Fernando Jose Benavides, Ph.D.
Present Title & Affiliation
Associate Professor and Director, Genetic Services, The University of Texas MD Anderson Cancer Center, Department of Carcinogenesis, Smithville, TX
- Forward genetics (positional cloning of mouse mutations)
- Mouse models
- Skin biology
The overall goal of our research is to identify genes responsible for mutant phenotypes in the mouse and, at the same time, to define new mouse models. As part of our positional cloning and phenotyping projects, we have been studying spontaneous mouse mutations with skin phenotypes, trying to identify genes important for skin and hair follicle biology.
As part of these studies we have shown that one of theses mutations (nackt) comprises a deletion in the cathepsin L gene, and found that CTSL is important for hair follicle morphogenesis and epidermal differentiation. Using this model, we found a paradoxical protective role of CTSL in mouse skin carcinogenesis. Also, we have recently identified two spontaneous recessive mutation that affect the Ass1 (argininosuccinate synthetase 1) gene. The phenotype of homozygous mice includes severe retardation in post-natal development, alopecia with scaly skin, ataxia and circling behavior, a complex phenotype that is virtually identical to the human Citrullinemia type I, a rare inherited disorder caused by deficiency of the ASS enzyme.
In addition, we have successfully identified the luca mutation (loss of hair and irritated skin) as a premature stop codon in the Zdhhc13 gene. Another project deals with the development of a new genetically defined hairless inbred strain (SKHIN). This will represent a unique tool for the study of the underlying genetic basis of UV-induced skin carcinogenesis.
View a complete list of publications.