title: The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.
abstract: In mice and humans, the locus encoding the gene for small nuclear ribonucleoprotein N (SNRPN/Snrpn), as well as other loci in the region are subject to genomic imprinting. The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies within an imprinting center that is required for switching to and/or maintenance of the paternal epigenotype. We show here that a 0.9-kb deletion of exon 1 of mouse Snrpn did not disrupt imprinting or elicit any obvious phenotype, although it did allow the detection of previously unknown upstream exons. In contrast, a larger, overlapping 4.8-kb deletion caused a partial or mosaic imprinting defect and perinatal lethality when paternally inherited.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors: J
authors: J
authors: Bressler
authors: T F
authors: TF
authors: Tsai
authors: M Y
authors: MY
authors: Wu
authors: S F
authors: SF
authors: Tsai
authors: M A
authors: MA
authors: Ramirez
authors: D
authors: D
authors: Armstrong
authors: A L
authors: AL
authors: Beaudet
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D000818:Animals; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002678:Chimera; D018899:CpG Islands; D004195:Disease Models, Animal; D005091:Exons; D005260:Female; D018392:Genomic Imprinting; D005838:Genotype; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011401:Promoter Regions, Genetic; 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