The DNA sequence and analysis of human chromosome 6

被引：231

作者：

Mungall, AJ ^{[1
]}

Palmer, SA ^{[1
]}

Sims, SK ^{[1
]}

Edwards, CA ^{[1
]}

Ashurst, JL ^{[1
]}

Wilming, L ^{[1
]}

Jones, MC ^{[1
]}

Horton, R ^{[1
]}

Hunt, SE ^{[1
]}

Scott, CE ^{[1
]}

Gilbert, JGR ^{[1
]}

Clamp, ME ^{[1
]}

Bethel, G ^{[1
]}

Milne, S ^{[1
]}

Ainscough, R ^{[1
]}

Almeida, JP ^{[1
]}

Ambrose, KD ^{[1
]}

Andrews, TD ^{[1
]}

Ashwell, RIS ^{[1
]}

Babbage, AK ^{[1
]}

Bagguley, CL ^{[1
]}

Bailey, J ^{[1
]}

Banerjee, R ^{[1
]}

Barker, DJ ^{[1
]}

Barlow, KF ^{[1
]}

Bates, K ^{[1
]}

Beare, DM ^{[1
]}

Beasley, H ^{[1
]}

Beasley, O ^{[1
]}

Bird, CP ^{[1
]}

Blakey, S ^{[1
]}

Bray-Allen, S ^{[1
]}

Brook, J ^{[1
]}

Brown, AJ ^{[1
]}

Brown, JY ^{[1
]}

Burford, DC ^{[1
]}

Burrill, W ^{[1
]}

Burton, J ^{[1
]}

Carder, C ^{[1
]}

Carter, NP ^{[1
]}

Chapman, JC ^{[1
]}

Clark, SY ^{[1
]}

Clark, G ^{[1
]}

Clee, CM ^{[1
]}

Clegg, S ^{[1
]}

Cobley, V ^{[1
]}

Collier, RE ^{[1
]}

Collins, JE ^{[1
]}

Colman, LK ^{[1
]}

Corby, NR ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

来源：

NATURE | 2003年 / 425卷 / 6960期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/nature02055

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/ genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

引用

页码：805 / U1

页数：8

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