The DNA sequence of human chromosome 21

被引：846

作者：

Hattori, M

Fujiyama, A

Taylor, TD

Watanabe, H

Yada, T

Park, HS

Toyoda, A

Ishii, K

Totoki, Y

Choi, DK

Soeda, E

Ohki, M

Takagi, T

Sakaki, Y ^{[1
]}

Taudien, S

Blechschmidt, K

Polley, A

Menzel, U

Delabar, J

Kumpf, K

Lehmann, R

Patterson, D

Reichwald, K

Rump, A

Schillhabel, M

Schudy, A

Zimmermann, W

Rosenthal, A

Kudoh, J

Shibuya, K

Kawasaki, K

Asakawa, S

Shintani, A

Sasaki, T

Nagamine, K

Mitsuyama, S

Antonarakis, SE

Minoshima, S

Shimizu, N

Nordsiek, G

Hornischer, K

Brandt, P

Scharfe, M

Schön, O

Desario, A

Reichelt, J

Kauer, G

Blöcker, H

Ramser, J

Beck, A

机构：

[1] RIKEN, Genom Sci Ctr, Sagamihara, Kanagawa 2288555, Japan

[2] Inst Mol Biotechnol, D-07745 Jena, Germany

[3] Keio Univ, Sch Med, Dept Mol Biol, Tokyo 1608582, Japan

[4] GBF German Res Ctr Biotechnol, D-38124 Braunschweig, Germany

[5] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[6] RIKEN, Tsukuba Life Sci Res Ctr, Tsukuba, Ibaraki 3050074, Japan

[7] Natl Canc Ctr, Res Inst, Canc Genom Div, Tokyo 1040045, Japan

[8] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Tokyo 1088639, Japan

[9] UFR Necker Enfants Malad, CNRS, UMR 8602, F-75730 Paris, France

[10] Eleanor Roosevelt Inst Canc Res, Denver, CO 80206 USA

[11] Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland

[12] Inst Biol, CNRS, UPR 1142, F-34060 Montpellier, France

[13] Univ London, Sch Pharm, London WC1N 1AX, England

来源：

NATURE | 2000年 / 405卷 / 6784期

关键词：

D O I：

10.1038/35012518

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：311 / 319

页数：9

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