Phylogenetic Analysis of the SNORD116 Locus

The  SNORD116 small nucleolar RNA locus ( SNORD116@) is contained within the long noncoding RNA host gene  SNHG14 on human chromosome 15q11-q13. The  SNORD116 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  SNORD116-1SNORD116-2, etc., with the entire set referred to as  SNORD116@. There are also related  SNORD116 loci on other chromosomes, and these additional loci are conserved among primates. Inherited chromosomal 15q11-q13 deletions, encompassing the  SNORD116@ 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  SNORD116@ locus was performed. The consensus sequence for the SNORD116@ snoRNAs from various species was determined both for all the  SNORD116 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  SNORD116 in patients with inherited Prader–Willi syndrome, as well as model organisms.
Keywords: Prader–Willi Syndrome; snoRNA; phylogenetic analysis; imprinting