Agouti Gene Research

  Mouse models of human disease, including the role of the agouti gene in cancer, the genetic disease hereditary tyrosinemia, Type 1 (HT1), and murine leukemia retroviruses, are a focus of research in ORNL's Life Sciences Division. Mouse models of human disease are a focus of research in ORNL's Life Sciences Division. The goal of research in the Mammalian Genetics Development Section directed at the agouti gene was to determine if the mouse agouti gene has a primary role in promoting skin cancer. The Section is also conducting research involving mouse models for the human genetic disease Hereditary Tyrosinemia, Type 1 (HT1) . HT1 is a severe metabolic disorder caused by mutations in the human enzyme fumalyla cetoacetate hydrolase (FAH), which normally functions in utilization of the dietary amino acid tyrosine. Another research goal is to understand what causes leukemia and lymphoma in humans so that these cancers can be treated more effectively. Research has proven that certain strains of mice that were originally bred to study the genetics of cancer get cancer because of murine leukemia retroviruses. Because we have molecular probes for the retroviruses, they provide useful "tags" to identify novel proto-oncogenes causally associated with the growth and progression of the cancer.. This investigation of the molecular genetic changes in mouse and human cancers may lead to a better understanding of the development of certain human cancers, to earlier diagnoses, and to better treatment strategies.

Technical contact: Dabney Johnson
Phone: 574-0953
E-mail: k29@ornl.gov