Article
A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.
Human molecular genetics - 1 Sept 2011
Dubose Amanda J, Smith Emily Y, Yang Thomas P, Johnstone Karen A, Resnick James L
Abstract excerpt
The human chromosomal 15q11-15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal gene expression leads to Angelman syndrome. Transcription of paternally expressed genes in the region depends upon an imprinting center termed the PWS-IC. Imprinting defects in PWS can be caused...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.