Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-04

AUTHORS

Karin Buiting, Shinji Saitoh, Stephanie Gross, Bärbel Dittrich, Stuart Schwartz, Robert D. Nicholls, Bernhard Horsthemke

ABSTRACT

A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, and probably have a defect in imprinting. Using probes from a newly established 160–kb contig including D15S63 (PW71) and SNRPN, we have identified inherited microdeletions in two AS families and three PWS families. The deletions probably affect a single genetic element that we term the 15q11–13 imprinting centre (IC). In our model, the IC regulates the chromatin structure, DMA methylation and gene expression in cis throughout 15q11–13. Mutations of the imprinting centre can be transmitted silently through the germline of one sex, but appear to block the resetting of the imprint in the germline of the opposite sex. More... »

PAGES

395-400

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0495-395

DOI

http://dx.doi.org/10.1038/ng0495-395

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010978804

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7795645


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