| Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. | |
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MedLine Citation:
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PMID: 8178815 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of human genetics Volume: 54 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1994 May |
Date Detail:
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Created Date: 1994-06-03 Completed Date: 1994-06-03 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 741-7 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik, Freie Universität, Berlin. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Angelman Syndrome
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genetics* Blotting, Southern Chromosome Mapping Chromosomes, Human, Pair 15* DNA / analysis*, genetics, metabolism Female Genetic Markers Genotype Humans Male Methylation Models, Genetic Mutation* Prader-Willi Syndrome / genetics* Restriction Mapping |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 9007-49-2/DNA |
| Comments/Corrections | |
Comment In:
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Am J Hum Genet. 1994 May;54(5):733-40
[PMID:
8178814
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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