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An SNP map of human chromosome 22

Author

Listed:
  • J. C. Mullikin

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • S. E. Hunt

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • C. G. Cole

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • B. J. Mortimore

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • C. M. Rice

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. Burton

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • L. H. Matthews

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. Pavitt

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. W. Plumb

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • S. K. Sims

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. M. R. Ainscough

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. Attwood

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. M. Bailey

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • K. Barlow

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. M. M. Bruskiewich

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • P. N. Butcher

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • N. P. Carter

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • Y. Chen

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • C. M. Clee

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • P. C. Coggill

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. Davies

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. M. Davies

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • E. Dawson

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • M. D. Francis

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • A. A. Joy

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • R. G. Lamble

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • C. F. Langford

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. Macarthy

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • V. Mall

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • A. Moreland

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • E. K. Overton-Larty

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • M. T. Ross

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • L. C. Smith

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • C. A. Steward

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. E. Sulston

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • E. J. Tinsley

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • K. J. Turney

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • D. L. Willey

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • G. D. Wilson

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • A. A. McMurray

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • I. Dunham

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • J. Rogers

    (The Sanger Centre, Wellcome Trust Genome Campus)

  • D. R. Bentley

    (The Sanger Centre, Wellcome Trust Genome Campus)

Abstract

The human genome sequence will provide a reference for measuring DNA sequence variation in human populations. Sequence variants are responsible for the genetic component of individuality, including complex characteristics such as disease susceptibility and drug response. Most sequence variants are single nucleotide polymorphisms (SNPs), where two alternate bases occur at one position1,2,3. Comparison of any two genomes reveals around 1 SNP per kilobase1,3. A sufficiently dense map of SNPs would allow the detection of sequence variants responsible for particular characteristics on the basis that they are associated with a specific SNP allele4,5,6. Here we have evaluated large-scale sequencing approaches to obtaining SNPs, and have constructed a map of 2,730 SNPs on human chromosome 22. Most of the SNPs are within 25 kilobases of a transcribed exon, and are valuable for association studies. We have scaled up the process, detecting over 65,000 SNPs in the genome as part of The SNP Consortium programme, which is on target to build a map of 1 SNP every 5 kilobases that is integrated with the human genome sequence and that is freely available in the public domain.

Suggested Citation

  • J. C. Mullikin & S. E. Hunt & C. G. Cole & B. J. Mortimore & C. M. Rice & J. Burton & L. H. Matthews & R. Pavitt & R. W. Plumb & S. K. Sims & R. M. R. Ainscough & J. Attwood & J. M. Bailey & K. Barlow, 2000. "An SNP map of human chromosome 22," Nature, Nature, vol. 407(6803), pages 516-520, September.
    • Handle: RePEc:nat:nature:v:407:y:2000:i:6803:d:10.1038_35035089
    DOI: 10.1038/35035089
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    Cited by:

    1. Sandor Spisak & Viktoria Tisza & Pier Vitale Nuzzo & Ji-Heui Seo & Balint Pataki & Dezso Ribli & Zsofia Sztupinszki & Connor Bell & Mersedeh Rohanizadegan & David R. Stillman & Sarah Abou Alaiwi & Ala, 2023. "A biallelic multiple nucleotide length polymorphism explains functional causality at 5p15.33 prostate cancer risk locus," Nature Communications, Nature, vol. 14(1), pages 1-13, December.

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