Nature 2003-10-23

The DNA sequence and analysis of human chromosome 6.

A J Mungall, S A Palmer, S K Sims, C A Edwards, J L Ashurst, L Wilming, M C Jones, R Horton, S E Hunt, C E Scott, J G R Gilbert, M E Clamp, G Bethel, S Milne, R Ainscough, J P Almeida, K D Ambrose, T D Andrews, R I S Ashwell, A K Babbage, C L Bagguley, J Bailey, R Banerjee, D J Barker, K F Barlow, K Bates, D M Beare, H Beasley, O Beasley, C P Bird, S Blakey, S Bray-Allen, J Brook, A J Brown, J Y Brown, D C Burford, W Burrill, J Burton, C Carder, N P Carter, J C Chapman, S Y Clark, G Clark, C M Clee, S Clegg, V Cobley, R E Collier, J E Collins, L K Colman, N R Corby, G J Coville, K M Culley, P Dhami, J Davies, M Dunn, M E Earthrowl, A E Ellington, K A Evans, L Faulkner, M D Francis, A Frankish, J Frankland, L French, P Garner, J Garnett, M J R Ghori, L M Gilby, C J Gillson, R J Glithero, D V Grafham, M Grant, S Gribble, C Griffiths, M Griffiths, R Hall, K S Halls, S Hammond, J L Harley, E A Hart, P D Heath, R Heathcott, S J Holmes, P J Howden, K L Howe, G R Howell, E Huckle, S J Humphray, M D Humphries, A R Hunt, C M Johnson, A A Joy, M Kay, S J Keenan, A M Kimberley, A King, G K Laird, C Langford, S Lawlor, D A Leongamornlert, M Leversha, C R Lloyd, D M Lloyd, J E Loveland, J Lovell, S Martin, M Mashreghi-Mohammadi, G L Maslen, L Matthews, O T McCann, S J McLaren, K McLay, A McMurray, M J F Moore, J C Mullikin, D Niblett, T Nickerson, K L Novik, K Oliver, E K Overton-Larty, A Parker, R Patel, A V Pearce, A I Peck, B Phillimore, S Phillips, R W Plumb, K M Porter, Y Ramsey, S A Ranby, C M Rice, M T Ross, S M Searle, H K Sehra, E Sheridan, C D Skuce, S Smith, M Smith, L Spraggon, S L Squares, C A Steward, N Sycamore, G Tamlyn-Hall, J Tester, A J Theaker, D W Thomas, A Thorpe, A Tracey, A Tromans, B Tubby, M Wall, J M Wallis, A P West, S S White, S L Whitehead, H Whittaker, A Wild, D J Willey, T E Wilmer, J M Wood, P W Wray, J C Wyatt, L Young, R M Younger, D R Bentley, A Coulson, R Durbin, T Hubbard, J E Sulston, I Dunham, J Rogers, S Beck

文献索引：Nature 425(6960) , 805-11, (2003)

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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.