Temporal and developmental requirements for the Prader—Willi imprinting center

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 eis to activate transcription of genes that are expressed exclusively from the paternal allele. We have cre...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2012-02, Vol.109 (9), p.3446-3450
Main Authors: DuBose, Amanda J., Smith, Emily Y., Johnstone, Karen A., Resnick, James L.
Format: Article
Language:English
Subjects:
Alleles
Animals
Biological Sciences
Blastocyst
Brain
Brain - embryology
Disease Models, Animal
DNA
DNA Methylation
Embryonic Development - genetics
Exons
Female
Gene expression
Gene Expression Regulation, Developmental
Genes
Genetic disorders
Genetic loci
Genomic Imprinting
Genotype & phenotype
Germ cells
Male
Methylation
Mice
Mice, Inbred C57BL
Mice, Mutant Strains
Nerve Tissue Proteins - biosynthesis
Nerve Tissue Proteins - genetics
Neurogenesis - genetics
Prader Willi syndrome
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - physiopathology
Promoter Regions, Genetic - genetics
RNA, Small Nucleolar - biosynthesis
RNA, Small Nucleolar - genetics
Sequence Deletion
Small nucleolar RNA
snRNP Core Proteins - biosynthesis
snRNP Core Proteins - genetics
Time Factors
Transcription, Genetic
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Summary: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 eis 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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.1115057109