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PMID: 8178815 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

American journal of human genetics ·Vol. 54 ·No. 5 ·1994-05-00 ·Pages 741-7

Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B

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.

MeSH Terms
Angelman Syndrome/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
Chemicals
Genetic Markers DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Reis A
Institut für Humangenetik, Freie Universität, Berlin.
Dittrich B
Greger V
Buiting K
Lalande M
Gillessen-Kaesbach G
Anvret M
Horsthemke B
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-05-00
Pages
741-7
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918261
Subset
IM
Corrections
CommentIn
PMID: 8178814
External Links
PubMed source PMC Full Text View journal details
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