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Article

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

Nature genetics - 1 Feb 1994

Reed M L, Leff S E

Abstract excerpt

Prader-Willi syndrome (PWS), a human neuroendocrine disorder, is associated with deficiencies of paternal chromosome 15q12. Small nuclear ribonucleoprotein polypeptide N (SNRPN) is the first expressed gene identified in the PWS critically deleted region. Following our demonstration that the murine homologue of SNRPN is imprinted, we have characterized a sequence polymorphism within expressed portions of human...

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Source

Identifiers

PMID: 7512861
DOI: 10.1038/ng0294-163

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.PMID 7512861Read ↗

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

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

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.Semantic proximity Read ↗

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

Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editingSemantic 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 ↗

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

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome regionSemantic proximity Read ↗

Prader-Willi Syndrome Is Caused by Disruption of the SNRPN GeneSemantic proximity Read ↗

Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editingSemantic proximity Read ↗

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