CHED 1066 |
| The SNAREs, a large family of membrane associated proteins, are critical for Ca2+ mediated synaptic vesicle release. A causal mutation in the SNARE domain containing, vesicle associated membrane protein 1 (Vamp1), in the mouse neurological mutant lethal wasting (lew) leads to pre-wean lethality and a wasting phenotype. A positional cloning strategy was used to identify the disease associated gene. Candidate genes were screened by quantitative RT-PCR, and Vamp1 mRNA was found to be significantly down-regulated in mutant brain tissue. Subsequently, a nonsense mutation was identified in the coding region of the gene. This mutation is predicted to truncate approximately half of the protein; however, western blot analysis showed that in the mutant no protein is made. Vamp1 is selectively expressed in the retina and in discrete areas of the brain. Taken together these data indicate that Vamp1 has a vital role in a subset of CNS tissues. |
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Undergraduate Research Poster Session: Biochemistry
2:00 PM-4:00 PM, Monday, March 26, 2007 Hyatt Regency Chicago -- Riverside Center, Poster
Division of Chemical Education |