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Encyclopedia > Human genome
A graphical representation of the normal human karyotype.

The human genome is the genome of Homo sapiens, which is composed of 24 distinct chromosomes (22 autosomal + X + Y) with a total of approximately 3 billion DNA base pairs containing an estimated 20,000–25,000 genes. [1] The Human Genome Project has produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences. The human genome is much more gene-sparse than was initially predicted at the outset of the Human Genome Project, with only about 1.5% of the total length serving as protein-coding exons, with the rest of the genome comprised by RNA genes, regulatory sequences, introns and controversially so-called junk DNA.[2] Image File history File links Download high resolution version (1077x1159, 174 KB) Summary Modified from Human Genome Project Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File links Download high resolution version (1077x1159, 174 KB) Summary Modified from Human Genome Project Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Karyogram of human male using Giemsa staining. ... In biology the genome of an organism is the whole hereditary information of an organism that is encoded in the DNA (or, for some viruses, RNA). ... Homo sapiens (Latin: wise man) is the scientific name for the human species. ... This article is about the biological chromosome. ... An autosome is a non-sex chromosome. ... ‹ The template below (Expand) is being considered for deletion. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ... Base pairs, of a DNA molecule. ... For other uses, see Gene (disambiguation). ... The Human Genome Project (HGP) is a project undertaken with a goal to understand the genetic make-up of the human species by identifying all the genes in the human genome and mapping how individual genes are sequenced. ... Euchromatin is a lightly packed form of chromatin that is rich in gene concentration, and is often (but not always) under active transcription. ... Health science is the discipline of applied science which deals with human and animal health. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... The exon portion of a DNA strand encodes a specific portion of a protein. ... A non-coding RNA (ncRNA) is any RNA molecule that functions without being translated into a protein. ... A regulatory sequence (also called regulatory region or ~ element) is a promoter, enhancer or other segment of DNA where regulatory proteins such as transcription factors bind preferentially. ... Diagram of the location of introns and exons within a gene. ... In molecular biology, junk DNA is a collective label for the portions of the DNA sequence of a chromosome or a genome for which no function has yet been identified. ...

Contents

Features

Chromosomes

The human genome is composed of 23 pairs of chromosomes (46 in total), each of which contain hundreds of genes separated by intergenic regions. Intergenic regions may contain regulatory sequences and non-coding DNA.
The human genome is composed of 23 pairs of chromosomes (46 in total), each of which contain hundreds of genes separated by intergenic regions. Intergenic regions may contain regulatory sequences and non-coding DNA.

There are 24 distinct human chromosomes: 22 autosomal chromosomes, plus the sex-determining X and Y chromosomes. Chromosomes 1–22 are numbered roughly in order of decreasing size. Somatic cells usually have one copy of chromosomes 1–22 from each parent, plus an X chromosome from the mother, and either an X or Y chromosome from the father, for a total of 46. Image File history File links Download high resolution version (1454x866, 341 KB) Illustration of the human genome, from the genome to a chromosome, and from a chromosome to genes. ... Image File history File links Download high resolution version (1454x866, 341 KB) Illustration of the human genome, from the genome to a chromosome, and from a chromosome to genes. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... A graphical representation of the normal human karyotype. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... An autosome is a non-sex chromosome. ... The XY sex-determination system is a well-known sex-determination system. ... ‹ The template below (Expand) is being considered for deletion. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... This article does not cite any references or sources. ...


Genes

There are an estimated 20,000–25,000 human protein-coding genes. 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. [3] For other uses, see Gene (disambiguation). ... Gene finding is the area of computational biology that is concerned with algorithmically identifying stretches of sequence, usually genomic DNA, that are biologically functional. ...


Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly. However, human cells make extensive use of alternative splicing to produce several different proteins from a single gene, and the human proteome is thought to be much larger than those of the aforementioned organisms. Binomial name Maupas, 1900 Caenorhabditis elegans (IPA: ) is a free-living nematode (roundworm), about 1 mm in length, which lives in temperate soil environments. ... Binomial name Meigen, 1830[1] Drosophila melanogaster (from the Greek for black-bellied dew-lover) is a two-winged insect that belongs to the Diptera, the order of the flies. ... Various modes of alternative splicing Alternative splicing is the process that occurs in eukaryotes in which the splicing process of a pre-mRNA transcribed from one gene can lead to different mature mRNA molecules and therefore to different proteins. ... The term proteome was coined by Mark Wilkins in 1995 (1) and is used to describe the entire complement of proteins in a given biological organism or system at a given time, i. ...


