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20-September-2008 09:55:58 - 2 human Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs 1 the building material of DNA and representing almost 8% of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains 1,491 genes, including those of the HOXD homeobox gene cluster.2 Contents 1 Evolution 2 Genes 3 Related diseases disorders 4 References 5 External Links Evolution Further information: Genes of the Chromosome 2 fusion site Chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes. 34 The evidence for this includes: The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the bonobo, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan. 56 The presence of a vestigial centromere. Normally a chromosome has just one centromere, but in chromosome 2 we see remnants of a second. 7 The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 we see additional telomere sequences in the middle. 8 Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere Chromosome 2 is thus strong evidence in favour of the common descent of humans and other apes. According to researcher J. W. IJdo, We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.8 Genes The following genes are located on chromosome 2: ABCA12: ATP-binding cassette, sub-family A ABC1, member 12 ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8 AGXT: alanine-glyoxylate aminotransferase oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase ALMS1: Alstrom syndrome 1 ALS2: amyotrophic lateral sclerosis 2 juvenile BMPR2: bone morphogenetic protein receptor, type II serine/threonine kinase COL3A1: collagen, type III, alpha 1 Ehlers-Danlos syndrome type IV, autosomal dominant COL4A3: collagen, type IV, alpha 3 Goodpasture antigen COL4A4: collagen, type IV, alpha 4 COL5A2: collagen, type V, alpha 2 HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase trifunctional protein, alpha subunit HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase trifunctional protein, beta subunit MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 E. coli MSH6: mutS homolog 6 E. coli NR4A2: nuclear receptor subfamily 4, group A, member 2 OTOF: otoferlin PAX3: paired box gene 3 Waardenburg syndrome 1 PAX8: paired box gene 8 SLC40A1: solute carrier family 40 iron-regulated transporter, member 1 TPO: thyroid peroxidase Related diseases disorders The following diseases are related to genes located on chromosome 2: Alport syndrome Alström syndrome Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis, type 2 Congenital hypothyroidism Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classical type Ehlers-Danlos syndrome, vascular type Harlequin ichthyosis Hemochromatosis Hemochromatosis, type 4 Herary nonpolyposis colorectal cancer Infantile-onset ascending herary spastic paralysis Juvenile primary lateral sclerosis Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Maturity onset diabetes of the young type 6 Mitochondrial trifunctional protein deficiency Nonsyndromic deafness Nonsyndromic deafness, autosomal recessive Primary hyperoxaluria Primary pulmonary hypertension Sitosterolemia knockout of either ABCG5 or ABCG8 Waardenburg syndrome References ^ Hillier et al 2005. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434 7034: 724-31. doi:10.1038/nature03466. PMID 15815621. ^ Vega Homo sapiens Overview of Chromosome 2 ^ Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006. ^ Evidence of Common Ancestry: Human Chromosome 2 video 2007 ^ Yunis and Prakash 1982. The origin of man: a chromosomal pictorial legacy. Science 215: 1525-1530. doi:10.1126/science.7063861. PMID 7063861. ^ Human and Ape Chromosomes; accessed 8 September 2007. ^ Avarello et al 1992. Evidence for an ancestral alphoid domain on the long arm of human chromosome 2. Human Genetics 89: 247-9. doi:10.1007/BF00217134. PMID 1587535. ^ a b IJdo et al 1991. Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proceedings of the National Academy of Sciences 88: 9051-5. doi:10.1073/pnas.88.20.9051. PMID 1924367. v d e Human chromosomes 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · 11 · 12 · 13 · 14 · 15 · 16 · 17 · 18 · 19 · 20 · 21 · 22 · X · Y External Links ColonCancerFamily.com FREE Newsletter: topics include Lynch Syndrome, HNPCC, Genetic Testing and more Retrieved from http://en..org/wiki/Chromosome_2_human Categories: Chromosomes Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Català Deutsch Español Français Italiano Magyar Nederlands ‪Norsk bokmÃ¥l‬ Polski Português СрпÑ?ки / Srpski Türkçe ä¸æ–‡ This page was last modified on 11 August 2008, at 15:32
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