Analysis of G-protein coupled receptors as candidate genes for autism

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1) We analyzed secretin gene, secretin receptor (SCRC) gene and gastrin releasing peptide receptor (GRPR) gene for mutation on autism patients.In secretin gene analysis, we found mutations in promoter region that decrease the gene expression, and missense mutations in 5 of 104 patients. However, they were not confirmed as a gene for autism because they were found in control. And there was no secretin gene mutation on the patients of secretin treatment responder.No pathogenic mutation was detected in SCRC and GRPR genes.2) Secretin and SCRC gene knockout mice were developed.For secretin gene knockout mice, all of four exons of secretin gene were replaced with β-galactosidase and neomycine gene. The knockout mice were delivered. For SCRC gene knockout mice, exon 1 was replaced with β-galactosidase and neomycine gene. The knockout mice were established and the absence of SCRC gene expression in knockout homo mice were confirmed by RT-PCR.We are planing to analyze these knockout mice pathologically and biochemically, additon to the behavior analysis.