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DNA sequence and analysis of human chromosome 9

2004; Nature Portfolio; Volume: 429; Issue: 6990 Linguagem: Inglês

10.1038/nature02465

1476-4687

Sean Humphray, Karen Oliver, Adrienne Hunt, R. W. Plumb, Jane Loveland, Kevin Howe, T. Daniel Andrews, S. Searle, Sarah Hunt, Carol Scott, Matthew C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, Anne Babbage, S. Babbage, C. L. Bagguley, J. Bailey, Ruby Banerjee, Darren Barker, K. F. Barlow, K. Bates, Helen Beasley, O. Beasley, Christine Bird, S. Bray-Allen, Andrew J. Brown, J. Y. Brown, D. C. Burford, W. Burrill, J.H. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, Geraldine M Clarke, S. Y. Clark, Christopher Clee, S. Clegg, R. E. Collier, N. Corby, Moira Crosier, A. T. Cummings, J. Davies, Pawandeep Dhami, Matt Dunn, Ireena Dutta, Lauren Dyer, M. E. Earthrowl, L. Faulkner, Colin Fleming, Adam Frankish, Julie Frankland, Lisa French, David Fricker, P. Garner, J. Garnett, Jilur Ghori, James Gilbert, C. Glison, Darren Grafham, Susan Gribble, Chris Griffiths, Sam Griffiths‐Jones, Russell Grocock, JH Guy, R. E. Hall, S. Austin Hammond, Joanna Harley, E. S. I. Harrison, Elizabeth A. Hart, P. D. Heath, Caroline Henderson, Barbara Hopkins, P. J. Howard, Philip Howden, Elizabeth J. Huckle, Chénel Johnson, David J. Johnson, A. A. Joy, Mike Kay, Stephen Keenan, J. K. Kershaw, A. M. Kimberley, Andrew King, Andrew Knights, Gavin K. Laird, C. Langford, Stephanie Lawlor, Daniel Leongamornlert, M. Leversha, Christine Lloyd, David Lloyd, J. Lovell, Sancha Martin, M. Mashreghi-Mohammadi, L. Matthews, Stuart McLaren, K. E. McLay, Amanda A. McMurray, Sarah Milne, T. Nickerson, James Nisbett, Gabriele Nordsiek, A. V. Pearce, A. I. Peck, Keith Porter, R. D. Pandian, Sarah Pelan, Benjamin Phillimore, S. Povey, Y. Ramsey, Vikki Rand, Maren Scharfe, Harminder Sehra, R. Shownkeen, Sarah Sims, C. D. Skuce, Michelle Smith, Charles A. Steward, David Swarbreck, Neil Sycamore, J. Tester, A. Thorpe, Alan Tracey, A. Tromans, Duncan W. Thomas, M. Wall, J. M. Wallis, Anthony P. West, Sally Whitehead, David L. Willey, S. A. Williams, Laurens Wilming, P. W. Wray, Lynn Young, Jennifer Ashurst, Alan Coulson, Helmut Blöcker, Richard Durbin, John Sulston, Tim Hubbard, Michael S. Jackson, D. R. Bentley, Stephan Beck, Jane Rogers, Ian Dunham,

Chromosomal and Genetic Variations

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.