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. Kumpf; R. 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

doi:10.1038/35012518

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

945 Citations (Scopus)

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.

Original language	English
Pages (from-to)	311-319
Number of pages	9
Journal	Nature
Volume	405
Issue number	6784
DOIs	https://doi.org/10.1038/35012518
Publication status	Published - 2000 May 18
Externally published	Yes

ASJC Scopus subject areas

General

Access to Document

10.1038/35012518

Cite this

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, 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, Homischer, K, Brandt, P, Scharfe, M, Schön, O, Desario, A, Reichelt, J, Kauer, G, Blöcker, H, Ramser, J, Beck, A, Klages, S, Hennig, S, Riesselmann, L, Dagand, E, Haaf, T, Wehrmeyer, S, Borzym, K, Gardiner, K, Nizetic, D, Francis, F, Lehrach, H, Reinhardt, R & Yaspo, ML 2000, 'The DNA sequence of human chromosome 21', Nature, vol. 405, no. 6784, pp. 311-319. https://doi.org/10.1038/35012518

@article{bfc8fa78dbeb400cb9796fb3bf50364c,

title = "The DNA sequence of human chromosome 21",

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.",

author = "Masahira Hattori and A. Fujiyama and Taylor, {T. D.} and H. Watanabe and T. Yada and Park, {H. S.} and A. Toyoda and K. Ishii and Y. Totoki and Choi, {D. K.} and E. Soeda and M. Ohki and T. Takagi and Y. Sakaki and S. Taudien and K. Blechschmidt and A. Polley and U. Menzel and J. Delabar and K. Kumpf and R. Lehmann and D. Patterson and K. Reichwald and A. Rump and M. Schillhabel and A. Schudy and W. Zimmermann and A. Rosenthal and J. Kudoh and K. Shibuya and K. Kawasaki and S. Asakawa and A. Shintani and T. Sasaki and K. Nagamine and S. Mitsuyama and Antonarakis, {S. E.} and S. Minoshima and N. Shimizu and G. Nordsiek and K. Homischer and P. Brandt and M. Scharfe and O. Sch{\"o}n and A. Desario and J. Reichelt and G. Kauer and H. Bl{\"o}cker and J. Ramser and A. Beck and S. Klages and S. Hennig and L. Riesselmann and E. Dagand and T. Haaf and S. Wehrmeyer and K. Borzym and K. Gardiner and D. Nizetic and F. Francis and H. Lehrach and R. Reinhardt and Yaspo, {M. L.}",

year = "2000",

month = may,

day = "18",

doi = "10.1038/35012518",

language = "English",

volume = "405",

pages = "311--319",

journal = "Nature",

issn = "0028-0836",

publisher = "Nature Publishing Group",

number = "6784",

}

TY - JOUR

T1 - The DNA sequence of human chromosome 21

AU - Hattori, Masahira

AU - Fujiyama, A.

AU - Taylor, T. D.

AU - Watanabe, H.

AU - Yada, T.

AU - Park, H. S.

AU - Toyoda, A.

AU - Ishii, K.

AU - Totoki, Y.

AU - Choi, D. K.

AU - Soeda, E.

AU - Ohki, M.

AU - Takagi, T.

AU - Sakaki, Y.

AU - Taudien, S.

AU - Blechschmidt, K.

AU - Polley, A.

AU - Menzel, U.

AU - Delabar, J.

AU - Kumpf, K.

AU - Lehmann, R.

AU - Patterson, D.

AU - Reichwald, K.

AU - Rump, A.

AU - Schillhabel, M.

AU - Schudy, A.

AU - Zimmermann, W.

AU - Rosenthal, A.

AU - Kudoh, J.

AU - Shibuya, K.

AU - Kawasaki, K.

AU - Asakawa, S.

AU - Shintani, A.

AU - Sasaki, T.

AU - Nagamine, K.

AU - Mitsuyama, S.

AU - Antonarakis, S. E.

AU - Minoshima, S.

AU - Shimizu, N.

AU - Nordsiek, G.

AU - Homischer, K.

AU - Brandt, P.

AU - Scharfe, M.

AU - Schön, O.

AU - Desario, A.

AU - Reichelt, J.

AU - Kauer, G.

AU - Blöcker, H.

AU - Ramser, J.

AU - Beck, A.

AU - Klages, S.

AU - Hennig, S.

AU - Riesselmann, L.

AU - Dagand, E.

AU - Haaf, T.

AU - Wehrmeyer, S.

AU - Borzym, K.

AU - Gardiner, K.

AU - Nizetic, D.

AU - Francis, F.

AU - Lehrach, H.

AU - Reinhardt, R.

AU - Yaspo, M. L.

PY - 2000/5/18

Y1 - 2000/5/18

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0034682403&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034682403&partnerID=8YFLogxK

U2 - 10.1038/35012518

DO - 10.1038/35012518

M3 - Article

C2 - 10830953

AN - SCOPUS:0034682403

SN - 0028-0836

VL - 405

SP - 311

EP - 319

JO - Nature

JF - Nature

IS - 6784

ER -

The DNA sequence of human chromosome 21

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this