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The DNA sequence and analysis of human chromosome 13

2004; Nature Portfolio; Volume: 428; Issue: 6982 Linguagem: Inglês

10.1038/nature02379

1476-4687

Andrew Dunham, Lucy Matthews, J.H. Burton, Jennifer Ashurst, Kevin Howe, Kevin J. Ashcroft, David Beare, D. C. Burford, Sarah Hunt, Sam Griffiths‐Jones, Matthew C. Jones, Stephen Keenan, Karen Oliver, Carol Scott, R. Ainscough, J. P. Almeida, K. D. Ambrose, Dan Andrews, R. I. S. Ashwell, Anne Babbage, C. L. Bagguley, J. Bailey, R. Bannerjee, K. F. Barlow, K. Bates, Helen Beasley, Christine Bird, S. Bray-Allen, Andrew J. Brown, J. Y. Brown, W. Burrill, C. Carder, N. P. Carter, J. C. Chapman, M. Clamp, S. Y. Clark, Geraldine M Clarke, Chris M. Clee, S. Clegg, V. Cobley, J. E. Collins, N. Corby, G. J. Coville, Panos Deloukas, Pawandeep Dhami, Ian Dunham, Matthew Dunn, M. E. Earthrowl, Andrew Ellington, L. Faulkner, Adam Frankish, J. D. Frankland, Lisa French, P. Garner, J. Garnett, James Gilbert, C. J. Gilson, Jilur Ghori, Darren Grafham, Susan Gribble, Chris Griffiths, R. E. Hall, S. Austin Hammond, Joanna Harley, Elizabeth A. Hart, P. D. Heath, Philip Howden, Elizabeth J. Huckle, Patrick J. Hunt, Adrienne Hunt, Christopher M. Johnson, David J. Johnson, Mike Kay, A. M. Kimberley, Andrew King, Gavin K. Laird, C. Langford, Stephanie Lawlor, Daniel Leongamornlert, David Lloyd, Christine Lloyd, Jane Loveland, J. Lovell, Sancha Martin, M. Mashreghi-Mohammadi, Stuart McLaren, Amanda A. McMurray, Sarah Milne, Melissa J. Moore, T. Nickerson, Sophie Palmer, A. V. Pearce, A. I. Peck, Sarah Pelan, Benjamin Phillimore, Keith Porter, Catherine M. Rice, S. Searle, Harminder Sehra, R. Shownkeen, C. D. Skuce, Michelle Smith, Charles A. Steward, Neil Sycamore, J. Tester, Duncan W. Thomas, Alan Tracey, A. Tromans, Ben Tubby, M. Wall, J. M. Wallis, Anthony P. West, Siobhan Whitehead, David L. Willey, Laurens Wilming, P. W. Wray, Matt W. Wright, Lynn Young, Alan Coulson, Richard Durbin, Tim Hubbard, John Sulston, Stephan Beck, D. R. Bentley, Jane Rogers, M. T. Ross,

Genetics and Neurodevelopmental Disorders

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.