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Hum Mutat. 2012 Oct;33(10):E2367-74. doi: 10.1002/humu.22158. Epub 2012 Jul 6.

Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci.

Author information

1
GN Ramachandran Knowledge Center for Genome Informatics, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi-110007, India.

Abstract

Small nucleolar RNAs (snoRNAs) are a class of noncoding functional RNAs which are involved in RNA modifications, like methylation and pseudouridylation of other RNAs. The snoRNA species of RNAs are characterized by conserved structural motifs they harbor which are also intricately related to their functionality. Though there have been reports of the involvement of snoRNAs in disease processes and anecdotal reports of genomic variations in snoRNA loci and their effects in modulating snoRNA function, there has been no systematic collection and analysis of variations in snoRNA loci. In this manuscript, we present the most comprehensive curation of genomic single nucleotide variations in human snoRNA loci, and their systematic computational analysis to reveal potential single nucleotide variations which could have functional effects. We show six single nucleotide variations in snoRNA loci could significantly alter snoRNA structure and could have potential implications in their functions. The compilation is available at the snoRNA locus specific variation database: http://genome.igib.res.in/snolovd conforming to the HGVS standards for nomenclature of genomic variants.

PMID:
22778062
DOI:
10.1002/humu.22158
[Indexed for MEDLINE]

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