Karl Pfeifer PhD

Karl Pfeifer

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Karl Pfeifer in the Section on Genomic Imprinting examines the regulated expression and the biological functions of a cluster of imprinted genes on the distal end of mouse chromosome 7. The human equivalent on chromosome 11p15.5 is clinically of great importance as mutations in the region are associated with Beckwith Wiedemann syndrome, with several types of childhood and adult cancers, and with inherited cardiac arrhythmias.

Our goal is to understand how these genes are regulated during normal development and how mutation of these genes and disruption of their imprinted expression patterns can lead to human disease. To this end, our research is focused in three areas. First, we want to learn how the epigenome is established during germ cell development and then modified as cells divide and differentiate. Second, we want to understand how the epigenetic marks interact with the cellular transcriptional machinery to establish and maintain the gene expression patterns that are essential for normal development. Finally, we want to establish mouse models for human diseases associated with this region and to use these models to develop novel therapies. Our research is all genetic based and uses mouse models and primary cell lines developed from these mutant strains.

Selected Publications

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