Most human genes have multiple exons, and human introns are frequently much longer than the flanking exons. An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ... Diagram of the location of introns and exons within a gene. ...


Human genes are distributed unevenly across the chromosomes. Each chromosome contains various gene-rich and gene-poor regions, which seem to be correlated with chromosome bands and GC-content. The significance of these nonrandom patterns of gene density is not well understood. A metaphase cell positive for the bcr/abl rearrangement using FISH Cytogenetics is the study of the structure of chromosome material. ... In genetics, the guanine-cytosine content (GC content) is the ratio of guanine and cytosine to the total number of nucleotides of a given genome. ...


In addition to protein coding genes, the human genome contains thousands of RNA genes, including tRNA, ribosomal RNA, microRNA, and other non-coding RNA genes. A non-coding RNA (ncRNA) is any RNA molecule that functions without being translated into a protein. ... Transfer RNA (abbreviated tRNA) is a small RNA chain (74-93 nucleotides) that transfers a specific amino acid to a growing polypeptide chain at the ribosomal site of protein synthesis during translation. ... Figure 1: Ribosome structure indicating small subunit (A) and large subunit (B). ... The stem-loop secondary structure of a pre-microRNA from Brassica oleracea. ...


Regulatory sequences

The human genome has many different regulatory sequences which are crucial to controlling gene expression. These are typically short sequences that appear near or within genes. A systematic understanding of these regulatory sequences and how they together act as a gene regulatory network is only beginning to emerge from computational, high-throughput expression and comparative genomics studies. In biochemistry, a regulatory region is a DNA base sequence that controls gene expression. ... Gene expression, or simply expression, is the process by which the inheritable information which comprises a gene, such as the DNA sequence, is made manifest as a physical and biologically functional gene product, such as protein or RNA. Several steps in the gene expression process may be modulated, including the... A gene regulatory network (also called a GRN or genetic regulatory network) is a collection of DNA segments in a cell which interact with each other (indirectly through their RNA and protein expression products) and with other substances in the cell, thereby governing the rates at which genes in the... Comparative genomics is the study of relationships between the genomes of different species or strains. ...

Identification of regulatory sequences relies in part on evolutionary conservation. The evolutionary branch between the human and mouse, for example, occurred 70–90 million years ago.[4] 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. [5] Image File history File links Broom_icon. ... Feral mouse A mouse (plural mice) is a rodent that belongs to one of numerous species of small mammals. ...


Another comparative genomic approach to locating regulatory sequences in humans is the gene sequencing of the puffer fish. These vertebrates have essentially the same genes and regulatory gene sequences as humans, but with only one-eighth the "junk" DNA. The compact DNA sequence of the puffer fish makes it much easier to locate the regulatory genes.[6] Genera Amblyrhynchotes Arothron Auriglobus Canthigaster Carinotetraodon Chelonodon Colomesus Contusus Ephippion Feroxodon Fugu Gastrophysus Javichthys Lagocephalus Liosaccus Marilyna Monotretus Omegaphora Pelagocephalus Polyspina Reicheltia Sphoeroides Takifugu Tetractenos Tetraodon Torquigener Tylerius Xenopterus The pufferfish, also called blowfish, swellfish, balloonfish are fish making up the family Tetraodontidae, within the order Tetraodontiformes. ...


Other DNA

Protein-coding sequences (specifically, coding exons) comprise less than 1.5% of the human genome.[2] Aside from genes and known regulatory sequences, the human genome contains vast regions of DNA the function of which, if any, remains unknown. These regions in fact comprise the vast majority, by some estimates 97%, of the human genome size. Much of this is comprised of: An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ... Genome size refers to the total amount of DNA contained within one copy of a genome. ...


