|5 December 2002||
Of mice, chromosome 21, and evolution
|6 August 2002||
Why are our hearts are on the left side of our bodies ?
In some patients with rare genetic disorders the heart
or another organ can be in the wrong position, which tells us that
genes and their protein products must contribute to the normal body
plan. Working on genetic material from a remarkable patient with an
unusual inheritance of genes, we recently identified a gene that contributes
to the laterality ("sidedness") of internal organs and which,
if mutated, causes a genetic disorder called Kartagener
syndrome or Primary Ciliary Dyskinesia.
The study, which was supported financially by the Carvajal Foundation and the Swiss National Science Foundation, is published in the August 6th, 2002 issue of the prestigious international journal "Proceedings of the National Academy of Sciences, USA".
|28 May 2000||
We recently completed the first chromosome specific cSNP database
and map (http://csnp.unige.ch), which
covers a large proportion of chromosome 21 genes.
|18 May 2000||
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
Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin-Dahlem,
GBF (German Research Centre for Biotechnology), Genome Analysis,
D-38124 Braunschweig, Germany
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