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| IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN FAMILIAL ANGELMAN AND PRADER-WILLI SYNDROMES |
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| Author(s): REIS A, DITTRICH B, GREGER V, BUITING K, LALANDE M, GILLESSENKAESBACH G, ANVRET M, HORSTHEMKE B |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 54 Issue: 5 Pages: 741-747 Published: MAY 1994 |
| Times Cited: 168 References: 39 |
| Abstract: The D15S9 and D15S63 Loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. We 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, we 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. We 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV ESSEN GESAMTHSCH KLINIKUM, INST HUMAN GENET, D-45122 ESSEN, GERMANY
2. FREE UNIV BERLIN, INST HUMAN GENET, W-1000 BERLIN, GERMANY
3. HARVARD UNIV, SCH MED, HOWARD HUGHES MED INST, BOSTON, MA 02115 USA
4. HARVARD UNIV, SCH MED, DIV GENET, BOSTON, MA USA
5. KAROLINSKA HOSP, DEPT CLIN GENET, S-10401 STOCKHOLM, SWEDEN |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: NH394 |
| ISSN: 0002-9297 |
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