Imprinted C/D snoRNA genes at the PWS locus

The PWS locus, also referred to as the Snurf-Snrpn domain, contains many C/D snoRNAs whose genes are mostly arranged in two large, paternally-expressed non-coding arrays of repeated units: the SNORD116 and SNORD115 genes The lack of expression of paternally-expressed genes at the imprinted Snurf-Snrpn domain is linked to the Prader-Willi Syndrome (PWS), a rare human disease characterized by a complex clinical picture including poor muscle tone in childhood followed by behavioral problems in adulthood, such as an obsession for food leading to severe obesity. The recent identification of micro-deletions in rare PWS patients strongly suggests that lack of C/D snoRNA genes, and particularly the SNORD116 cluster, plays an essential role in the etiology of the disease. Through the use of novel Knock-Out mouse and cellular models, we aim at deciphering the molecular and biological roles of PWS-encoded C/D snoRNA genes.