repeat elements

In the study of DNA sequences, one can distinguish two main types of repeated sequence: Tandem repeats: Satellite DNA, Minisatellite, Microsatellite; Interspersed repeats: SINEs (Short INterspersed Elements), LINEs (Long INterspersed Elements). ... This is a term from genetics, which describes a pattern that helps determine an individuals inherited traits. ... Satellite DNA consists of highly repetitive DNA, and is so called because repetitions of a short DNA sequence tend to produce a different frequency of the nucleotides adenine, cytosine, guanine and thymine, and thus have a different density from bulk DNA - such that they form a second or satellite band... A minisatellite is a section of DNA that consists of a short series of bases 10-100bp, these occur at more than 1000 locations in the Genome. ... Microsatellites, or Simple Sequence Repeats (SSRs), are polymorphic loci present in nuclear DNA that consist of repeating units of 1-4 base pairs in length [1]. They are typically neutral, co-dominant and are used as molecular markers which have wide-ranging applications in the field of genetics, including kinship... Interspersed repetitive DNA is found in all eukaryotic genomes. ... SINEs are present in great numbers in many eukaryote genomes. ... Retrotransposons are genetic elements than can amplify themselves in a genome and are ubiquitous components of the DNA of many eukaryotic organisms. ...

transposons

Transposons are sequences of DNA that can move around to different positions within the genome of a single cell, a process called transposition. ... Retrotransposons are genetic elements than can amplify themselves in a genome and are ubiquitous components of the DNA of many eukaryotic organisms. ... Retrotransposons are genetic elements than can amplify themselves in a genome and are ubiquitous components of the DNA of many eukaryotic organisms. ... SINEs are present in great numbers in many eukaryote genomes. ... Retrotransposons are genetic elements than can amplify themselves in a genome and are ubiquitous components of the DNA of many eukaryotic organisms. ... Transposons are sequences of DNA that can move around to different positions within the genome of a single cell, a process called Transposition. ...

pseudogenes

However, there is also a large amount of sequence that does not fall under any known classification. A pseudogene is a nucleotide sequences that is similar to a normal gene, but is not expressed as a functional protein. ...


Much of this sequence may be an evolutionary artifact that serves no present-day purpose, and these regions are sometimes collectively referred to as "junk" DNA. There are, however, a variety of emerging indications that many sequences within are likely to function in ways that are not fully understood. Recent experiments using microarrays have revealed that a substantial fraction of non-genic DNA is in fact transcribed into RNA,[7] which leads to the possibility that the resulting transcripts may have some unknown function. Also, the evolutionary conservation across the mammalian genomes of much more sequence than can be explained by protein-coding regions indicates that many, and perhaps most, functional elements in the genome remain unknown.[8] The investigation of the vast quantity of sequence information in the human genome whose function remains unknown is currently a major avenue of scientific inquiry. [9] In molecular biology, junk DNA is a collective label for the portions of the DNA sequence of a chromosome or a genome for which no function has yet been identified. ... It has been suggested that Gene chip technology be merged into this article or section. ... Ribonucleic acid or RNA is a nucleic acid polymer consisting of nucleotide monomers that plays several important roles in the processes that translate genetic information from deoxyribonucleic acid (DNA) into protein products; RNA acts as a messenger between DNA and the protein synthesis complexes known as ribosomes, forms vital portions... Subclasses & Infraclasses Subclass †Allotheria* Subclass Prototheria Subclass Theria Infraclass †Trituberculata Infraclass Metatheria Infraclass Eutheria Mammals (class Mammalia) are warm-blooded, vertebrate animals characterized by the presence of sweat glands, including those that produce milk, and by the presence of: hair, three middle ear bones used in hearing, and a neocortex...


Variation

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 on average somewhere between every 1 in 100 and 1 in 1,000 base pairs 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", [10] 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. [11] A large-scale collaborative effort to catalog SNP variations in the human genome is being undertaken by the International HapMap Project. DNA strand 1 differs from DNA strand 2 at a single base-pair location (a C/T polymorphism). ... Euchromatin is a lightly packed form of chromatin that is rich in gene concentration, and is often (but not always) under active transcription. ... For other uses, see Race (disambiguation). ... The gene copy number (also copy number variants or CNVs) is the amount of copies of a particular gene in the genotype of an individual. ... The goal of the International HapMap Project is to develop a haplotype map of the human genome, also referred to as the HapMap, which will describe the common patterns of human genetic variation. ...


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. In the study of DNA sequences, one can distinguish two main types of repeated sequence: Tandem repeats: Satellite DNA, Minisatellite, Microsatellite; Interspersed repeats: SINEs (Short INterspersed Elements), LINEs (Long INterspersed Elements). ... Genetic fingerprinting or DNA testing is a technique to distinguish between individuals of the same species using only samples of their DNA. Its invention by Sir Alec Jeffreys at the University of Leicester was announced in 1985. ... A paternity test is conducted to prove paternity, that is, whether a man is the biological father of another individual. ... For differently-colored eyes, see Heterochromia. ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...


