Rare Genetic Diseases

A role for Mom's genes in Prader-Willi syndrome

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Science  13 Jun 2014:
Vol. 344, Issue 6189, pp. 1239
DOI: 10.1126/science.344.6189.1239-e

Prader-Willi syndrome, a genetic disorder characterized by intellectual impairment, behavioral and learning disabilities, and other features, occurs in about 1 in 15,000 to 25,000 births. In most cases, the syndrome results when cells fail to express a part of chromosome 15 inherited from the father, but Steltzer et al. now show a maternal contribution as well. Cells taken from patients, they found, expressed higher amounts of genes from a specific section of chromosome 14, but only those genes inherited from the mother. The cells turned on those maternal genes by suppressing a long non-coding RNA and by modifying histones—proteins that regulate gene expression. Understanding what makes genes turn on and off inappropriately in individuals with Prader-Willi syndrome may help illuminate the causes of this disease and point the way toward treatments.

Nat Genet. 10.1038/ng.2968 (2014).

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