A Conversation with Marisa Bartolomei.

Abstract

Dr. Bartolomei: Imprinting is a mammalian phenomenon, and it affects ∼100–200 genes. It’s nicely conserved in mammals, which gives us the opportunity to use mouse as a good model to study imprinting in humans. These genes have very important processes in growth, but they also have functions in postnatal energy homeostasis, in behavior, and in other processes. So, when these genes are missing or defective, you end up with very broad changes—broad sorts of imprinting disorders—if there are defects in humans. That would include Beckwith– Wiedemann or Silver–Russell syndromes—those are growth imprinting disorders—or Angelman and Prader– Willi syndromes, and those are neurobehavioral disorders. So they have a broad range of functions, and absence of these genes causes these disorders, which is why we want to really understand their regulation.