Most gross genomic mutations in 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. A gamete is a specialized germ cell that fuses with another gamete during fertilization (conception) in organisms that reproduce sexually. ... Nondisjunction is the failure of the chromosomes to properly segregate during meiotic or mitotic anaphase, resulting in daughter cells with abnormal numbers of chromosomes. ... Cancer is a class of diseases or disorders characterized by uncontrolled division of cells and the ability of these to spread, either by direct growth into adjacent tissue through invasion, or by implantation into distant sites by metastasis (where cancer cells are transported through the bloodstream or lymphatic system). ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Cause and Effect is considered by many fans to be one of the best episodes of the series Star Trek: The Next Generation. ...


Genetic disorders

For more details on this topic, see Genetic disorder.

These conditions are caused by abnormal expression of one or more genes that matches a clinical phenotype. The disorder may be caused by a gene mutation, an abnormal number of chromosomes, or triplet expansion repeat mutations. Defective genes can be inherited from the parents, in which case it is known as a hereditary disease. There are around 4,000 known genetic disorders,[citation needed] with the most common being cystic fibrosis.


Studies of genetic disorders is often performed by means of population genetics. Treatment is performed by a geneticist-physician trained in clinical 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. Population genetics is the study of the distribution of and change in allele frequencies under the influence of the four evolutionary forces: natural selection, genetic drift, mutation, and migration. ... A geneticist is a scientist who studies genetics, the science of heredity and variation of organisms. ... The Human Genome Project (HGP) is a project undertaken with a goal to understand the genetic make-up of the human species by identifying all the genes in the human genome and mapping how individual genes are sequenced. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or...


One major gross effect on human phenotypes derives from gene dosage, whose effects play a role in disorders caused by duplication, omission, or disruption of chromosomes. For example, those afflicted with Down syndrome, or trisomy 21, experience high rates of Alzheimer's disease, an effect thought to be related to the overexpression of the Alzheimer's-related amyloid precursor protein whose gene is located on chromosome 21.[12] By contrast, Down's syndrome sufferers experience lower rates of breast cancer, possibly due to the overexpression of a tumor-suppressor gene.[13] Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ... Gene dosage is the number of copies of a gene present in a cell or nucleus. ... A child with Down syndrome Down syndrome (also called Downs syndrome) encompasses a number of genetic disorders, of which trisomy 21 (a nondisjunction) is the most representative, causing highly variable degrees of learning difficulties and physical disabilities. ... The metal-binding domain of APP with a bound copper ion. ... Breast cancer is cancer of breast tissue. ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ...


Evolution

See also: Human evolution and Chimpanzee Genome Project

Comparative genomics studies of mammalian genomes suggest that approximately 5% of the human genome has been conserved by evolution since the divergence of those species approximately 200 million years ago, containing the vast majority of genes.[8][9] Intriguingly, since genes and known regulatory sequences probably comprise less than 2% of the genome, this suggests that there may be more unknown functional sequence than known functional sequence. A smaller, but large, fraction of human genes seem to be shared among most known vertebrates. // For the history of humans on Earth, see History of the world. ... The Chimpanzee Genome Project is an effort to determine the DNA sequence of the genome of the closest living human relatives. ... Comparative genomics is the study of relationships between the genomes of different species or strains. ... This article does not cite any references or sources. ...


The chimpanzee genome is 95% identical to the human genome. 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.[14] Type species Simia troglodytes Blumenbach, 1775 distribution of Species Pan troglodytes Pan paniscus Chimpanzee, often shortened to chimp, is the common name for the two extant species in the genus Pan. ... Orthologs are genes in different species which evolved from a common ancestral gene. ... Phenylalanine is one of the standard amino acids. ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. ...


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.[15] Olfactory receptors are a type of G protein-coupled receptor in olfactory receptor neurons. ... Young boy smelling a flower Olfaction, which is also known as Olfactics is the sense of smell, and the detection of chemicals dissolved in air. ... Color vision is the capacity of an organism or machine to distinguish objects based on the wavelengths (or frequencies) of the light they reflect or emit. ... Families 15, See classification A primate is any member of the biological order Primates, the group that contains all the species commonly related to the lemurs, monkeys, and apes, with the latter category including humans. ...


