skip over navigation
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Division of Intramural Research

Latest DIR Publication

2012 DIR Annual Report Image

For more, visit the Publications pages.

Section on Genomic Imprinting

Karl Pfeifer, Section Head

We are using molecular, genetic, and biochemical approaches to elucidate molecular mechanisms for genomic imprinting, a phenomenon whereby expression of certain genes is restricted to either the paternal or the maternal allele. Genomic imprinting has significant implications in developmental biology, and disruptions in the allele-specific patterns of expression are implicated in several childhood disorders. Our focus is on mouse distal chromosome 7, a region with syntony to human 11p15.5 (associated with Beckwith-Wiedemann Syndrome and with Wilms\’ Tumor), and on the role of the unique H19 RNA in regulating expression of itself and its neighboring imprinted genes. A particular interest of our Unit is to use this system to understand the role of chromosome organization in gene regulation.

 

Resources