Article
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.
Human molecular genetics - 1 Sept 2014
Cruvinel Estela, Budinetz Tara, Germain Noelle, Chamberlain Stormy, Lalande Marc, Martins-Taylor Kristen
Abstract excerpt
Prader-Willi syndrome (PWS), a disorder of genomic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphagia and obesity in adulthood. PWS results from the loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, on human chromosome 15q11-q13. We have investigated the mechanism of repression of the maternal SNORD116 cluster and...
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