The DNA sequence of human chromosome 21

Masahira Hattori(Center for Genomic Science), Asao Fujiyama, Todd D. Taylor, Hitoshi Watanabe, Tetsushi Yada, H.-S. Park, Atsushi Toyoda, Kazuo Ishii, Yasushi Totoki, Dong‐Kug Choi, E Soeda, Masafumi Ohki(National Cancer Centre Japan), Toshiyuki Takagi(Tokyo University of Science), Yoshiyuki Sakaki, Stefan Taudien(Keio University), Karin Blechschmidt(Keio University), Andreas Polley(Keio University), Uwe Menzel(Keio University), J.M. Delabar(Centre National de la Recherche Scientifique), Kai Kumpf(Keio University), R. Lehmann(Keio University), David Patterson(Roosevelt Institute), Kathrin Reichwald, Andreas Rump, M. Schillhabel, Andreas Schudy, Wolfgang Zimmermann, André Rosenthal, Jun Kudoh(Keio University), Kazunori Shibuya(Keio University), Kazuhiko Kawasaki(Keio University), Shuichi Asakawa(Keio University), Ai Shintani(Keio University), Takashi Sasaki(Keio University), Kentaro Nagamine(Keio University), Susumu Mitsuyama(Keio University), Stylianos E. Antonarakis(University of Geneva), Satoshi Minoshima(Keio University), Nobutaka Shimizu(Keio University), Gabriele Nordsiek(Helmholtz Centre for Infection Research), Klaus Hornischer(Helmholtz Centre for Infection Research), P. Brandt(Helmholtz Centre for Infection Research), Maren Scharfe(Helmholtz Centre for Infection Research), Oliver Schön(Helmholtz Centre for Infection Research), A. Desario(Centre National de la Recherche Scientifique), Julia Reichelt(Helmholtz Centre for Infection Research), Gerhard Kauer(Helmholtz Centre for Infection Research), Helmut Blöcker(Helmholtz Centre for Infection Research), Juliane Ramser(Max Planck Institute for Molecular Genetics), Amy Beck(Max Planck Institute for Molecular Genetics), Sven Klages(Max Planck Institute for Molecular Genetics), Steffen Hennig(Max Planck Institute for Molecular Genetics), L. Rießelmann(Max Planck Institute for Molecular Genetics), Emilie Dagand(Max Planck Institute for Molecular Genetics), Thomas Haaf(Max Planck Institute for Molecular Genetics), S. Wehrmeyer(Max Planck Institute for Molecular Genetics), Katja Borzym(Max Planck Institute for Molecular Genetics), Katheleen Gardiner(Roosevelt Institute), Dean Nižetić(University of London), Fiona Francis(Max Planck Institute for Molecular Genetics), Hans Lehrach(Max Planck Institute for Molecular Genetics), Richard Reinhardt(Max Planck Institute for Molecular Genetics), Marie‐Laure Yaspo(Max Planck Institute for Molecular Genetics)
Nature
May 18, 2000
10.1038/35012518
Cited by 1,475Open Access
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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.

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