Mitochondrial genome

The human mitochondrial genome, while usually not included when referring to the "human genome", 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) The mitochondrial genome is the genetic material of the mitochondria. ... Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the powerhouses of the eukaryotic cells that comprise higher-order lifeforms (including humans). ... Mitochondrial Eve (mt-mrca) is the name given by researchers to the woman who is the matrilineal most recent common ancestor (MRCA) for all living humans. ...


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 increase in the 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.[16] Native Americans redirects here. ... “Siberian” redirects here. ... Carving from the ridgepole of a Māori house, ca 1840 Polynesia (from Greek: πολύς many, νῆσος island) is a large grouping of over 1,000 islands scattered over the central and southern Pacific Ocean. ... For other uses, see Asia (disambiguation). ... For other uses, see Neanderthal (disambiguation). ...


Epigenome

See also: Epigenetics

A variety of features of the human genome that transcend its primary DNA sequence, such as chromatin packaging, histone modifications and DNA methylation, are important in regulating gene expression, genome replication and other cellular processes.[17][18] These "epigenetic" features are thought to be involved in cancer and other abnormalities, and some may be heritable across generations. Epigenetics is a term in biology used today to refer to features such as chromatin and DNA modifications that are stable over rounds of cell division but do not involve changes in the underlying DNA sequence of the organism. ... Image File history File links This is a lossless scalable vector image. ... Chromatin is the complex of DNA and protein found inside the nuclei of eukaryotic cells. ... Schematic representation of the assembly of the core histones into the nucleosome. ... DNA methylation is a type of chemical modification of DNA that can be inherited without changing the DNA sequence. ...


See also

Eukaryotic chromosome fine structure refers to the structure of sequences for eukaryotic chromosomes. ... Eugenics is the self-direction of human evolution: Logo from the Second International Congress of Eugenics, 1921, depicting it as a tree which unites a variety of different fields. ... The Human Genome Project (HGP) is a project undertaken with a goal to understand the genetic make-up of the human species by identifying all the genes in the human genome and mapping how individual genes are sequenced. ... Genome sizes and corresponding composition of six major model organisms as pie charts. ... The Genographic Project, launched in April 2005, is a five-year genetic anthropology study that aims to map historical human migration patterns by collecting and analyzing DNA samples from over 100,000 people across five continents. ... Karyogram of human male using Giemsa staining. ... Mitochondrial Eve (mt-mrca) is the name given by researchers to the woman who is the matrilineal most recent common ancestor (MRCA) for all living humans. ... In human genetics, Y-chromosomal Adam (Y-mrca) is the male counterpart to mitochondrial Eve: the most recent common ancestor from whom all male human Y chromosomes are descended. ... Genetic distance is a measure of the disimilarity of genetic material between different species or individuals of the same species. ... This article does not cite any references or sources. ... On September 4th, 2007, a team led by Craig Venter, published his complete DNA sequence[1], unveiling the six-billion-letter genome of a single individual for the first time. ...

