The DNA sequence and biological annotation of human chromosome 1 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2006-05

AUTHORS

S G Gregory, K F Barlow, K E McLay, R Kaul, D Swarbreck, A Dunham, C E Scott, K L Howe, K Woodfine, C C A Spencer, M C Jones, C Gillson, S Searle, Y Zhou, F Kokocinski, L McDonald, R Evans, K Phillips, A Atkinson, R Cooper, C Jones, R E Hall, T D Andrews, C Lloyd, R Ainscough, J P Almeida, K D Ambrose, F Anderson, R W Andrew, R I S Ashwell, K Aubin, A K Babbage, C L Bagguley, J Bailey, H Beasley, G Bethel, C P Bird, S Bray-Allen, J Y Brown, A J Brown, D Buckley, J Burton, J Bye, C Carder, J C Chapman, S Y Clark, G Clarke, C Clee, V Cobley, R E Collier, N Corby, G J Coville, J Davies, R Deadman, M Dunn, M Earthrowl, A G Ellington, H Errington, A Frankish, J Frankland, L French, P Garner, J Garnett, L Gay, M R J Ghori, R Gibson, L M Gilby, W Gillett, R J Glithero, D V Grafham, C Griffiths, S Griffiths-Jones, R Grocock, S Hammond, E S I Harrison, E Hart, E Haugen, P D Heath, S Holmes, K Holt, P J Howden, A R Hunt, S E Hunt, G Hunter, J Isherwood, R James, C Johnson, D Johnson, A Joy, M Kay, J K Kershaw, M Kibukawa, A M Kimberley, A King, A J Knights, H Lad, G Laird, S Lawlor, D A Leongamornlert, D M Lloyd, J Loveland, J Lovell, M J Lush, R Lyne, S Martin, M Mashreghi-Mohammadi, L Matthews, N S W Matthews, S McLaren, S Milne, S Mistry, M J F Moore, T Nickerson, C N O'Dell, K Oliver, A Palmeiri, S A Palmer, A Parker, D Patel, A V Pearce, A I Peck, S Pelan, K Phelps, B J Phillimore, R Plumb, J Rajan, C Raymond, G Rouse, C Saenphimmachak, H K Sehra, E Sheridan, R Shownkeen, S Sims, C D Skuce, M Smith, C Steward, S Subramanian, N Sycamore, A Tracey, A Tromans, Z Van Helmond, M Wall, J M Wallis, S White, S L Whitehead, J E Wilkinson, D L Willey, H Williams, L Wilming, P W Wray, Z Wu, A Coulson, M Vaudin, J E Sulston, R Durbin, T Hubbard, R Wooster, I Dunham, N P Carter, G McVean, M T Ross, J Harrow, M V Olson, S Beck, J Rogers, D R Bentley, R Banerjee, S P Bryant, D C Burford, W D H Burrill, S M Clegg, P Dhami, O Dovey, L M Faulkner, S M Gribble, C F Langford, R D Pandian, K M Porter, E Prigmore

ABSTRACT

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. More... »

PAGES

315

References to SciGraph publications

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  • Journal

    TITLE

    Nature

    ISSUE

    7091

    VOLUME

    441

    Author Affiliations

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature04727

    DOI

    http://dx.doi.org/10.1038/nature04727

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1015114434

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/16710414


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