Small nucleolar RNA SNORD113
Encyclopedia
Small nucleolar RNA SNORD113 (also known as C/D box snoRNA 14q(I)) 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.
In humans the imprinted domain at 14q32 contains two clusters of tandemly repeated small nucleolar RNAs named 14q(I) and 14q(II) snoRNAs. These two clusters contain 9 and 31 highly related snoRNAs respectively. These two related snoRNAs are known as SNORD113 and SNORD114 respectively in the HGNC
approved gene
symbol nomenclature. The snoRNAs found in each cluster are clearly related and are simply referred to with a 1-9 or 1-31 suffix. All the snoRNAs in these clusters are intron
encoded and are processed from the tissue-specific non-coding human MEG8
RNA, which lies downstream of the imprinted genes DLK1 and GTL2.
SNORD113 and SNORD114 belong 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. However, SNORD113 and SNORD114 differ from most C/D box snoRNAs in their expression profiles (which is tissue specific) and the lack of complementarity to rRNA and SnRNA. As a result they are not predicted to guide to 2'O-methylation of a rRNA or snRNA.
Homologues of SNORD113 and SNORD114 are found in the imprinted non-coding mouse transcript Rian where they are again found in tandem array of 9 highly related snoRNAs. These snoRNAs also display tissue specific (brain) expression. C/D box snoRNAs were also identified in the rat non-coding Bsr (brain-specific repetitive) RNA.
Another imprinted human locus 15q11q13 encodes tandemly repeated C/D box snoRNA genes which are expressed only from the paternal chromosome
. Studies of human and mouse model systems have shown that deletion of the 29 copies of the C/D box snoRNA SNORD116 (HBII-85) from this locus has been shown to be the primary cause of Prader-Willi syndrome
. A possible role for tandemly repeated C/D snoRNA genes in the evolution and/or mechanism of the epigenetic imprinting process has been suggested.
SnoRNA
Small nucleolar RNAs are a class of small RNA molecules that primarily guide chemical modifications of other RNAs, mainly ribosomal RNAs, transfer RNAs and small nuclear RNAs...
molecule which is located in the imprinted human 14q32 locus
Locus (genetics)
In the fields of genetics and genetic computation, a locus is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map...
and may play a role in the evolution and/or mechanism of the epigenetic imprinting process.
In humans the imprinted domain at 14q32 contains two clusters of tandemly repeated small nucleolar RNAs named 14q(I) and 14q(II) snoRNAs. These two clusters contain 9 and 31 highly related snoRNAs respectively. These two related snoRNAs are known as SNORD113 and SNORD114 respectively in the HGNC
HUGO Gene Nomenclature Committee
The HUGO Gene Nomenclature Committee approves a unique and meaningful name for every known human gene based on a query of experts. In addition to a long name, the HGNC also assigns an abbreviation to every gene...
approved gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
symbol nomenclature. The snoRNAs found in each cluster are clearly related and are simply referred to with a 1-9 or 1-31 suffix. All the snoRNAs in these clusters are intron
Intron
An intron is any nucleotide sequence within a gene that is removed by RNA splicing to generate the final mature RNA product of a gene. The term intron refers to both the DNA sequence within a gene, and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final...
encoded and are processed from the tissue-specific non-coding human MEG8
MEG8 (gene)
In molecular biology, Maternally expressed 8 , also known as MEG8 or Rian , is a long non-coding RNA. It is an imprinted gene, which is maternally expressed. It is expressed in the nucleus and is preferentially expressed in skeletal muscle....
RNA, which lies downstream of the imprinted genes DLK1 and GTL2.
SNORD113 and SNORD114 belong to the C/D box class of snoRNAs which contain the conserved sequence motifs
Sequence motif
In genetics, a sequence motif is a nucleotide or amino-acid sequence pattern that is widespread and has, or is conjectured to have, a biological significance...
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
Methylation
In the chemical sciences, methylation denotes the addition of a methyl group to a substrate or the substitution of an atom or group by a methyl group. Methylation is a form of alkylation with, to be specific, a methyl group, rather than a larger carbon chain, replacing a hydrogen atom...
of substrate RNAs. However, SNORD113 and SNORD114 differ from most C/D box snoRNAs in their expression profiles (which is tissue specific) and the lack of complementarity to rRNA and SnRNA. As a result they are not predicted to guide to 2'O-methylation of a rRNA or snRNA.
Homologues of SNORD113 and SNORD114 are found in the imprinted non-coding mouse transcript Rian where they are again found in tandem array of 9 highly related snoRNAs. These snoRNAs also display tissue specific (brain) expression. C/D box snoRNAs were also identified in the rat non-coding Bsr (brain-specific repetitive) RNA.
Another imprinted human locus 15q11q13 encodes tandemly repeated C/D box snoRNA genes which are expressed only from the paternal chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
. Studies of human and mouse model systems have shown that deletion of the 29 copies of the C/D box snoRNA SNORD116 (HBII-85) from this locus has been shown to be the primary cause of Prader-Willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
. A possible role for tandemly repeated C/D snoRNA genes in the evolution and/or mechanism of the epigenetic imprinting process has been suggested.