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© 1993 Oxford University Press

RESEARCH-ARTICLE

Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

Karin Bulting, Bärbel Dlttrich, Stephanle Groß, Valerle Greger1, Marc Lalande1, Wendy Robinson2, Apiwat Mutirangura3,+, David Ledbetter3 and Bernhard Horsthemke*

Instrtut für Humangenetik, Universitatsksikum Essen Hufelandstrasse 55, D-45122 Essen, Germany 1The Howard Hughes Institute and The Children's Hospital Boston, MA, USA 2Institut für Medizinische Genetik Zürich, Switzerland 3Baylor College of Medicine Houston, TX, USA

*To whom correspondence should be addressed

The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader—Willi syndrome comprises 320 kb. The region Includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere.


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