Welcome to the laboratory of Randy Jirtle in the Department of Radiation Oncology at Duke University. The overall objective of our laboratory is to investigate the evolution and regulation of imprinted genes involved in human behavioral diseases and cancer. We are presently investigating M6P/IGF2R at human chromosome location 6q27 that we identified to be a tumor suppressor frequently inactivated in a variety of tumors at an early stage of carcinogenesis, and confers a radioresistant pheontype in head and neck cancer (Jamieson et al. BMC Cancer 3:4, 2003). We have also identified that DLK1/GTL2 resides in a novel imprinted domain at human chromosome location 14q32, and are investigating its regulation by the callipyge (calli-, beautiful; pyge, buttocks) gene whose mutation results in fast twitch muscle hypertrophy in sheep (Freking et al. Genome Res. 12: 1496-1506, 2002).

We are presently testing the utility of using phylogenetic comparisons of known imprinted domains in Metatherians (i.e. opossum) and Eutherians (i.e. mouse and humans) to orthologous regions in non-imprinted Prototherians (i.e. platypus) to identify novel human imprinted genes and their cis-acting regulatory elements. These studies should provide those critical bioinformatic approaches required to more effectively characterize imprinted domains known to harbor genetic and/or epigenetic mutations mechanistically involved in behavioral disorders such as schizophrenia, bipolar disease and autism.