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The DNA sequence of human chromosome 21

Author

Listed:
  • M. Hattori

    (RIKEN, Genomic Sciences Center)

  • A. Fujiyama

    (RIKEN, Genomic Sciences Center)

  • T. D. Taylor

    (RIKEN, Genomic Sciences Center)

  • H. Watanabe

    (RIKEN, Genomic Sciences Center)

  • T. Yada

    (RIKEN, Genomic Sciences Center)

  • H.-S. Park

    (RIKEN, Genomic Sciences Center)

  • A. Toyoda

    (RIKEN, Genomic Sciences Center)

  • K. Ishii

    (RIKEN, Genomic Sciences Center)

  • Y. Totoki

    (RIKEN, Genomic Sciences Center)

  • D.-K. Choi

    (RIKEN, Genomic Sciences Center)

  • E. Soeda

    (RIKEN, Life Science Tsukuba Research Center)

  • M. Ohki

    (National Cancer Center Research Institute)

  • T. Takagi

    (Human Genome Center, Institute of Medical Science, University of Tokyo)

  • Y. Sakaki

    (RIKEN, Genomic Sciences Center
    Human Genome Center, Institute of Medical Science, University of Tokyo)

  • S. Taudien

    (Keio University School of Medicine)

  • K. Blechschmidt

    (Keio University School of Medicine)

  • A. Polley

    (Keio University School of Medicine)

  • U. Menzel

    (Keio University School of Medicine)

  • J. Delabar

    (UMR 8602 CNRS, UFR Necker Enfants-Malades)

  • K. Kumpf

    (Keio University School of Medicine)

  • R. Lehmann

    (Keio University School of Medicine)

  • D. Patterson

    (Eleanor Roosevelt Institute)

  • K. Reichwald

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • A. Rump

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • M. Schillhabel

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • A. Schudy

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • W. Zimmermann

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • A. Rosenthal

    (Institut für Molekulare Biotechnologie, Genomanalyse)

  • J. Kudoh

    (Keio University School of Medicine)

  • K. Shibuya

    (Keio University School of Medicine)

  • K. Kawasaki

    (Keio University School of Medicine)

  • S. Asakawa

    (Keio University School of Medicine)

  • A. Shintani

    (Keio University School of Medicine)

  • T. Sasaki

    (Keio University School of Medicine)

  • K. Nagamine

    (Keio University School of Medicine)

  • S. Mitsuyama

    (Keio University School of Medicine)

  • S. E. Antonarakis

    (University of Geneva Medical School)

  • S. Minoshima

    (Keio University School of Medicine)

  • N. Shimizu

    (Keio University School of Medicine)

  • G. Nordsiek

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • K. Hornischer

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • P. Brandt

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • M. Scharfe

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • O. Schön

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • A. Desario

    (CNRS UPR 1142, Institut de Biologie)

  • J. Reichelt

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • G. Kauer

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • H. Blöcker

    (GBF (German Research Centre for Biotechnology), Genome Analysis)

  • J. Ramser

    (Max-Planck-Institut für Molekulare Genetik)

  • A. Beck

    (Max-Planck-Institut für Molekulare Genetik)

  • S. Klages

    (Max-Planck-Institut für Molekulare Genetik)

  • S. Hennig

    (Max-Planck-Institut für Molekulare Genetik)

  • L. Riesselmann

    (Max-Planck-Institut für Molekulare Genetik)

  • E. Dagand

    (Max-Planck-Institut für Molekulare Genetik)

  • T. Haaf

    (Max-Planck-Institut für Molekulare Genetik)

  • S. Wehrmeyer

    (Max-Planck-Institut für Molekulare Genetik)

  • K. Borzym

    (Max-Planck-Institut für Molekulare Genetik)

  • K. Gardiner

    (Eleanor Roosevelt Institute)

  • D. Nizetic

    (School of Pharmacy, University of London)

  • F. Francis

    (Max-Planck-Institut für Molekulare Genetik)

  • H. Lehrach

    (Max-Planck-Institut für Molekulare Genetik)

  • R. Reinhardt

    (Max-Planck-Institut für Molekulare Genetik)

  • M.-L. Yaspo

    (Max-Planck-Institut für Molekulare Genetik)

Abstract

Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes.

Suggested Citation

  • M. Hattori & A. Fujiyama & T. D. Taylor & H. Watanabe & T. Yada & H.-S. Park & A. Toyoda & K. Ishii & Y. Totoki & D.-K. Choi & E. Soeda & M. Ohki & T. Takagi & Y. Sakaki & S. Taudien & K. Blechschmidt, 2000. "The DNA sequence of human chromosome 21," Nature, Nature, vol. 405(6784), pages 311-319, May.
    • Handle: RePEc:nat:nature:v:405:y:2000:i:6784:d:10.1038_35012518
    DOI: 10.1038/35012518
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    Cited by:

    1. Micah G. Donovan & Neetha P. Eduthan & Keith P. Smith & Eleanor C. Britton & Hannah R. Lyford & Paula Araya & Ross E. Granrath & Katherine A. Waugh & Belinda Enriquez Estrada & Angela L. Rachubinski &, 2024. "Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome," Nature Communications, Nature, vol. 15(1), pages 1-22, December.

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