Small nuclear ribonucleoprotein polypeptide N

Small nuclear ribonucleoprotein polypeptide N, also known as SNRPN, is a human gene.cite web | title = Entrez Gene: SNRPN small nuclear ribonucleoprotein polypeptide N| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6638| accessdate = ]

PBB_Summary
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summary_text = The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Prader-Willi syndrome due to parental imprint switch failure.cite web | title = Entrez Gene: SNRPN small nuclear ribonucleoprotein polypeptide N| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6638| accessdate = ]

SNRPN-methylation is used to detect uniparental disomy of chromosome 15. [cite journal |author=White HE, Durston VJ, Harvey JF, Cross NC |title=Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome |journal=Clin. Chem. |volume=52 |issue=6 |pages=1005–13 |year=2006 |pmid=16574761 |doi=10.1373/clinchem.2005.065086] After fluorescent-in-situ-hybridization has confirmed the presence of either SNRPN or UBE3A (a neighboring gene that is also imprinted), the methylation test (of SNRPN) can reveal whether the patient has uniparental disomy. SNRPN is maternally methylated (silenced) [cite journal |author=Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W |title=Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method |journal=Hum. Mol. Genet. |volume=6 |issue=3 |pages=387–95 |year=1997 |pmid=9147641 |doi=] . UBE3A appears to be paternally methylated (silenced) "citation needed"

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ozçelik T, Leff S, Robinson W, "et al." |title=Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. |journal=Nat. Genet. |volume=2 |issue= 4 |pages= 265–9 |year= 1993 |pmid= 1303277 |doi= 10.1038/ng1292-265
*cite journal | author=Schmauss C, Brines ML, Lerner MR |title=The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. |journal=J. Biol. Chem. |volume=267 |issue= 12 |pages= 8521–9 |year= 1992 |pmid= 1533223 |doi=
*cite journal | author=Schmauss C, McAllister G, Ohosone Y, "et al." |title=A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'. |journal=Nucleic Acids Res. |volume=17 |issue= 4 |pages= 1733–43 |year= 1989 |pmid= 2522186 |doi=
*cite journal | author=Rokeach LA, Jannatipour M, Haselby JA, Hoch SO |title=Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis. |journal=J. Biol. Chem. |volume=264 |issue= 9 |pages= 5024–30 |year= 1989 |pmid= 2522449 |doi=
*cite journal | author=Renz M, Heim C, Bräunling O, "et al." |title=Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases. |journal=Clin. Chem. |volume=35 |issue= 9 |pages= 1861–3 |year= 1989 |pmid= 2528429 |doi=
*cite journal | author=Sharpe NG, Williams DG, Howarth DN, "et al." |title=Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera. |journal=FEBS Lett. |volume=250 |issue= 2 |pages= 585–90 |year= 1989 |pmid= 2753153 |doi=
*cite journal | author=Reed ML, Leff SE |title=Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. |journal=Nat. Genet. |volume=6 |issue= 2 |pages= 163–7 |year= 1994 |pmid= 7512861 |doi= 10.1038/ng0294-163
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Esposito F, Fiore F, Cimino F, Russo T |title=Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N". |journal=Biochem. Biophys. Res. Commun. |volume=195 |issue= 1 |pages= 317–26 |year= 1993 |pmid= 8363612 |doi= 10.1006/bbrc.1993.2047
*cite journal | author=Glenn CC, Saitoh S, Jong MT, "et al." |title=Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. |journal=Am. J. Hum. Genet. |volume=58 |issue= 2 |pages= 335–46 |year= 1996 |pmid= 8571960 |doi=
*cite journal | author=Dittrich B, Buiting K, Korn B, "et al." |title=Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. |journal=Nat. Genet. |volume=14 |issue= 2 |pages= 163–70 |year= 1996 |pmid= 8841186 |doi= 10.1038/ng1096-163
*cite journal | author=Sun Y, Nicholls RD, Butler MG, "et al." |title=Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. |journal=Hum. Mol. Genet. |volume=5 |issue= 4 |pages= 517–24 |year= 1996 |pmid= 8845846 |doi=
*cite journal | author=Buiting K, Dittrich B, Endele S, Horsthemke B |title=Identification of novel exons 3' to the human SNRPN gene. |journal=Genomics |volume=40 |issue= 1 |pages= 132–7 |year= 1997 |pmid= 9070929 |doi= 10.1006/geno.1996.4571
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Fury MG, Zhang W, Christodoulopoulos I, Zieve GW |title=Multiple protein: protein interactions between the snRNP common core proteins. |journal=Exp. Cell Res. |volume=237 |issue= 1 |pages= 63–9 |year= 1998 |pmid= 9417867 |doi= 10.1006/excr.1997.3750
*cite journal | author=Yang T, Adamson TE, Resnick JL, "et al." |title=A mouse model for Prader-Willi syndrome imprinting-centre mutations. |journal=Nat. Genet. |volume=19 |issue= 1 |pages= 25–31 |year= 1998 |pmid= 9590284 |doi= 10.1038/ng0598-25
*cite journal | author=Kuslich CD, Kobori JA, Mohapatra G, "et al." |title=Prader-Willi syndrome is caused by disruption of the SNRPN gene. |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 70–6 |year= 1999 |pmid= 9915945 |doi=
*cite journal | author=Färber C, Dittrich B, Buiting K, Horsthemke B |title=The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 337–43 |year= 1999 |pmid= 9931342 |doi=
*cite journal | author=Gray TA, Saitoh S, Nicholls RD |title=An imprinted, mammalian bicistronic transcript encodes two independent proteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 10 |pages= 5616–21 |year= 1999 |pmid= 10318933 |doi=
*cite journal | author=Gray TA, Smithwick MJ, Schaldach MA, "et al." |title=Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci. |journal=Nucleic Acids Res. |volume=27 |issue= 23 |pages= 4577–84 |year= 2000 |pmid= 10556313 |doi=

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