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© 1993 Oxford University Press

RESEARCH-ARTICLE

Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region

Bärbel Dittrich, Karin Buiting, Stephanie Groß and Bernhard Horsthemke*

Institut für Humangenetik, Universitätsmimkum Essen Hufelandstrasse 55, D-45122 Essen, Germany

*To whom correspondence should be addressed

Received August 31, 1993; Revised October 14, 1993; Accepted October 14, 1993

In adult human tissues, a Hpall and a Cfol restriction site at the PW71 (D15S63) locus in the Prader — Willi syndrome region on chromosome 15 are methylated on the maternal chromosome, but unmethylated on the paternal chromosome. The Hpall site Is part of a sequence with high homology to the long terminal repeat of human endogenous retrovlruses. Another Hpall site at the PW71 locus is methylated on both chromosomes. Sperm DNA carries the adult paternal methylation pattern. Oocyte DNA could not be studied. In chorion, placenta and tumor DNA, both Hpall sites are unmethylated. These findings suggest that the PW71 methylation Imprint is established in the germline and that extraembryonic tissues and tumors are hypomethylated.


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