Topic: SNORD116

Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by the loss of the expression of the paternally expressed genes contained at PWS locus, located at chromosome 15 in humans. The most common molecular cause of the syndrome is a deletion of some of the genes located in this cluster, and specifically, a critical region (PWScr) has been postulated as the minimal deletion capable of giving rise to a PWS phenotype. This region contains several tandem-repeated copies of snoRNA-coding gene SNORD116 and the non-coding gene IPW. In adult mammals, new neurons are produced along the whol

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder, characterized by hyperphagia, developmental delay and cognitive deficits. The PWS genomic locus (15q11-q13) is maternally imprinted and the pathology arises when the paternal genome copy is deleted, with maternal uniparental disomy of chromosome 15 or imprinting defects. This genomic locus harbors different C/D box small nucleolar RNAs (SNORDs) that feature short transcripts usually involved in post-transcriptional modifications of rRNA. In particular, SNORD116 is included in the majority of the disease-causing chromosomal deletions