title: Temporal and developmental requirements for the Prader-Willi imprinting center.
abstract: Imprinted gene expression associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) is controlled by two imprinting centers (ICs), the PWS-IC and the AS-IC. The PWS-IC operates in cis to activate transcription of genes that are expressed exclusively from the paternal allele. We have created a conditional allele of the PWS-IC to investigate its developmental activity. Deletion of the paternal PWS-IC in the embryo before implantation abolishes expression of the paternal-only genes in the neonatal brain. Surprisingly, deletion of the PWS-IC in early brain progenitors does not affect the subsequent imprinted status of PWS/AS genes in the newborn brain. These results indicate that the PWS-IC functions to protect the paternal epigenotype at the epiblast stage of development but is dispensable thereafter.
authors.affiliation: Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610, USA.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: DuBose
authors.forename: Emily Y
authors.initials: EY
authors.lastname: Smith
authors.forename: Karen A
authors.initials: KA
authors.lastname: Johnstone
authors.forename: James L
authors.initials: JL
authors.lastname: Resnick
mesh_terms: D000483:Alleles; D000818:Animals; D001755:Blastocyst; D001921:Brain / Q000196:embryology; D019175:DNA Methylation; D004195:Disease Models, Animal; D047108:Embryonic Development / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D018392:Genomic Imprinting; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics; D055495:Neurogenesis / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000503:physiopathology; D011401:Promoter Regions, Genetic / Q000235:genetics; D020537:RNA, Small Nucleolar / Q000096:biosynthesis / Q000235:genetics; D017384:Sequence Deletion; D013997:Time Factors; D014158:Transcription, Genetic; D055517:snRNP Core Proteins / Q000096:biosynthesis / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; D020537:RNA, Small Nucleolar; D055517:snRNP Core Proteins