Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
| Autor: | Reis A, Dittrich B, Valerie Greger, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B |
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| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male congenital hereditary and neonatal diseases and abnormalities Chromosomes Human Pair 15 Genotype Models Genetic Restriction Mapping nutritional and metabolic diseases Chromosome Mapping DNA Methylation nervous system diseases Blotting Southern Mutation Humans Female Angelman Syndrome Prader-Willi Syndrome Research Article |
| Zdroj: | ResearcherID Europe PubMed Central |
| ISSN: | 0002-9297 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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