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- PMID: 14574404
- UKPMCID: 14574404
- DOI: 10.1038/nature02055
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The DNA sequence and analysis of human chromosome 6.
Mungall, A J; Palmer, S A; Sims, S K; Edwards, C A; Ashurst, J L; Wilming, L; Jones, M C; Horton, R; Hunt, S E; Scott, C E; Gilbert, J G R; Clamp, M E; Bethel, G; Milne, S; Ainscough, R; Almeida, J P; Ambrose, K D; Andrews, T D; Ashwell, R I S; Babbage, A K; Bagguley, C L; Bailey, J; Banerjee, R; Barker, D J; Barlow, K F; Bates, K; Beare, D M; Beasley, H; Beasley, O; Bird, C P; Blakey, S; Bray-Allen, S; Brook, J; Brown, A J; Brown, J Y; Burford, D C; Burrill, W; Burton, J; Carder, C; Carter, N P; Chapman, J C; Clark, S Y; Clark, G; Clee, C M; Clegg, S; Cobley, V; Collier, R E; Collins, J E; Colman, L K; Corby, N R; Coville, G J; Culley, K M; Dhami, P; Davies, J; Dunn, M; Earthrowl, M E; Ellington, A E; Evans, K A; Faulkner, L; Francis, M D; Frankish, A; Frankland, J; French, L; Garner, P; Garnett, J; Ghori, M J R; Gilby, L M; Gillson, C J; Glithero, R J; Grafham, D V; Grant, M; Gribble, S; Griffiths, C; Griffiths, M; Hall, R; Halls, K S; Hammond, S; Harley, J L; Hart, E A; Heath, P D; Heathcott, R; Holmes, S J; Howden, P J; Howe, K L; Howell, G R; Huckle, E; Humphray, S J; Humphries, M D; Hunt, A R; Johnson, C M; Joy, A A; Kay, M; Keenan, S J; Kimberley, A M; King, A; Laird, G K; Langford, C; Lawlor, S; Leongamornlert, D A; Leversha, M; Lloyd, C R; Lloyd, D M; Loveland, J E; Lovell, J; Martin, S; Mashreghi-Mohammadi, M; Maslen, G L; Matthews, L; McCann, O T; McLaren, S J; McLay, K; McMurray, A; Moore, M J F; Mullikin, J C; Niblett, D; Nickerson, T; Novik, K L; Oliver, K; Overton-Larty, E K; Parker, A; Patel, R; Pearce, A V; Peck, A I; Phillimore, B; Phillips, S; Plumb, R W; Porter, K M; Ramsey, Y; Ranby, S A; Rice, C M; Ross, M T; Searle, S M; Sehra, H K; Sheridan, E; Skuce, C D; Smith, S; Smith, M; Spraggon, L; Squares, S L; Steward, C A; Sycamore, N; Tamlyn-Hall, G; Tester, J; Theaker, A J; Thomas, D W; Thorpe, A; Tracey, A; Tromans, A; Tubby, B; Wall, M; Wallis, J M; West, A P; White, S S; Whitehead, S L; Whittaker, H; Wild, A; Willey, D J; Wilmer, T E; Wood, J M; Wray, P W; Wyatt, J C; Young, L; Younger, R M; Bentley, D R; Coulson, A; Durbin, R; Hubbard, T; Sulston, J E; Dunham, I; Rogers, J; Beck, S
Nature. 2003;425(6960):805-11.
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Full-text held externally
- PMID: 14574404
- UKPMCID: 14574404
- DOI: 10.1038/nature02055
Abstract
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.
Bibliographic metadata
- Mungall, A J
- Palmer, S A
- Sims, S K
- Edwards, C A
- Ashurst, J L
- Wilming, L
- Jones, M C
- Horton, R
- Hunt, S E
- Scott, C E
- Gilbert, J G R
- Clamp, M E
- Bethel, G
- Milne, S
- Ainscough, R
- Almeida, J P
- Ambrose, K D
- Andrews, T D
- Ashwell, R I S
- Babbage, A K
- Bagguley, C L
- Bailey, J
- Banerjee, R
- Barker, D J
- Barlow, K F
- Bates, K
- Beare, D M
- Beasley, H
- Beasley, O
- Bird, C P
- Blakey, S
- Bray-Allen, S
- Brook, J
- Brown, A J
- Brown, J Y
- Burford, D C
- Burrill, W
- Burton, J
- Carder, C
- Carter, N P
- Chapman, J C
- Clark, S Y
- Clark, G
- Clee, C M
- Clegg, S
- Cobley, V
- Collier, R E
- Collins, J E
- Colman, L K
- Corby, N R
- Coville, G J
- Culley, K M
- Dhami, P
- Davies, J
- Dunn, M
- Earthrowl, M E
- Ellington, A E
- Evans, K A
- Faulkner, L
- Francis, M D
- Frankish, A
- Frankland, J
- French, L
- Garner, P
- Garnett, J
- Ghori, M J R
- Gilby, L M
- Gillson, C J
- Glithero, R J
- Grafham, D V
- Grant, M
- Gribble, S
- Griffiths, C
- Griffiths, M
- Hall, R
- Halls, K S
- Hammond, S
- Harley, J L
- Hart, E A
- Heath, P D
- Heathcott, R
- Holmes, S J
- Howden, P J
- Howe, K L
- Howell, G R
- Huckle, E
- Humphray, S J
- Humphries, M D
- Hunt, A R
- Johnson, C M
- Joy, A A
- Kay, M
- Keenan, S J
- Kimberley, A M
- King, A
- Laird, G K
- Langford, C
- Lawlor, S
- Leongamornlert, D A
- Leversha, M
- Lloyd, C R
- Lloyd, D M
- Loveland, J E
- Lovell, J
- Martin, S
- Mashreghi-Mohammadi, M
- Maslen, G L
- Matthews, L
- McCann, O T
- McLaren, S J
- McLay, K
- McMurray, A
- Moore, M J F
- Mullikin, J C
- Niblett, D
- Nickerson, T
- Novik, K L
- Oliver, K
- Overton-Larty, E K
- Parker, A
- Patel, R
- Pearce, A V
- Peck, A I
- Phillimore, B
- Phillips, S
- Plumb, R W
- Porter, K M
- Ramsey, Y
- Ranby, S A
- Rice, C M
- Ross, M T
- Searle, S M
- Sehra, H K
- Sheridan, E
- Skuce, C D
- Smith, S
- Smith, M
- Spraggon, L
- Squares, S L
- Steward, C A
- Sycamore, N
- Tamlyn-Hall, G
- Tester, J
- Theaker, A J
- Thomas, D W
- Thorpe, A
- Tracey, A
- Tromans, A
- Tubby, B
- Wall, M
- Wallis, J M
- West, A P
- White, S S
- Whitehead, S L
- Whittaker, H
- Wild, A
- Willey, D J
- Wilmer, T E
- Wood, J M
- Wray, P W
- Wyatt, J C
- Young, L
- Younger, R M
- Bentley, D R
- Coulson, A
- Durbin, R
- Hubbard, T
- Sulston, J E
- Dunham, I
- Rogers, J
- Beck, S