The DNA sequence and biological annotation of human chromosome 1.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Gregory, SG; Barlow, KF; McLay, KE; Kaul, R; Swarbreck, D; Dunham, A; Scott, CE; Howe, KL; Woodfine, K; Spencer, CCA; Jones, MC; Gillson, C; Searle, S; Zhou, Y; Kokocinski, F; McDonald, L; Evans, R; Phillips, K; Atkinson, A; Cooper, R; Jones, C; Hall, RE; Andrews, TD; Lloyd, C; Ainscough, R; Almeida, JP; Ambrose, KD; Anderson, F; Andrew, RW; Ashwell, RIS; Aubin, K; Babbage, AK; Bagguley, CL; Bailey, J; Beasley, H; Bethel, G; Bird, CP; Bray-Allen, S; Brown, JY; Brown, AJ; Buckley, D; Burton, J; Bye, J; Carder, C; Chapman, JC; Clark, SY; Clarke, G; Clee, C; Cobley, V; Collier, RE; Corby, N; Coville, GJ; Davies, J; Deadman, R; Dunn, M; Earthrowl, M; Ellington, AG; Errington, H; Frankish, A; Frankland, J; French, L; Garner, P; Garnett, J; Gay, L; Ghori, MRJ; Gibson, R; Gilby, LM; Gillett, W; Glithero, RJ; Grafham, DV; Griffiths, C; Griffiths-Jones, S; Grocock, R; Hammond, S; Harrison, ESI; Hart, E; Haugen, E; Heath, PD; Holmes, S; Holt, K; Howden, PJ; Hunt, AR; Hunt, SE; Hunter, G; Isherwood, J; James, R; Johnson, C; Johnson, D; Joy, A; Kay, M; Kershaw, JK; Kibukawa, M; Kimberley, AM; King, A; Knights, AJ; Lad, H; Laird, G; Lawlor, S; Leongamornlert, DA; Lloyd, DM; Loveland, J; Lovell, J; Lush, MJ; Lyne, R; Martin, S; Mashreghi-Mohammadi, M; Matthews, L; Matthews, NSW; McLaren, S; Milne, S; Mistry, S; Moore, MJF; Nickerson, T; O'Dell, CN; Oliver, K; Palmeiri, A; Palmer, SA; Parker, A; Patel, D; Pearce, AV; Peck, AI; Pelan, S; Phelps, K; Phillimore, BJ; Plumb, R; Rajan, J; Raymond, C; Rouse, G; Saenphimmachak, C; Sehra, HK; Sheridan, E; Shownkeen, R; Sims, S; Skuce, CD; Smith, M; Steward, C; Subramanian, S; Sycamore, N; Tracey, A; Tromans, A; Van Helmond, Z; Wall, M; Wallis, JM; White, S; Whitehead, SL; Wilkinson, JE; Willey, DL; Williams, H; Wilming, L; Wray, PW; Wu, Z; Coulson, A; Vaudin, M; Sulston, JE; Durbin, R; Hubbard, T; Wooster, R; Dunham, I; Carter, NP; McVean, G; Ross, MT; Harrow, J; Olson, MV; Beck, S; Rogers, J; Bentley, DR; Banerjee, R; Bryant, SP; Burford, DC; Burrill, WDH; Clegg, SM; Dhami, P; Dovey, O; Faulkner, LM; Gribble, SM; Langford, CF; Pandian, RD; Porter, KM; Prigmore, E

Published Date

  • May 18, 2006

Published In

Volume / Issue

  • 441 / 7091

Start / End Page

  • 315 - 321

PubMed ID

  • 16710414

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

Digital Object Identifier (DOI)

  • 10.1038/nature04727


  • eng

Conference Location

  • England