Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.

ABSTRACT: Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder characterized by neonatal hypotonia, followed by hyperphagia and obesity. Most PWS cases exhibit megabase-scale deletions of paternally imprinted 15q11-q13 locus. However, several PWS patients have been identified harboring much smaller deletions encompassing the SNORD116 gene cluster, suggesting these genes are direct drivers of PWS phenotypes. This cluster contains 30 copies of individual SNORD116 C/D box small nucleolar RNAs (snoRNAs). Many C/D box snoRNAs have been shown to guide chemical modifications of RNA molecules, often ribosomal RNA (rRNA). Conversely, SNORD116 snoRNAs show no significant complementarity to rRNA and their targets are unknown. Since many reported PWS cases lack their expression, it is crucial to id

SUBMITTER: Gilmore RB 

PROVIDER: S-EPMC11662933 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature