title: Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region.
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.
authors.affiliation: Department of Pharmacology, Stanford University School of Medicine, California 94305.
authors.forename: S E
authors.initials: SE
authors.lastname: Leff
authors.forename: C I
authors.initials: CI
authors.lastname: Brannan
authors.forename: M L
authors.initials: ML
authors.lastname: Reed
authors.forename: T
authors.initials: T
authors.lastname: Ozçelik
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: N G
authors.initials: NG
authors.lastname: Copeland
authors.forename: N A
authors.initials: NA
authors.lastname: Jenkins
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003433:Crosses, Genetic; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009115:Muridae; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins; D004247:DNA