DNA sequence and analysis of human chromosome 8.

Article Details


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.

PubMed ID
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

NameUniProt ID
DNA topoisomerase I, mitochondrialQ969P6Details
Mitochondrial peptide methionine sulfoxide reductaseQ9UJ68Details
Aspartyl/asparaginyl beta-hydroxylaseQ12797Details
Cationic amino acid transporter 2P52569Details
Squalene monooxygenaseQ14534Details
Kappa-type opioid receptorP41145Details
Glutathione reductase, mitochondrialP00390Details
Indoleamine 2,3-dioxygenase 1P14902Details
High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7AQ13946Details
Cytochrome P450 11B1, mitochondrialP15538Details
Neuronal acetylcholine receptor subunit alpha-2Q15822Details
Protein-tyrosine kinase 2-betaQ14289Details
Bifunctional epoxide hydrolase 2P34913Details
Phosphatidylserine synthase 1P48651Details
Transient receptor potential cation channel subfamily A member 1O75762Details
Inositol monophosphatase 1P29218Details
Inhibitor of nuclear factor kappa-B kinase subunit betaO14920Details
Fibroblast growth factor receptor 1P11362Details
Phosphatidylserine synthase 2Q9BVG9Details
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alphaP49354Details
Potassium voltage-gated channel subfamily KQT member 3O43525Details
Squalene synthaseP37268Details
Focal adhesion kinase 1Q05397Details
2,4-dienoyl-CoA reductase, mitochondrialQ16698Details
Hepatocyte nuclear factor 4-gammaQ14541Details
Tumor necrosis factor receptor superfamily member 10BO14763Details
Prostate stem cell antigenO43653Details
Heat shock factor protein 1Q00613Details
Neuronal acetylcholine receptor subunit alpha-6Q15825Details
Arylamine N-acetyltransferase 2P11245Details
Ribonucleoside-diphosphate reductase subunit M2 BQ7LG56Details
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoformP63151Details
Cytochrome c1, heme protein, mitochondrialP08574Details
Cytochrome b-c1 complex subunit 7P14927Details
Disintegrin and metalloproteinase domain-containing protein 28Q9UKQ2Details
Lymphocyte antigen 96Q9Y6Y9Details
Myelin P2 proteinP02689Details
Pyrroline-5-carboxylate reductase 3Q53H96Details
Chromaffin granule amine transporterP54219Details
Myc proto-oncogene proteinP01106Details
Solute carrier family 52, riboflavin transporter, member 2Q9HAB3Details
Dihydropyrimidinase-related protein 2Q16555Details
Endonuclease 8-like 2Q969S2Details
Serine/threonine-protein kinase 3Q13188Details
Receptor-interacting serine/threonine-protein kinase 2O43353Details
Zinc transporter ZIP4Q6P5W5Details
Zinc transporter 8Q8IWU4Details
Zinc transporter ZIP14Q15043Details
Dendritic cell-specific transmembrane proteinQ9H295Details