Article

Nature 441, 315-321 (18 May 2006) | doi:10.1038/nature04727; Received 24 December 2005; Accepted 13 March 2006

There is a Corrigenda (26 October 2006) associated with this document.

The DNA sequence and biological annotation of human chromosome 1

S. G. Gregory1,2, K. F. Barlow1, K. E. McLay1, R. Kaul3, D. Swarbreck1, A. Dunham1, C. E. Scott1, K. L. Howe1, K. Woodfine4, C. C. A. Spencer5, M. C. Jones1, C. Gillson1, S. Searle1, Y. Zhou3, F. Kokocinski1, L. McDonald1, R. Evans1, K. Phillips1, A. Atkinson1, R. Cooper1, C. Jones1, R. E. Hall1, T. D. Andrews1, C. Lloyd1, R. Ainscough1, J. P. Almeida1, K. D. Ambrose1, F. Anderson1, R. W. Andrew1, R. I. S. Ashwell1, K. Aubin1, A. K. Babbage1, C. L. Bagguley1, J. Bailey1, H. Beasley1, G. Bethel1, C. P. Bird1, S. Bray-Allen1, J. Y. Brown1, A. J. Brown1, D. Buckley3, J. Burton1, J. Bye1, C. Carder1, J. C. Chapman1, S. Y. Clark1, G. Clarke1, C. Clee1, V. Cobley1, R. E. Collier1, N. Corby1, G. J. Coville1, J. Davies1, R. Deadman1, M. Dunn1, M. Earthrowl1, A. G. Ellington1, H. Errington1, A. Frankish1, J. Frankland1, L. French1, P. Garner1, J. Garnett1, L. Gay1, M. R. J. Ghori1, R. Gibson1, L. M. Gilby1, W. Gillett3, R. J. Glithero1, D. V. Grafham1, C. Griffiths1, S. Griffiths-Jones1, R. Grocock1, S. Hammond1, E. S. I. Harrison1, E. Hart1, E. Haugen3, P. D. Heath1, S. Holmes1, K. Holt1, P. J. Howden1, A. R. Hunt1, S. E. Hunt1, G. Hunter1, J. Isherwood1, R. James3, C. Johnson1, D. Johnson1, A. Joy1, M. Kay1, J. K. Kershaw1, M. Kibukawa3, A. M. Kimberley1, A. King1, A. J. Knights1, H. Lad1, G. Laird1, S. Lawlor1, D. A. Leongamornlert1, D. M. Lloyd1, J. Loveland1, J. Lovell1, M. J. Lush6, R. Lyne1, S. Martin1, M. Mashreghi-Mohammadi1, L. Matthews1, N. S. W. Matthews1, S. McLaren1, S. Milne1, S. Mistry1, M. J. F. M oore1, T. Nickerson1, C. N. O'Dell1, K. Oliver1, A. Palmeiri3, S. A. Palmer1, A. Parker1, D. Patel1, A. V. Pearce1, A. I. Peck1, S. Pelan1, K. Phelps3, B. J. Phillimore1, R. Plumb1, J. Rajan1, C. Raymond3, G. Rouse3, C. Saenphimmachak3, H. K. Sehra1, E. Sheridan1, R. Shownkeen1, S. Sims1, C. D. Skuce1, M. Smith1, C. Steward1, S. Subramanian3, N. Sycamore1, A. Tracey1, A. Tromans1, Z. Van Helmond1, M. Wall1, J. M. Wallis1, S. White1, S. L. Whitehead1, J. E. Wilkinson1, D. L. Willey1, H. Williams1, L. Wilming1, P. W. Wray1, Z. Wu3, A. Coulson1, M. Vaudin1, J. E. Sulston1, R. Durbin1, T. Hubbard1, R. Wooster1, I. Dunham1, N. P. Carter1, G. McVean4, M. T. Ross1, J. Harrow1, M. V. Olson3, S. Beck1, J. Rogers1 and D. R. Bentley1,7

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

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  1. The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
  2. The Duke University Center for Human Genetics, Durham, North Carolina 27708, USA
  3. Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195, USA
  4. King's College London, Department of Medical and Molecular Genetics, Guy's Tower, London SE1 9RT, UK
  5. Department of Statistics, University of Oxford, Oxford OX1 3TG, UK
  6. HUGO Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, London NW1 2HE, UK
  7. Solexa Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK

Correspondence to: S. G. Gregory1,2 Correspondence and requests for materials should be addressed to S.G. (Email: sgregory@chg.duhs.duke.edu). The updated human chromosome 1 sequence can be accessed through GenBank accession number NC_000001.

Received 24 December 2005 | Accepted 13 March 2006

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