Chromosome 21 published

  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.


Chromosome 21 Publication

The DNA sequence of human chromosome 21 Nature 2000 May;18 .
pdf-File (743 kbyte)

Sequencing Centres

Consortium Institutions
RIKEN, Genomic Sciences Center, Sagamihara 228-8555, Japan
Institut für Molekulare Biotechnologie, Genomanalyse, D-07745 Jena, Germany
Department of Molecular Biology, Keio University School of Medicine, Tokyo 160-8582, Japan
German Research Centre for Biotechnology (GBF), Genome Analysis, D-38124 Braunschweig, Germany
Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin-Dahlem, Germany

Collaborating Institutions
RIKEN, Life Science Tsukuba Research Center, Tsukuba 305-0074 , Japan
Cancer Genomics Division, National Cancer Center Research Institute, Tokyo 104-0045, Japan
Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 108-8639 , Japan
UMR 8602 CNRS, UFR Necker Enfants-Malades , Paris, 75730, France
Eleanor Roosevelt Institute, Denver, Colorado 80206, USA
Medical Genetics Division, University of Geneva Medical School, Geneva 1211, Switzerland
CNRS UPR 1142, Institut de Biologie , Montpellier, 34060, France
School of Pharmacy, University of London, London WC1N 1AX, UK

Chromosome 21 Links

Sequencing Projects,
The Sanger Centre,
Genome Channel,