Mouse Gene Discovery Leads Researchers to Human Disease Gene

  The extreme conservation of genes and chromosomal regions between mouse and human has led to the direct correlation of disease between mouse and human. One human disease that has a counterpart in the mouse is human Chediak Higashi Syndrome (CHS). CHS is a disorder that causes clinical symptoms such as partial albinism (light hair and skin), an increased susceptibility to infections, and a predisposition to malignant lymphoma. The mouse counterpart is called beige, and beige mice have the same clinical symptoms as human CHS patients.

  This similarity in diseases, along with comparative mapping studies, led Monica Justice of ORNL's Life Sciences Division and collaborators at the University of Utah and Millenium Pharmaceuticals to hunt down the mouse gene in the hopes of using it to discover the cause of the human disease. This team of researchers succeeded in identifying the disease gene in mice, and used the mouse gene to identify the human gene.

  Currently, the identification of the human gene has resulted in discovering the cause of the clinical symptoms in humans, and the mouse model will be used to examine more effective treatments of the disease.

Contact: Monica J. Justice
Telephone: 423-574-0700
E-mail: justicem@bioax1.bio.ornl.gov