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The DNA sequence of human chromosome 21

2000; Nature Portfolio; Volume: 405; Issue: 6784 Linguagem: Inglês

10.1038/35012518

1476-4687

Masahira Hattori, 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, Toshiyuki Takagi, Yoshiyuki Sakaki, Stefan Taudien, Karin Blechschmidt, Andreas Polley, Uwe Menzel, J.M. Delabar, Kai Kumpf, R. Lehmann, David Patterson, Kathrin Reichwald, Andreas Rump, M. Schillhabel, Andreas Schudy, Wolfgang Zimmermann, André Rosenthal, Jun Kudoh, Kazunori Shibuya, Kazuhiko Kawasaki, Shuichi Asakawa, Ai Shintani, Takashi Sasaki, Kentaro Nagamine, Susumu Mitsuyama, Stylianos E. Antonarakis, Satoshi Minoshima, Nobutaka Shimizu, Gabriele Nordsiek, Klaus Hornischer, P. Brandt, Maren Scharfe, Oliver Schön, Albertina De Sario, Julia Reichelt, Gerhard Kauer, Helmut Blöcker, Juliane Ramser, Amy Beck, Sven Klages, Steffen Hennig, L. Rießelmann, Emilie Dagand, Thomas Haaf, S. Wehrmeyer, Katja Borzym, Katheleen Gardiner, Dean Nižetić, Fiona Francis, Hans Lehrach, Richard Reinhardt, Marie‐Laure Yaspo,

Genetics and Neurodevelopmental Disorders

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.