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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

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  • M. C. Jones

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  • R. Horton

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  • S. E. Hunt

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  • C. E. Scott

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  • J. G. R. Gilbert

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  • M. E. Clamp

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  • G. Bethel

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  • S. Milne

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  • R. Ainscough

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  • J. P. Almeida

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  • J. Rogers

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  • 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. 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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