Abstract
Social behavior is crucial for our lives in the society. Alterations in social behavior are associated with numerous psychiatric disorders. Chromosome region 7q11.23 is a region whose deletion and duplication are associated with Williams-Beuren syndrome (WBS) and autism spectrum disorders, respectively, both of which show abnormal social behaviors. Therefore, genes in the region are promising candidates responsible for the formation and function of brain circuitry important for social behavior. Genotype-phenotype correlation analyses of individuals with WBS with atypical deletion have narrowed down the genes responsible for their overly friendly behavior and one of the genes is a transcription factor, Gtf2i. We found that Gtf2i heterozygous mice showed increased social behavior, reminiscent of social behavior observed in individuals with WBS. By analyzing genetically modified mice including Gtf2i heterozygous mice and BAC transgenic mice with extra one copy of Gtf2i, behaviorally and molecularly, we hope to gain insights into mechanisms of the formation and function of brain circuitry responsible for social behavior and mechanisms of how alterations in the Gtf2i copy numbers affect the brain circuitry, leading to altered social behavior.
