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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 http://www.nature.com/marketing/freecopy

Abstract of paper

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
http://hgp.gsc.riken.go.jp/chr21/index.html


Links to home pages of groups involved

RIKEN, Genomic Sciences Center, Sagamihara 228-8555, Japan
http://hgp.gsc.riken.go.jp/

Department of Molecular Biology, Keio University School of Medicine, Tokyo 160-8582, Japan
http://adenine.dmb.med.keio.ac.jp/

Institut für Molekulare Biotechnologie, Genomanalyse, D-07745 Jena, Germany
http://genome.imb-jena.de/

Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin-Dahlem, Germany
http://chr21.rz-berlin.mpg.de/

GBF (German Research Centre for Biotechnology), Genome Analysis, D-38124 Braunschweig, Germany
http://www.genome.gbf.de/



19 May 1999

31st ANNUAL MEETING
EUROPEAN SOCIETY OF HUMAN GENETICS


GENEVA, Palexpo
28 May-1 June 1999

Pour les habitants de Genève et environ, il est possible d'obtenir une ONE DAY REGISTRATION aux prix suivants :
Étudiants : 100.- CHF
Membres ESHG : 150.- CHF
Non-membres : 220.- CHF

Dans le prix sont compris le livre des abstracts et la possibilitÚ de venir à la réception d'ouverture le samedi soir.

Pour plus d'informations, s'adresser à CÚlia DeLozier-Blanchet, té(70)25.695, e-mail : Celia.Blanchet-Delozier@medecine.unige.ch.

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 !

HC21 resource page




24 March 1999

EMBO Workshop
Molecular biology of chromosome 21 and Down syndrome
8th International meeting


Israel
6-10 June 1999



Information on conference : http://www.weizmann.ac.il/chr21/




14 January 1999

31st ANNUAL MEETING
EUROPEAN SOCIETY OF HUMAN GENETICS


GENEVA, Palexpo
28 May-1 June 1999




Deadline for abstract submission: 15 January 1999!!

Submission/information on conference : http://www.eurocongres.com/eshg
Information on European Society : http://www.infobiogen.fr/agora/eshg



Local Hosts :  

Prof. Stylianos ANTONARAKIS
tel.(70)25.707/08
e-mail : Stylianos.Antonarakis@medecine.unige.ch

Dr CÚlia DeLozier-Blanchet
tel.(70)25.695
e-mail : Celia.Blanchet-Delozier@medecine.unige.ch




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