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  • The DNA sequence and analys...
    Mungall, A. J; Beck, S; Palmer, S. A; Edwards, C. A; Jones, M. C; Horton, R; Scott, C. E; Clamp, M. E; Milne, S; Almeida, J. P; Babbage, A. K; Bagguley, C. L; Bailey, J; Banerjee, R; Barker, D. J; Barlow, K. F; Beasley, H; Beasley, O; Bird, C. P; Blakey, S; Bray-Allen, S; Brown, A. J; Brown, J. Y; Burton, J; Chapman, J. C; Clark, S. Y; Clark, G; Clee, C. M; Clegg, S; Collier, R. E; Collins, J. E; Corby, N. R; Coville, G. J; Earthrowl, M. E; Ellington, A. E; Evans, K. A; Francis, M. D; Garner, P; Garnett, J; Gillson, C. J; Grafham, D. V; Grant, M; Gribble, S; Griffiths, C; Hall, R; Halls, K. S; Heathcott, R; Howden, P. J; Howell, G. R; Huckle, E; Humphray, S. J; Humphries, M. D; Hunt, A. R; Johnson, C. M; Joy, A. A; Kay, M; Kimberley, A. M; Laird, G. K; Lawlor, S; Leongamornlert, D. A; Lloyd, C. R; Lovell, J; Mashreghi-Mohammadi, M; Maslen, G. L; McCann, O. T; McLaren, S. J; McLay, K; McMurray, A; Novik, K. L; Overton-Larty, E. K; Parker, A; Patel, R; Phillimore, B; Phillips, S; Plumb, R. W; Ranby, S. A; Rice, C. M; Sheridan, E; Skuce, C. D; Smith, S; Spraggon, L; Squares, S. L; Tamlyn-Hall, G; Tester, J; Thorpe, A; Tromans, A; Wallis, J. M; West, A. P; White, S. S; Whitehead, S. L; Whittaker, H; Wild, A; Wilmer, T. E; Wood, J. M; Wray, P. W; Younger, R. M; Coulson, A; Hubbard, T; Sulston, J. E; Rogers, J

    Nature, 10/2003, Letnik: 425, Številka: 6960
    Journal Article

    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.