The DNA sequence and analysis of human chromosome 13

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

user-5f8cf9244c775ec6fa691c99（2004）

引用 135|浏览10

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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.

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Chromosome 21,Chromosome 19,Chromosome 22,Chromosome 16,Chromosome 13,Chromosome 3,Chromosome 15,Chromosome 17 (human),Genetics,Biology

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