|18 May 2000||
The sequence of human chromosome 21 is now available !
The sequence of HC21 was determined by an international consortium of scientists from Japan and
Germany, and collaborating institutions in France, Switzerland, USA and UK. The paper will be
published in the 18th of May issue of Nature and is available free at
http://www.nature.com/. In addition, a free copy of this
issue of Nature can be obtained from
The DNA sequence of human chromosome 21
M. 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. HORNISCHER, 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, S. WEHRMEYER, K. BORZYM, K. GARDINER, D. NIZETIC, F. FRANCIS, H. LEHRACH, R. REINHARDT & M.-L. YASPO
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 basepairs (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.
The sequence data can be obtained from
Links to home pages of groups involved
RIKEN, Genomic Sciences Center, Sagamihara 228-8555, Japan
Department of Molecular Biology, Keio University School of Medicine, Tokyo 160-8582, Japan
Institut für Molekulare Biotechnologie, Genomanalyse, D-07745 Jena, Germany
Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin-Dahlem, Germany
GBF (German Research Centre for Biotechnology), Genome Analysis, D-38124 Braunschweig, Germany
|19 May 1999||
31st ANNUAL MEETING
|7 May 1999||
Forthcoming seminars in the Division of Medical Genetics.
|18 April 1999||
Looking for information on human chromosome 21 genes, sequences and
resources? Look here !
|24 March 1999||
|14 January 1999||
31st ANNUAL MEETING
Local Hosts :
Prof. Stylianos ANTONARAKIS
DGM Home page | DGM Contacts