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- Title
DNA sequence and analysis of human chromosome 9.
- Authors
Humphray, S J; Oliver, K; Hunt, A R; Plumb, R W; Loveland, J E; Howe, K L; Andrews, T D; Searle, S; Hunt, S E; Scott, C E; Jones, M C; Ainscough, R; Almeida, J P; Ambrose, K D; Ashwell, R I S; Babbage, A K; Babbage, S; Bagguley, C L; Bailey, J; Banerjee, R; Barker, D J; Barlow, K F; Bates, K; Beasley, H; Beasley, O; Bird, C P; Bray-Allen, S; Brown, A J; Brown, J Y; Burford, D; Burrill, W; Burton, J; Carder, C; Carter, N P; Chapman, J C; Chen, Y; Clarke, G; Clark, S Y; Clee, C M; Clegg, S; Collier, R E; Corby, N; Crosier, M; Cummings, A T; Davies, J; Dhami, P; Dunn, M; Dutta, I; Dyer, L W; Earthrowl, M E; Faulkner, L; Fleming, C J; Frankish, A; Frankland, J A; French, L; Fricker, D G; Garner, P; Garnett, J; Ghori, J; Gilbert, J G R; Glison, C; Grafham, D V; Gribble, S; Griffiths, C; Griffiths-Jones, S; Grocock, R; Guy, J; Hall, R E; Hammond, S; Harley, J L; Harrison, E S I; Hart, E A; Heath, P D; Henderson, C D; Hopkins, B L; Howard, P J; Howden, P J; Huckle, E; Johnson, C; Johnson, D; Joy, A A; Kay, M; Keenan, S; Kershaw, J K; Kimberley, A M; King, A; Knights, A; Laird, G K; Langford, C; Lawlor, S; Leongamornlert, D A; Leversha, M; Lloyd, C; Lloyd, D M; Lovell, J; Martin, S; Mashreghi-Mohammadi, M; Matthews, L; McLaren, S; McLay, K E; McMurray, A; Milne, S; Nickerson, T; Nisbett, J; Nordsiek, G; Pearce, A V; Peck, A I; Porter, K M; Pandian, R; Pelan, S; Phillimore, B; Povey, S; Ramsey, Y; Rand, V; Scharfe, M; Sehra, H K; Shownkeen, R; Sims, S K; Skuce, C D; Smith, M; Steward, C A; Swarbreck, D; Sycamore, N; Tester, J; Thorpe, A; Tracey, A; Tromans, A; Thomas, D W; Wall, M; Wallis, J M; West, A P; Whitehead, S L; Willey, D L; Williams, S A; Wilming, L; Wray, P W; Young, L; Ashurst, J L; Coulson, A; Blöcker, H; Durbin, R; Sulston, J E; Hubbard, T; Jackson, M J; Bentley, D R; Beck, S; Rogers, J; Dunham, I
- Abstract
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
- Publication
Nature, 2004, Vol 429, Issue 6990, p369
- ISSN
1476-4687
- Publication type
Journal Article
- DOI
10.1038/nature02465