Small nucleolar RNA SNORD115

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Small nucleolar RNA SNORD115
RF00105.jpg
Predicted secondary structure and sequence conservation of SNORD115
Identifiers
SymbolSNORD115
Alt. SymbolssnoHBII-52; HBII-52
Rfam RF00105
Other data
RNA type Gene; snRNA; snoRNA; CD-box
Domain(s) Eukaryota
GO GO:0006396 GO:0005730
SO SO:0000593
PDB structures PDBe

In molecular biology, SNORD115 (also known as HBII-52) is a non-coding RNA (ncRNA) molecule known as a 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, HBII-85 (SNORD116), in the Prader-Willi syndrome (PWS) region of chromosome 15. [2] However, a 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 DPM2, TAF1, RALGPS1, PBRM1, and CRHR1. [8]

Related Research Articles

<span class="mw-page-title-main">Prader–Willi syndrome</span> Rare genetic disorder caused by part of the fathers chromosome 15 being missing

Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.

In molecular biology, Small nucleolar RNAs (snoRNAs) are a class of small RNA molecules that primarily guide chemical modifications of other RNAs, mainly ribosomal RNAs, transfer RNAs and small nuclear RNAs. There are two main classes of snoRNA, the C/D box snoRNAs, which are associated with methylation, and the H/ACA box snoRNAs, which are associated with pseudouridylation. SnoRNAs are commonly referred to as guide RNAs but should not be confused with the guide RNAs that direct RNA editing in trypanosomes or the guide RNAs (gRNAs) used by Cas9 for CRISPR gene editing.

<span class="mw-page-title-main">Small nucleolar RNA SNORA35</span>

In molecular biology, for Homo sapienssnoRA35 is an H/ACA box snoRNA, first cloned from a mouse adult brain cDNA library by Cavaillé et al. (2000), and found to be specifically expressed in the choroid plexus. Its human orthologue, HBI-36 was discovered by a homology search, and was found to be specifically expressed in the brain. Its gene resides in the second intron of the serotonin receptor 2c (5HT-2c) gene, which is predominantly expressed in choroid plexus epithelial cells. The human 5HT-2c mRNA was predicted to be 2'O-methylated by the C/D box snoRNP HBII-52 at a position also subjected to A:I editing. HBI-36 has no documented RNA target.

<span class="mw-page-title-main">Small nucleolar RNA SNORD116</span> Non-coding RNA molecule involved in Prader–Willi syndrome

In molecular biology, SNORD116 is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs). This type of modifying RNA is usually located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD16</span>

In molecular biology, snoRNA U16 is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs). This type of modifying RNA is usually located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD19</span> Type of RNA molecule found in eukaryotic cells

In molecular biology, SNORD19 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD45</span>

In molecular biology, snoRNA U45 is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs). This type of modifying RNA is usually located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD50</span>

In molecular biology, snoRNA U50 is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs). This type of modifying RNA is usually in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD59</span>

In molecular biology, snoRNA U59 is an RNA molecule that belongs to the C/D class of snoRNA, which contain the C box motif (UGAUGA) and the D box motif (CUGA). Most of the members of the box C/D family function in directing site-specific 2'-O-methylation of substrate RNAs. There are two closely related copies of U59, called SNORD59A and SNORD59B. They are both expressed from the intron of the host gene ATP5A. Both SNORD59A and SNORD59B target the 2'-O-methylation of 18S rRNA position A1031. This RNA has been identified in both the human and mouse genomes. Not to be confused with the plant snoRNA U59.

<span class="mw-page-title-main">Small nucleolar RNA SNORD64</span>

In molecular biology, SNORD64 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD66</span>

In molecular biology, SNORD66 is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs). This type of modifying RNA is usually located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD70</span>

In molecular biology, snoRNA SNORD70 (HBII-234) is a non-coding RNA that belongs to the C/D family of snoRNAs. It is the human orthologue of the mouse MBII-234 and is predicted to guide 2'O-ribose methylation of the small 18S rRNA on position A512. It is hosted, together with HBII-95, by the core C/D box snoRNA protein encoding gene NOP5/NOP58.

<span class="mw-page-title-main">Small nucleolar RNA SNORD90</span>

In molecular biology, snoRNA SNORD90 (HBII-295) is a non-coding RNA that belongs to the family of C/D snoRNAs. Initially described as HBII-295 this RNA has now been called SNORD70 by the HUGO Gene Nomenclature Committee. It is the human orthologue of the mouse MBII-295 and has no identified RNA target. This RNA is expressed from an intron of the MNAB/OR1K1 gene.

