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.