A major research emphasis in the Division of Genetics has been the genetic regulation of melanin biosynthesis in the model system of human oculocutaneous albinism.
Clinical, biochemical and molecular studies have provided information for accurate definition and classification of oculocutaneous albinism. Important genes involved in the synthesis and regulation of melanin synthesis have been identified, cloned, and analyzed for mutations responsible for loss of function.
The molecular analyses have led to the current classification of oculocutaneous albinism based on the involved genes rather than the pigment phenotype, and this has aided in family counseling and planning. Current work includes the expression of normal and mutant tyrosinase for biochemical characterization, and for crystallization and three-dimensional structural analysis, to gain insight into basic enzyme biology and mechanisms of dysfunction.
A second area of emphasis for the division involves gene mapping and localization for complex diseases. To accomplish this, a high-throughput automated DNA sequencing laboratory has been established, under the direction of Dr. William Oetting.
Mapping projects have involved breast cancer and myopia in the past and currently involve asthma, as part of a four-center NIH-funded collaborative study. Dr. Malcolm Blumenthal, allergy, is the principal investigator and Drs. King and Oetting are co-investigators on the study. The gene mapping is performed in the division’s laboratory.
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