DNA sequence and analysis of human chromosome 8.
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Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES
DNA sequence and analysis of human chromosome 8.
Nature. 2006 Jan 19;439(7074):331-5.
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- 16421571 [ View in PubMed]
The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.
DrugBank Data that Cites this Article
Name UniProt ID DNA topoisomerase I, mitochondrial Q969P6 Details Mitochondrial peptide methionine sulfoxide reductase Q9UJ68 Details Aspartyl/asparaginyl beta-hydroxylase Q12797 Details Cationic amino acid transporter 2 P52569 Details Squalene monooxygenase Q14534 Details Kappa-type opioid receptor P41145 Details Glutathione reductase, mitochondrial P00390 Details Indoleamine 2,3-dioxygenase 1 P14902 Details High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A Q13946 Details Cytochrome P450 11B1, mitochondrial P15538 Details Neuronal acetylcholine receptor subunit alpha-2 Q15822 Details Protein-tyrosine kinase 2-beta Q14289 Details Bifunctional epoxide hydrolase 2 P34913 Details Phosphatidylserine synthase 1 P48651 Details Transient receptor potential cation channel subfamily A member 1 O75762 Details Inositol monophosphatase 1 P29218 Details Inhibitor of nuclear factor kappa-B kinase subunit beta O14920 Details Fibroblast growth factor receptor 1 P11362 Details Phosphatidylserine synthase 2 Q9BVG9 Details Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha P49354 Details Potassium voltage-gated channel subfamily KQT member 3 O43525 Details Squalene synthase P37268 Details Focal adhesion kinase 1 Q05397 Details 2,4-dienoyl-CoA reductase, mitochondrial Q16698 Details Hepatocyte nuclear factor 4-gamma Q14541 Details Tumor necrosis factor receptor superfamily member 10B O14763 Details Prostate stem cell antigen O43653 Details Heat shock factor protein 1 Q00613 Details Neuronal acetylcholine receptor subunit alpha-6 Q15825 Details Arylamine N-acetyltransferase 2 P11245 Details Ribonucleoside-diphosphate reductase subunit M2 B Q7LG56 Details Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform P63151 Details Cytochrome c1, heme protein, mitochondrial P08574 Details Cytochrome b-c1 complex subunit 7 P14927 Details Disintegrin and metalloproteinase domain-containing protein 28 Q9UKQ2 Details Stathmin-4 Q9H169 Details Lymphocyte antigen 96 Q9Y6Y9 Details Myelin P2 protein P02689 Details Pyrroline-5-carboxylate reductase 3 Q53H96 Details Chromaffin granule amine transporter P54219 Details Myc proto-oncogene protein P01106 Details Solute carrier family 52, riboflavin transporter, member 2 Q9HAB3 Details Dihydropyrimidinase-related protein 2 Q16555 Details Endonuclease 8-like 2 Q969S2 Details Calbindin P05937 Details Clusterin P10909 Details Serine/threonine-protein kinase 3 Q13188 Details Receptor-interacting serine/threonine-protein kinase 2 O43353 Details Thyroglobulin P01266 Details Zinc transporter ZIP4 Q6P5W5 Details Zinc transporter 8 Q8IWU4 Details Zinc transporter ZIP14 Q15043 Details Angiopoietin-2 O15123 Details Dendritic cell-specific transmembrane protein Q9H295 Details