References

  1. ^ International Human Genome Sequencing Consortium (2004). "Finishing the euchromatic sequence of the human gspot.". Nature 431 (7011): 931-45. PMID 15496913.  [1]
  2. ^ a b International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human genome.". Nature 409 (6822): 860-921. PMID 11237011.  [2]
  3. ^ Science 316 p 1113 25-May-2007, probably in the range 20,488-20,588. (note, this is a news article in Science magazine reporting on a conference presentation. It is not a peer-reviewed publication, and therefore its figures should not be considered "authoritative")
  4. ^ Nei M, Xu P, Glazko G (2001). "Estimation of divergence times from multiprotein sequences for a few mammalian species and several distantly related organisms.". Proc Natl Acad Sci U S A 98 (5): 2497-502. PMID 11226267. 
  5. ^ Loots G, Locksley R, Blankespoor C, Wang Z, Miller W, Rubin E, Frazer K (2000). "Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons.". Science 288 (5463): 136-40. PMID 10753117.  Summary
  6. ^ Meunier, Monique. Genoscope and Whitehead announce a high sequence coverage of the Tetraodon nigroviridis genome (English). Genoscope. Retrieved on 2006-09-12.
  7. ^ "...a tiling array with 5-nucleotide resolution that mapped transcription activity along 10 human chromosomes revealed that an average of 10% of the genome (compared to the 1 to 2% represented by bona fide exons) corresponds to polyadenylated transcripts, of which more than half do not overlap with known gene locations.Claverie J (2005). "Fewer genes, more noncoding RNA.". Science 309 (5740): 1529-30. PMID 16141064. 
  8. ^ a b "...the proportion of small (50-100 bp) segments in the mammalian genome that is under (purifying) selection can be estimated to be about 5%. This proportion is much higher than can be explained by protein-coding sequences alone, implying that the genome contains many additional features (such as untranslated regions, regulatory elements, non-protein-coding genes, and chromosomal structural elements) under selection for biological function." Mouse Genome Sequencing Consortium (2002). "Initial sequencing and comparative analysis of the mouse genome.". Nature 420 (6915): 520-62. PMID 12466850. 
  9. ^ a b The ENCODE Project Consortium (2007). ""Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project"". Natuer 447: 799-816. 
  10. ^ from Bill Clinton's 2000 State of the Union address [3]
  11. ^ [4]
  12. ^ Armstrong R, Cairns N, Myers D, Smith C, Lantos P, Rossor M (1996). "A comparison of beta-amyloid deposition in the medial temporal lobe in sporadic Alzheimer's disease, Down's syndrome and normal elderly brains.". Neurodegeneration 5 (1): 35-41. PMID 8731380. 
  13. ^ Kwak HI, Gustafson T, Metz RP, Laffin B, Schedin P, Porter WW. "Inhibition of breast cancer growth and invasion by single-minded 2s.". Carcinogenesis epub. PMID 16840439. 
  14. ^ "Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage" The Chimpanzee Sequencing and Analysis Consortium (2005). "Initial sequence of the chimpanzee genome and comparison with the human genome.". Nature 437 (7055): 69-87. PMID 16136131. 
    "Large-scale sequencing of the chimpanzee genome is now imminent."Olson M, Varki A (2003). "Sequencing the chimpanzee genome: insights into human evolution and disease.". Nat Rev Genet 4 (1): 20-8. PMID 12509750. 
  15. ^ "Our findings suggest that the deterioration of the olfactory repertoire occurred concomitant with the acquisition of full trichromatic color vision in primates." Gilad Y, Wiebe V, Przeworski M, Lancet D, Pääbo S (2004). "Loss of olfactory receptor genes coincides with the acquisition of full trichromatic vision in primates.". PLoS Biol 2 (1): E5. PMID 14737185. 
  16. ^ Sykes, Bryan (2003-10-09). Mitochondrial DNA and human history (English). The Human Genome. Retrieved on 2006-09-19.
  17. ^ http://www.cell.com/content/article/abstract?uid=PIIS0092867407001262
  18. ^ http://www.cell.com/content/article/abstract?uid=PIIS0092867407001286
  • Lindblad-Toh K, et al. (2005). "Genome sequence, comparative analysis and haplotype structure of the domestic dog.". Nature 438 (7069): 803-19. PMID 16341006. [5]

Science is the journal of the American Association for the Advancement of Science (AAAS). ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 255th day of the year (256th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 262nd day of the year (263rd in leap years) in the Gregorian calendar. ...

External links

A karyotype of a human male, showing 46 chromosomes including XY sex chromosomes. ... Human evolutionary genetics studies how one human genome differs from the other, the evolutionary past that gave rise to it, and its current effects. ... This article does not cite any references or sources. ... The Y chromosome is one of the most reliable method of tracing the history of early humans. ... // Origins of modern humans see also single-origin hypothesis, multiregional hypothesis. ... // For the history of humans on Earth, see History of the world. ...


  Results from FactBites:
 
Human genome - Wikipedia, the free encyclopedia (1470 words)
The human genome is the genome of Homo sapiens sapiens.
Comparative genomics studies of mammalian genomes suggest that approximately 5% of the human genome has been conserved by evolution since the divergence of those species approximately 200 million years ago, containing the vast majority of genes and regulatory sequences.
The chimpanzee genome is approximately 95% identical to the human genome.
Human Genome Project - Wikipedia, the free encyclopedia (2253 words)
The Human Genome Project (HGP) endeavoured to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it.
While the human DNA sequence offers the most tangible benefits, important developments in biology and medicine are predicted as a result of the sequencing of model organisms, including mice, fruit flies, zebrafish, yeast, nematodes, and many microbial organisms and parasites.
The sequencing of the human genome was made possible, in part by the development of a new technology, termed Rolling Circle Amplification Technology, that amplified the number of copies of DNA in the samples being sequenced, thereby facilitating the analysis.
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