Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Bartolomei, Marisa S.
Location University of Pennsylvania
Primary Field Animal, Nutritional and Applied Microbial Sciences
Secondary Field Genetics
 Research Interests
Marisa Bartolomei's laboratory is interested in genomic imprinting and epigenetic gene regulation in mammalian development. Genomic imprinting, which affects a subset of genes in mammals, uses epigenetic modifications to effect the unequal expression of the maternal and paternal alleles of a gene. Consequently, the maternal and paternal genomes are functionally non-equivalent and both are required for normal development. To elucidate imprinted gene regulation, the Bartolomei laboratory identified cis-acting sequences and trans-acting factors, including DNA methylation machinery and CTCF, that confer, maintain and reprogram allele-specific epigenetic modifications in the germline and early embryo. Human imprinting disorders, including Silver-Russell and Beckwith-Wiedemann syndromes, result from deletion or epigenetic dysregulation of imprinted genes. The Bartolomei lab has generated humanized models of human imprinting syndromes to investigate these disorders. Additionally, the Bartolomei laboratory employs mouse models of environmental exposures and assisted reproductive technologies (ART). ART is associated with increased incidence of human imprinting disorders, which occurs through DNA methylation defects. Exposure to the commonly used compounds bisphenol A and phthalates is associated with a variety of adverse outcomes, such as obesity, diabetes and metabolic disorders. The mouse models, which mimic many human outcomes, are employed to investigate phenotypes and mechanisms leading to these phenotypes. ~

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