Phylogenetic Analysis of the SNORD116 Locus

dc.contributor.authorKocher, Matthew A.en
dc.contributor.authorGood, Deborah J.en
dc.contributor.departmentHuman Nutrition, Foods, and Exerciseen
dc.date.accessioned2017-12-22T13:39:48Zen
dc.date.available2017-12-22T13:39:48Zen
dc.date.issued2017-11-30en
dc.date.updated2017-12-22T12:21:50Zen
dc.description.abstractThe <i>SNORD116</i> small nucleolar RNA locus (<i>SNORD116@</i>) is contained within the long noncoding RNA host gene <i>SNHG14</i> on human chromosome 15q11-q13. The <i>SNORD116</i> 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 <i>SNORD116-1</i>, <i>SNORD116-2</i>, etc., with the entire set referred to as <i>SNORD116</i>@. There are also related <i>SNORD116</i> loci on other chromosomes, and these additional loci are conserved among primates. Inherited chromosomal 15q11-q13 deletions, encompassing the <i>SNORD116</i>@ 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 <i>SNORD116</i>@ locus was performed. The consensus sequence for the SNORD116@ snoRNAs from various species was determined both for all the <i>SNORD116</i> 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 <i>SNORD116</i> in patients with inherited Prader–Willi syndrome, as well as model organisms.en
dc.description.versionPublished versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationKocher, M.A.; Good, D.J. Phylogenetic Analysis of the SNORD116 Locus. Genes 2017, 8, 358.en
dc.identifier.doihttps://doi.org/10.3390/genes8120358en
dc.identifier.urihttp://hdl.handle.net/10919/81393en
dc.language.isoenen
dc.publisherMDPIen
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectPrader–Willi Syndromeen
dc.subjectsnoRNAen
dc.subjectphylogenetic analysisen
dc.subjectimprintingen
dc.titlePhylogenetic Analysis of the SNORD116 Locusen
dc.title.serialGenesen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten

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