Phylogenetic Analysis of the SNORD116 Locus.

The small nucleolar RNA locus () is contained within the long noncoding RNA host gene on human chromosome 15q11-q13. The locus is a cluster of 28 or more small nucleolar (sno) RNAs; C/D box (SNORDs). Individual RNAs within the cluster are tandem, highly similar sequences, referred to as , , etc., with the entire set referred to as @. There are also related loci on other chromosomes, and these additional loci are conserved among primates. Inherited chromosomal 15q11-q13 deletions, encompassing the @ locus, are causative for the paternally-inherited/maternally-imprinted genetic condition, Prader-Willi syndrome (PWS). Using in silico tools, along with molecular-based and sequenced-based confirmation, phylogenetic analysis of the @ locus was performed. The consensus sequence for the SNORD116@ snoRNAs from various species was determined both for all the snoRNAs, as well as those grouped using sequence and location according to a human grouping convention. The implications of these findings are put in perspective for studying in patients with inherited Prader-Willi syndrome, as well as model organisms.