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 & 43 others 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

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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.

Original languageEnglish
Pages (from-to)311-319
Number of pages9
JournalNature
Volume405
Issue number6784
DOIs
Publication statusPublished - 2000 May 18
Externally publishedYes

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Chromosomes, Human, Pair 21
Human Chromosomes
Base Pairing
Chromosomes
Genes
Pseudogenes
Loss of Heterozygosity
Live Birth
Down Syndrome
Chromosome Aberrations
Intellectual Disability
Clone Cells
DNA
Neoplasms

ASJC Scopus subject areas

  • General

Cite this

Hattori, M., Fujiyama, A., Taylor, T. D., Watanabe, H., Yada, T., Park, H. S., ... Yaspo, M. L. (2000). The DNA sequence of human chromosome 21. Nature, 405(6784), 311-319. https://doi.org/10.1038/35012518

The DNA sequence of human chromosome 21. / Hattori, Masahira; Fujiyama, A.; Taylor, T. D.; Watanabe, H.; Yada, T.; Park, H. S.; Toyoda, A.; Ishii, K.; Totoki, Y.; Choi, D. K.; 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, S. E.; 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, M. L.

In: Nature, Vol. 405, No. 6784, 18.05.2000, p. 311-319.

Research output: Contribution to journalArticle

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
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS et al. The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-319. https://doi.org/10.1038/35012518
Hattori, Masahira ; Fujiyama, A. ; Taylor, T. D. ; Watanabe, H. ; Yada, T. ; Park, H. S. ; Toyoda, A. ; Ishii, K. ; Totoki, Y. ; Choi, D. K. ; 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, S. E. ; 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, M. L. / The DNA sequence of human chromosome 21. In: Nature. 2000 ; Vol. 405, No. 6784. pp. 311-319.
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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.}",
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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.

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