Our laboratory studies the roles of the nonmuscle myosin 2 (NM2) paralogs (NM2A, NM2B and NM2C) during development as well as in adult health and disease. We are particularly interested in the role that these paralogs play during mouse development as well as the effect of introducing point mutations into the various paralogs to generate mouse models of human diseases. We have shown that introducing three common mutations found in the human syndrome MYH9-RD (MYH9 related diseases) into the mouse NM2A heavy chain (Myh9) phenocopies the syndrome found in humans, which includes macrothrombocytopenia, cataracts, and glomerulonephritis. At present we are studying the cause of a failure in sperm development found in mice that are homozygous for mutations in the rod segment of MYH9.
Introducing a point mutation into mouse NM2B heavy chain (Myh10) results in mice being born with the heart and intestine outside of the thoracic and abdominal wall, resembling the human syndrome Pentalogy of Cantrell. We are presently carrying out whole genome sequencing in an effort to identify the causative gene(s) for this rare group of congenital abnormalities. In addition we are studying the role of NM2A in acting to suppress squamous cell carcinoma formation, the role of NM2A and 2B in mechanotransduction and the mechanism underlying alternative mRNA splicing which plays a role in creating diverse NM2 and Rbfox protein isoforms.
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