The DNA sequence of human chromosome 21

Masahira 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, A. Polley, U. Menzel, J. Delabar, K. KumpfR. Lehmann, D. Patterson, K. Reichwald, A. Rump, M. Schillhabel, A. Schudy, W. Zimmermann, A. Rosenthal, J. Kudoh, K. Shibuya, K. Kawasaki, S. Asakawa, A. Shintani, T. Sasaki, K. Nagamine, S. Mitsuyama, S. E. Antonarakis, S. Minoshima, N. Shimizu, G. Nordsiek, K. Homischer, P. Brandt, M. Scharfe, O. Schön, A. Desario, J. Reichelt, G. Kauer, H. Blöcker, J. Ramser, A. Beck, S. Klages, S. Hennig, L. Riesselmann, E. Dagand, T. Haaf, S. Wehrmeyer, K. Borzym, K. Gardiner, D. Nizetic, F. Francis, H. Lehrach, R. Reinhardt, M. L. Yaspo

*この研究の対応する著者

研究成果: Article査読

900 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)311-319
ページ数9
ジャーナルNature
405
6784
DOI
出版ステータスPublished - 2000 5 18
外部発表はい

ASJC Scopus subject areas

  • 一般

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