Author:

DuBose AJ, Smith EY, Johnstone KA, Resnick JL

Scientific Notation:

Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3446-50

Publication:

http://www.pnas.org/cgi/pmidlookup?view=long&pmid=22331910

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.

FPWR Grant:

An improved mouse model of Prader-Willi syndrome (year 2)