Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

Stuart E. Leff, Camilynn I. Brannan, Martha L. Reed, Tayfun Özçelik, Uta Francke, Neal G. Copeland, Nancy A. Jenkins

Research output: Contribution to journalArticle

211 Scopus citations

Abstract

Prader-Willi syndrome (PWS) is associated with paternal gene deficiencies in human chromosome 15q11-13, suggesting that PWS is caused by a deficiency in one or more maternally imprinted genes. We have now mapped a gene, Snrpn, encoding a brain-enriched small nuclear ribonucleoprotein (snRNP)-associated polypeptide SmN, to mouse chromosome 7 in a region of homology with human chromosome 15q11-13 and demonstrated that Snrpn is a maternally imprinted gene in mouse. These studies, in combination with the accompanying human mapping studies showing that SNRPN maps in the Prader-Willi critical region, identify SNRPN as a candidate gene involved in PWS and suggest that PWS may be caused, in part, by defects in mRNA processing.

Original languageEnglish (US)
Pages (from-to)259-264
Number of pages6
JournalNature Genetics
Volume2
Issue number4
DOIs
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Genetics

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