Imprinting mutations suggested by abnormal DNA methylation patterns in familial angelman and Prader-Willi syndromes
- Freie Universitaet, Berlin (Germany)
- Institut fuer Humangenetik, Essen (United Kingdom)
- Harvard Medical School, Boston, MA (United States)
- Karolinska Hospital, Stockholm (Sweden)
The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. The authors have found two Prader-Willi syndrome families in which the patients carry a maternal methylation imprint on the paternal chromosome. In one of these families, the patients have a small deletion encompassing the gene for the small nuclear ribonucleoprotein polypeptide N, which maps 130 kb telomeric to D15S63. Furthermore, they have identified a pair of nondeletion Angelman syndrome sibs and two isolated Angelman syndrome patients who carry a paternal methylation imprint on the maternal chromosome. These Angelman and Prader-Willi syndrome patients may have a defect in the imprinting process in 15q11-13. The authors propose a model in which a cis-acting mutation prevents the resetting of the imprinting signal in the germ line and thus disturbs the expression of imprinted genes in this region. 39 refs., 4 figs., 1 tab.
- OSTI ID:
- 7159717
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Detection of imprinting mutations in Angelman syndrome using a probe for exon {alpha} of SNRPN
Towards the cloning of imprinted genes in the Prader-Willi/Angelman region of chromosome 15q11-q13