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Oliver, K; Hunt, A. R; Loveland, J. E; Howe, K. L; Searle, S; Hunt, S. E; Scott, C. E; Ainscough, R; Almeida, J. P; Ambrose, K. D; Ashwell, R. I. S; Babbage, A. K; Babbage, S; Bagguley, C. L; Barker, D. J; Barlow, K. F; Bates, K; Beasley, H; Bird, C. P; Bray-Allen, S; Burford, D; Burrill, W; Burton, J; Carder, C; Carter, N. P; Chapman, J. C; Clarke, G; Clark, S. Y; Clee, C. M; Corby, N; Crosier, M; Davies, J; Dhami, P; Dutta, I; Dyer, L. W; Earthrowl, M. E; Faulkner, L; Fleming, C. J; Frankish, A; Frankland, J. A; French, L; Garnett, J; Glison, C; Gribble, S; Griffiths, C; Grocock, R; Guy, J; Hall, R. E; Hammond, S; Harley, J. L; Hart, E. A; Heath, P. D; Henderson, C. D; Hopkins, B. L; Howard, P. J; Huckle, E; Kay, M; Kershaw, J. K; King, A; Knights, A; Langford, C; Leongamornlert, D. A; Leversha, M; Lloyd, D. M; Lovell, J; Martin, S; Mashreghi-Mohammadi, M; Matthews, L; McLaren, S; McLay, K. E; Nisbett, J; Nordsiek, G; Peck, A. I; Porter, K. M; Pandian, R; Pelan, S; Phillimore, B; Sehra, H. K; Skuce, C. D; Smith, M; Steward, C. A; Swarbreck, D; Sycamore, N; Thorpe, A; Tracey, A; Wall, M; Wallis, J. M; West, A. P; Whitehead, S. L; Williams, S. A; Wilming, L; Wray, P. W; Ashurst, J. L; Durbin, R; Sulston, J. E; Jackson, M. J; Bentley, D. R; Beck, S; Rogers, J; Dunham, I
Nature, 05/2004, Letnik: 429, Številka: 6990Journal Article
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.