<span class="mw-page-title-main">Small nucleolar RNA SNORD93</span>

In molecular biology, Small Nucleolar RNA SNORD93 is a non-coding RNA (ncRNA) molecule that functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the Eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and is also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD23</span>

In molecular biology, Small Nucleolar RNA SNORD23 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD75</span>

In molecular biology, Small Nucleolar RNA SNORD75 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD88</span>

In molecular biology, Small Nucleolar RNA SNORD88 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD92</span>

In molecular biology, Small Nucleolar RNA SNORD92 is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs). This type of modifying RNA is located in the nucleolus of the eukaryotic cell which is a major site of snRNA biogenesis. It is known as a small nucleolar RNA (snoRNA) and also often referred to as a guide RNA.

<span class="mw-page-title-main">Small nucleolar RNA SNORD113</span>

In molecular biology, Small nucleolar RNA SNORD113 is a small nucleolar RNA molecule which is located in the imprinted human 14q32 locus and may play a role in the evolution and/or mechanism of the epigenetic imprinting process.

<span class="mw-page-title-main">Ube3a-ATS</span> Non-coding RNA in the species Homo sapiens

UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of a larger transcript called LNCAT at the Ube3a locus. The Ube3a locus is imprinted and in the central nervous system expressed only from the maternal allele. Silencing of Ube3a on the paternal allele is thought to occur through the Ube3a-ATS part of LNCAT, since non-coding antisense transcripts are often found at imprinted loci. The deletion and/or mutation of Ube3a on the maternal chromosome causes Angelman Syndrome (AS) and Ube3a-ATS may prove to be an important aspect in finding a therapy for this disease. While in patients with AS the maternal Ube3a allele is inactive, the paternal allele is intact but epigenetically silenced. If unsilenced, the paternal allele could be a source of active Ube3a protein in AS patients. Therefore, understanding the mechanisms of how Ube3a-ATS might be involved in silencing the paternal Ube3a may lead to new therapies for AS. This possibility has been demonstrated by a recent study where the drug topotecan, administered to mice suffering from AS, activated expression of the paternal Ube3a gene by lowering the transcription of Ube3a-ATS.

References

  1. ↑ Galardi, S.; Fatica, A.; Bachi, A.; Scaloni, A.; Presutti, C.; Bozzoni, I. (October 2002). "Purified Box C/D snoRNPs Are Able to Reproduce Site-Specific 2'-O-Methylation of Target RNA in Vitro". Molecular and Cellular Biology . 22 (19): 6663–6668. doi:10.1128/MCB.22.19.6663-6668.2002. PMC   134041 . PMID   12215523.
  2. ↑ Cavaillé J, Buiting K, Kiefmann M, et al. (2000). "Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14311–6. Bibcode:2000PNAS...9714311C. doi: 10.1073/pnas.250426397 . PMC   18915 . PMID   11106375.
  3. ↑ Runte M, Varon R, Horn D, Horsthemke B, Buiting K (2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome". Hum Genet. 116 (3): 228–30. doi:10.1007/s00439-004-1219-2. PMID   15565282. S2CID   23190709.
  4. ↑ Kishore S, Stamm S (January 2006). "The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C". Science. 311 (5758): 230–2. Bibcode:2006Sci...311..230K. doi: 10.1126/science.1118265 . PMID   16357227. S2CID   44527461.
  5. ↑ Bolton PF, Veltman MW, Weisblatt E, et al. (September 2004). "Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders". Psychiatr. Genet. 14 (3): 131–7. doi:10.1097/00041444-200409000-00002. PMID   15318025. S2CID   37344935.
  6. ↑ Cook EH, Scherer SW (October 2008). "Copy-number variations associated with neuropsychiatric conditions". Nature. 455 (7215): 919–23. Bibcode:2008Natur.455..919C. doi:10.1038/nature07458. PMID   18923514. S2CID   4377899.
  7. ↑ Nakatani J, Tamada K, Hatanaka F, et al. (June 2009). "Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism". Cell. 137 (7): 1235–46. doi:10.1016/j.cell.2009.04.024. PMC   3710970 . PMID   19563756.
  8. ↑ Kishore S, Khanna A, Zhang Z, Hui J, Balwierz PJ, Stefan M, Beach C, Nicholls RD, Zavolan M, Stamm S (2010). "The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing". Hum Mol Genet. 19 (7): 1153–64. doi:10.1093/hmg/ddp585. PMC   2838533 . PMID   20053671.
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