NIH Director’s Wednesday Afternoon Lecture Series
Biochemical analysis of the Rhesus blood group antigen led to the serendipitous discovery of AQP1, the first molecular water channel. Found throughout nature, aquaporin water channels confer high water permeability to cell membranes. AQP1 has been characterized biophysically, and the atomic structure of AQP1 is known. Identification of the Colton blood group antigen on the extracellular domain of AQP1 allowed identification of rare individuals who are AQP1-null and manifest a subclinical form of nephrogenic diabetes insipidus. Thirteen homologous proteins exist in humans.
For many years, Dr. Ley's laboratory has used mouse models of acute myeloid leukemia (AML) to establish key principles of AML pathogenesis. The lab established that the initiating event for Acute Promyelocytic Leukemia is the PML-RARA fusion gene created by the t(15;17) that is found in nearly all patients with this disease. The roles of cooperating mutations and the cellular milieu for APL pathogenesis have also been established.
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