Small nucleolar RNA SNORD115
| Small nucleolar RNA SNORD115 | |
|---|---|
| SO | SO:0000593 |
| PDB structures | PDBe |
In
small nucleolar RNA which usually functions in guiding the modification of other non-coding RNAs. This type of modifying RNA is usually located in the nucleolus
of the eukaryotic cell which is a major site of snRNA biogenesis. HBII-52 refers to the human gene, whereas RBII-52 is used for the rat gene and MBII-52 is used for naming the mouse gene.
HBII-52 belongs to the
C/D box class of snoRNAs which contain the conserved sequence motifs known as the C box (UGAUGA) and the D box (CUGA). Most of the members of the box C/D family function in directing site-specific 2'-O-methylation of substrate RNAs.[1]
In the human genome, HBII-52 is encoded in a tandemly repeated array with another C/D box snoRNA,
microdeletion in one family of the snoRNA HBII-52 cluster has excluded it from playing a major role in the disease.[3] HBII-52 is found in 47 tandem near identical copies on human chromosome 15q11-13. This locus is maternally imprinted, meaning that only the paternal copy of the locus is transcribed. HBII-52 is exclusively expressed in the brain but is absent in PWS patients. HBII-52 lacks any significant complementarity with ribosomal RNAs, but does have an 18 nucleotide region of conserved complementarity to serotonin 2C receptor mRNA.[4]
The serotonin 2C receptor is also expressed in the brain. It has been shown that this snoRNA is likely to bind to a silencing element of exon Vb increasing its inclusion and production of a functional spliceform of the serotonin 2C receptor.
The chromosomal locus containing the SNORD115 gene cluster has been duplicated in many individuals with
autistic traits.[5][6] A mouse model engineered to have a duplication of the SNORD115 cluster displays autistic-like behaviour.[7]
There is evidence that a truncated form of MBII-52 (SNORD115 found in mouse) regulates the alternative splicing of the protein coding genes
CRHR1.[8]
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