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The DNA sequence and biological annotation of human chromosome 1

Author

Listed:
  • S. G. Gregory

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus
    The Duke University Center for Human Genetics)

  • K. F. Barlow

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. E. McLay

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Kaul

    (University of Washington School of Medicine)

  • D. Swarbreck

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Dunham

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. E. Scott

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. L. Howe

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Woodfine

    (King's College London)

  • C. C. A. Spencer

    (University of Oxford)

  • M. C. Jones

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Gillson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Searle

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • Y. Zhou

    (University of Washington School of Medicine)

  • F. Kokocinski

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. McDonald

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Evans

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Phillips

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Atkinson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Cooper

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Jones

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. E. Hall

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • T. D. Andrews

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Lloyd

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Ainscough

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. P. Almeida

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. D. Ambrose

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • F. Anderson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. W. Andrew

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. I. S. Ashwell

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Aubin

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. K. Babbage

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. L. Bagguley

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Bailey

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • H. Beasley

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. Bethel

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. P. Bird

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Bray-Allen

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Y. Brown

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. J. Brown

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. Buckley

    (University of Washington School of Medicine)

  • J. Burton

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Bye

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Carder

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. C. Chapman

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Y. Clark

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. Clarke

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Clee

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • V. Cobley

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. E. Collier

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • N. Corby

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. J. Coville

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Davies

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Deadman

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Dunn

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Earthrowl

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. G. Ellington

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • H. Errington

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Frankish

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Frankland

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. French

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • P. Garner

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Garnett

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. Gay

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. R. J. Ghori

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Gibson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. M. Gilby

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • W. Gillett

    (University of Washington School of Medicine)

  • R. J. Glithero

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. V. Grafham

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Griffiths

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Griffiths-Jones

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Grocock

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Hammond

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • E. S. I. Harrison

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • E. Hart

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • E. Haugen

    (University of Washington School of Medicine)

  • P. D. Heath

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Holmes

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Holt

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • P. J. Howden

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. R. Hunt

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. E. Hunt

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. Hunter

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Isherwood

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. James

    (University of Washington School of Medicine)

  • C. Johnson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. Johnson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Joy

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Kay

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. K. Kershaw

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Kibukawa

    (University of Washington School of Medicine)

  • A. M. Kimberley

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. King

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. J. Knights

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • H. Lad

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. Laird

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Lawlor

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. A. Leongamornlert

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. M. Lloyd

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Loveland

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Lovell

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. J. Lush

    (University College London)

  • R. Lyne

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Martin

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Mashreghi-Mohammadi

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. Matthews

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • N. S. W. Matthews

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. McLaren

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Milne

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Mistry

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. J. F. M oore

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • T. Nickerson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. N. O'Dell

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Oliver

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Palmeiri

    (University of Washington School of Medicine)

  • S. A. Palmer

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Parker

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. Patel

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. V. Pearce

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. I. Peck

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Pelan

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • K. Phelps

    (University of Washington School of Medicine)

  • B. J. Phillimore

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Plumb

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Rajan

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Raymond

    (University of Washington School of Medicine)

  • G. Rouse

    (University of Washington School of Medicine)

  • C. Saenphimmachak

    (University of Washington School of Medicine)

  • H. K. Sehra

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • E. Sheridan

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Shownkeen

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Sims

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. D. Skuce

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Smith

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • C. Steward

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. Subramanian

    (University of Washington School of Medicine)

  • N. Sycamore

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Tracey

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • A. Tromans

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • Z. Van Helmond

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Wall

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. M. Wallis

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. White

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • S. L. Whitehead

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. E. Wilkinson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. L. Willey

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • H. Williams

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • L. Wilming

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • P. W. Wray

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • Z. Wu

    (University of Washington School of Medicine)

  • A. Coulson

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. Vaudin

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. E. Sulston

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Durbin

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • T. Hubbard

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • R. Wooster

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • I. Dunham

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • N. P. Carter

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • G. McVean

    (King's College London)

  • M. T. Ross

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Harrow

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • M. V. Olson

    (University of Washington School of Medicine)

  • S. Beck

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • J. Rogers

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus)

  • D. R. Bentley

    (The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus
    Solexa Ltd, Chesterford Research Park, Little Chesterford)

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.

Suggested Citation

  • 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. Kokoci, 2006. "The DNA sequence and biological annotation of human chromosome 1," Nature, Nature, vol. 441(7091), pages 315-321, May.
    • Handle: RePEc:nat:nature:v:441:y:2006:i:7091:d:10.1038_nature04727
    DOI: 10.1038/nature04727
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