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Article

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Nature genetics - 1 Dec 1992

Ozçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U

Abstract excerpt

Prader-Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11-13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene...

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Source

Identifiers

PMID: 1303277
DOI: 10.1038/ng1292-265

Genes

SNRPN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.PMID 1303277Read ↗

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.Semantic proximity Read ↗

The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.Semantic proximity Read ↗

Structure and function correlations at the imprinted mouse Snrpn locus.Semantic proximity Read ↗

Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.Semantic proximity Read ↗

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.Semantic proximity Read ↗

A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.Semantic proximity Read ↗

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.Semantic proximity Read ↗

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.Semantic proximity Read ↗

Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.Semantic proximity Read ↗

Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.Semantic proximity Read ↗

Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain.Semantic proximity Read ↗

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.Semantic proximity Read ↗

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