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More about Genetic Models of Disease Research Program
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Research Interests 1) cha-1 the structural gene for choline acetyltransferase, the enzyme that synthesizes the neurotransmitter acetylcholine; 2) unc-17, the gene that encodes the synaptic vesicle acetylcholine transporter; and 3) cho-1, which encodes the plasma membrane choline high-affinity transporter. The coordinated action of these three proteins is crucial for the rapid and precise regulation of cholinergic function in the nervous system. We have cloned and sequenced the genes required for these processes, identified the specific neurons in which these genes are expressed and studied mutants that are partially or totally deficient in these functions. Related research projects include the genetic, behavioral and molecular analysis of genes encoding the large proteins that provide a "molecular scaffold" for the components of a presynaptic nerve terminal. These proteins not only organize and maintain the structure of the synapse, but they play essential roles in regulating and fine-tuning the synaptic machinery. In addition, we have recently begun to study the molecules involved in synapse formation and the use of C. elegans mutants with aberrant synapse formation as a model for the study of autism and autism spectrum disorders. Joined OMRF Scientific Staff in 1989. Mailing Address
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