The Section on Genomic Imprinting, led by Karl Pfeifer, examines the regulated expression and the biological functions of a cluster of imprinted genes on the distal end of mouse chromosome 7. Imprinting is an unusual form of gene regulation in which expression of a gene depends on parental-specific epigenetic modifications of the chromosome. Imprinted loci are an excellent model system for studying how epigenetic mechanisms regulate development and how developmental processes establish the epigenome. The group identified and characterized a 2.4 kb element that organizes higher-order chromosomal structures and long-range DNA interactions across a 120 kb region. Current work focuses on the role of non-coding RNAs in establishing these chromosomal structures. The group establishes mouse models for human diseases associated with genetic lesions in the region. Current studies focus on conditional gain of function and conditional loss of function of the cardiac calsequestrin 2 gene.
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