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The DNA sequence and analysis of human chromosome 6

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  • A. J. Mungall

    (The Wellcome Trust Sanger Institute)

  • S. A. Palmer

    (The Wellcome Trust Sanger Institute)

  • S. K. Sims

    (The Wellcome Trust Sanger Institute)

  • C. A. Edwards

    (The Wellcome Trust Sanger Institute)

  • J. L. Ashurst

    (The Wellcome Trust Sanger Institute)

  • L. Wilming

    (The Wellcome Trust Sanger Institute)

  • M. C. Jones

    (The Wellcome Trust Sanger Institute)

  • R. Horton

    (The Wellcome Trust Sanger Institute)

  • S. E. Hunt

    (The Wellcome Trust Sanger Institute)

  • C. E. Scott

    (The Wellcome Trust Sanger Institute)

  • J. G. R. Gilbert

    (The Wellcome Trust Sanger Institute)

  • M. E. Clamp

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  • G. Bethel

    (The Wellcome Trust Sanger Institute)

  • S. Milne

    (The Wellcome Trust Sanger Institute)

  • R. Ainscough

    (The Wellcome Trust Sanger Institute)

  • J. P. Almeida

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  • K. D. Ambrose

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  • T. D. Andrews

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  • R. I. S. Ashwell

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  • R. Banerjee

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  • D. J. Barker

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  • K. F. Barlow

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  • K. Bates

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  • D. M. Beare

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  • H. Beasley

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  • O. Beasley

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  • W. Burrill

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  • C. Carder

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  • N. P. Carter

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  • J. C. Chapman

    (The Wellcome Trust Sanger Institute)

  • S. Y. Clark

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  • G. Clark

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  • C. M. Clee

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  • P. Dhami

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  • C. Griffiths

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  • M. Griffiths

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  • R. Hall

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  • K. S. Halls

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  • S. Hammond

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  • J. L. Harley

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  • E. A. Hart

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  • P. D. Heath

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  • R. Heathcott

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  • K. L. Howe

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  • G. R. Howell

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  • E. Huckle

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  • S. J. Humphray

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  • M. D. Humphries

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  • A. R. Hunt

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  • C. M. Johnson

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  • A. A. Joy

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  • M. Kay

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  • S. J. Keenan

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  • A. M. Kimberley

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  • A. King

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  • G. K. Laird

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  • C. Langford

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  • S. Lawlor

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  • D. A. Leongamornlert

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  • M. Leversha

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  • C. R. Lloyd

    (The Wellcome Trust Sanger Institute)

  • D. M. Lloyd

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  • J. E. Loveland

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  • J. Lovell

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  • S. Martin

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  • M. Mashreghi-Mohammadi

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  • G. L. Maslen

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  • L. Matthews

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  • O. T. McCann

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  • K. McLay

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  • A. McMurray

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  • M. J. F. Moore

    (The Wellcome Trust Sanger Institute)

  • J. C. Mullikin

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  • D. Niblett

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  • T. Nickerson

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  • K. L. Novik

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  • E. K. Overton-Larty

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  • A. V. Pearce

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  • A. I. Peck

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  • B. Phillimore

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  • S. Phillips

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  • R. W. Plumb

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  • K. M. Porter

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  • Y. Ramsey

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  • S. A. Ranby

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  • M. T. Ross

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  • A. Tracey

    (The Wellcome Trust Sanger Institute)

  • A. Tromans

    (The Wellcome Trust Sanger Institute)

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    (The Wellcome Trust Sanger Institute)

  • M. Wall

    (The Wellcome Trust Sanger Institute)

  • J. M. Wallis

    (The Wellcome Trust Sanger Institute)

  • A. P. West

    (The Wellcome Trust Sanger Institute)

  • S. S. White

    (The Wellcome Trust Sanger Institute)

  • S. L. Whitehead

    (The Wellcome Trust Sanger Institute)

  • H. Whittaker

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  • A. Wild

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  • R. M. Younger

    (The Wellcome Trust Sanger Institute)

  • D. R. Bentley

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  • A. Coulson

    (The Wellcome Trust Sanger Institute)

  • R. Durbin

    (The Wellcome Trust Sanger Institute)

  • T. Hubbard

    (The Wellcome Trust Sanger Institute)

  • J. E. Sulston

    (The Wellcome Trust Sanger Institute)

  • I. Dunham

    (The Wellcome Trust Sanger Institute)

  • J. Rogers

    (The Wellcome Trust Sanger Institute)

  • S. Beck

    (The Wellcome Trust Sanger Institute)

Abstract

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

Suggested Citation

  • A. J. Mungall & S. A. Palmer & S. K. Sims & C. A. Edwards & J. L. Ashurst & L. Wilming & M. C. Jones & R. Horton & S. E. Hunt & C. E. Scott & J. G. R. Gilbert & M. E. Clamp & G. Bethel & S. Milne & R., 2003. "The DNA sequence and analysis of human chromosome 6," Nature, Nature, vol. 425(6960), pages 805-811, October.
    • Handle: RePEc:nat:nature:v:425:y:2003:i:6960:d:10.1038_nature02055
    DOI: 10.1038/nature02055
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    Cited by:

    1. Milad Mokhtaridoost & Jordan J. Chalmers & Marzieh Soleimanpoor & Brandon J. McMurray & Daniella F. Lato & Son C. Nguyen & Viktoria Musienko & Joshua O. Nash & Sergio Espeso-Gil & Sameen Ahmed & Kate , 2024. "Inter-chromosomal contacts demarcate genome topology along a spatial gradient," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    2. Sagar Gupta & Santrupti Nerli & Sreeja Kutti Kandy & Glenn L. Mersky & Nikolaos G. Sgourakis, 2023. "HLA3DB: comprehensive annotation of peptide/HLA complexes enables blind structure prediction of T cell epitopes," Nature Communications, Nature, vol. 14(1), pages 1-13, December.

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