Rice is one of the most important staple crops grown by humansvery possibly the most important in history. With 4.3 billion inhabitants, Asia is home to 60 percent of the world's population, so it's unsurprising ...

A gene that helps plants to remain healthy during times of stress has been identified by researchers at Oxford University. Its presence helps plants to tolerate environmental pressures like droughtand it could help create ...

China's struggle - mirrored across the globeto balance public concern over the safety of genetically modified (GM) crops with a swelling demand for affordable food crops has left a disconnect: In China's case, shrinking ...

A gene that triggers remodeling of neural circuits in C. elegans during development has been identified by Michael Francis, PhD, associate professor of neurobiology. The study, details of which were published in Current Biology, ...

Researchers are able to clone domestic animals using various techniques, including embryo splitting and nuclear transfer, but the expense and inherent inefficiencies of most cloning processes have limited procedures to research ...

Research teams from the University of Valencia and the University of Tours have discovered that genes originating from parasitic wasps are present in the genomes of many butterflies. These genes were acquired through a wasp-associated ...

If you go back far enough, all people share a common ancestry. But some populations are more closely related than others based on events in the past that brought them together. Now, researchers reporting in the Cell Press ...

(Phys.org)Human genomic diversity studies provide a window to population movements across regions and societies throughout history. Generally, South America has been underrepresented in such studies, but recognizing that ...

The burgeoning field of optogenetics has seen another breakthrough with the creation of a new plant-human hybrid protein molecule called OptoSTIM1. In South Korea, a research team led by Won Do Heo, associate professor at ...

A new study from researchers at Uppsala University shows that variation in genome size may be much more important than previously believed. It is clear that, at least sometimes, a large genome is a good genome.

The face of a chimpanzee is decidedly different from that of a human, despite the fact that the apes are our nearest relative in the primate tree. Now researchers at the Stanford University School of Medicine have begun to ...

What has spoiled tens upon tens of thousands of fledgling oil palm plants at elite corporate plantations in Malaysia and elsewhere in Southeast Asia over the last three decades? The answer to this problem, which has cost ...

Fans of homebrewed beer and backyard distilleries already know how to employ yeast to convert sugar into alcohol. But a research team led by bioengineers at the University of California, Berkeley, has gone much further by ...

(Phys.org)In the complex, somewhat rarified world of interactions between various flavors of RNA, one elusive goal is to understand the precise regulatory relationships between competing endogenous RNA (ceRNA), microRNA ...

A study on a sorghum population at Kansas State University has helped researchers better understand why a crop hybrid often performs better than either of its parent lines, known as heterosis.

The CRISPR-Cas9 system has been in the limelight mainly as a revolutionary genome engineering tool used to modify specific gene sequences within the vast sea of an organism's DNA. Cas9, a naturally occurring protein in the ...

University of Adelaide research has shown for the first time that, despite not having a nervous system, plants use signals normally associated with animals when they encounter stress.

Genes that express in precisely timed patterns, known as oscillatory genes, play an essential role in development functions like cell division, circadian rhythms and limb formation. But without a time-lapse view of genetic ...

Hand-written letters and printed photos seem quaint in today's digital age. But there's one thing that traditional media have over hard drives: longevity. To address this modern shortcoming, scientists are turning to DNA ...

Barley, a widely grown cereal grain commonly used to make beer and other alcoholic beverages, possesses a large and highly repetitive genome that is difficult to fully sequence. Now a team led by scientists at the University ...

Researchers in Canada and the U.K. have for the first time sequenced and assembled de novo the full genome of a living organism, the bacteria Escherichia Coli, using Oxford Nanopore's MinION device, a genome sequencer that ...

Researchers at the University of Georgia have used a gene editing tool known as CRISPR/Cas to modify the genome of a tree species for the first time. Their research, published recently in the early online edition of the journal ...

High salt in soil dramatically stresses plant biology and reduces the growth and yield of crops. Now researchers have found specific proteins that allow plants to grow better under salt stress, and may help breed future generations ...

Growing the right number of vertebrae in the right places is an important job and scientists have found the molecules that act like 'theatre directors' for vertebrae genes in mice: telling them how much or how little ...

Ten thousand years ago, a golden grain got naked, brought people together and grew to become one of the top agricultural commodities on the planet.

One of the enduring mysteries of the human experience is how and why humans moved from hunting and gathering to farming.

Researchers from North Carolina State University and the University of North Carolina at Chapel Hill have for the first time created and used a nanoscale vehicle made of DNA to deliver a CRISPR-Cas9 gene-editing tool into ...

Nitrogen and phosphate nutrients are among the biggest costs in cultivating algae for biofuels. Sandia molecular biologists Todd Lane and Ryan Davis have shown they can recycle about two-thirds of those critical nutrients, ...

Mosquitoes are a key contributor to the spread of potentially deadly diseases such as dengue and malaria, as they harbor parasites and viruses that are spread when mosquitoes bite humans and animals. Now, researchers at the ...

Natural selection is a race to reproduce, a competition between individuals with varying traits that helps direct the evolution of a species. As scientists begin to explore the complex networks of genes that shape the form ...

(Phys.org)A team of researchers at British company Oxitec has developed a genetic approach to controlling diamondback moth caterpillars and report that trials in greenhouse conditions has gone so well that they are ready ...

A new technology that will dramatically enhance investigations of epigenomes, the machinery that turns on and off genes and a very prominent field of study in diseases such as stem cell differentiation, inflammation and cancer, ...

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Search Results for: transposable elements human disease

Human genome – Wikipedia

Medicine’s Movable Feast: What Jumping Genes Can Teach Us about Treating Disease – Scientific American

Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study) – BMC Medicine – BMC Medicine

Surprises in Cell Codes Reveal Information Goes Far Beyond DNA – Discovery Institute

Molecular Genetics – Cell and Gene Therapy Conferences

Biotechnology News – Biology News – Phys.org – News and …

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