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Genetic imprinting mechanisms
Most genes are expressed equally from both chromosomes but some genes undergo genetic imprinting, the selective silencing of one parent’s allele. A cluster of imprinted genes on chromosome 15 contribute to three distinct disorders; Prader-Willi syndrome (PWS), Angelman syndrome (AS) and Dup15q syndrome. PWS results from a deficiency of genes expressed only from the paternal allele, AS from a deficiency of maternally expressed genes, and Dup15q from excess maternal contribution. Clusters of imprinted genes contain an “imprinting center (IC)” that regulates parent-of-origin identity and allele specific gene expression. The IC at the chromosome 15 imprinted domain consists of two distinct elements. The PWS-IC element functions in somatic cells to activate expression of paternal-only genes. The AS-IC functions in oocytes to epigenetically inactivate the PWS-IC such that the PWS-IC does not function on the future maternal allele. Failure of the PWS-IC element results in PWS and failure of the AS-IC results in AS.
We use mouse models to better understand how parent-of-origin identity contributes these syndromes. We have identified minimal sequences necessary for PWS-IC function, and determined the developmental window in which it is necessary. We have also identified the molecular function of the AS-IC in both mouse and human. Current efforts focus on how both elements regulate genes over long distances.
Postdoctoral Fellow, Princeton University
Ph.D., University of Pittsburgh
B.A., Colgate University
Awards, Professional Service:
Damon Runyon-Walter Winchell Cancer Fund Fellowship
USDA New Investigator Award
Sigma Xi Senior Faculty Research Award
University of Florida Exemplary Teacher
College of Medicine Faculty Council
University of Florida IACUC Faculty Member
BMS 6003 Medical Aspects of Genetics
GMS 6001 BMS Fundamentals Course Director
GMS 6001 BMS Fundamentals Genetics Module
BCH 7412 Epigenetics of Human Disease and Development
GMS 6331 Stem Cells
GMS 7191 Research Conference
GMS 7980 Doctoral Research