My work involves the cloning of translocation breakpoints in patients with autism. The goal is to
identify genes that are disrupted by the breakpoints and then determine whether these genes
contribute to neuropsychiatric phenotypes such as autism. We have cloned AUTS2, a candidate
gene for autism, in a pair of autistic twins with chromosomal translocation of 7q11.2. This gene
appears to be in the vicinity of the Williams syndrome deletion. Williams syndrome patients appear
to age prematurely.
Therefore, we are carrying out experiments to determine the exact location of this gene in relation
to the Williams syndrome deletion. Once this is accomplished it will be reasonable to pursue
further studies examining the role of this gene in aging.
Dr. Villacres is Associate Professor, Department of Psychiatry and Behavioral Sciences, and Research
Affiliate, Center on Human Development and Disability. From 1993 to 1998, he held a Clinical
Investigator Development Award (NINDS).
Selected Relevant Publications
Villacres EC, Hua W, Wu Z, Nielsen MD, Watters JJ, Yan C, Beavo J, Storm DR. Developmentally
expressed CA2+ sensitive adenylyl cyclase activity is disrupted in the brains of type I adenylyl
cyclase mutant mice. J Biol Chem 270:14352-14357, 1995.
Impey S, Mark M, Villacres EC, Poser S, Chavkin C, Storm DR. Induction of CRE-mediated gene
expression by stimuli that generate long-lasting LTP in area CA1 of the hippocampus.
Neuron 16:973-982, 1996.
Villacres EC, Wong S, Chavkin C, Storm DR. Type I adenylyl cyclase mutant mice have impaired
mossy fiber long-term potentiation. J Neurosci 18:3186-3194, 1998.
Hacker BM, Tomlinson JE, Wayman GA, Sultana R, Villacres EC, Disteche C, Storm DR. Cloning,
chromosomal mapping and regulatory properties of the human type 9 adenylyl cyclase (ADCY9).
Genomics 50:97-104, 1998.