Autism risk variants in DLG4 ortholog increase penetrance of uncommon individual behavioral trait in Caenorhabditis elegans

DLG4同源基因中的自闭症风险变异会增加秀丽隐杆线虫中罕见个体行为特征的外显率

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Abstract

Autism is a largely neurogenetic condition characterized by atypical behaviors, including increased prevalence of motor stereotypies. We used Caenorhabditis elegans to model the T611I variant in the DLG4 ortholog dlg-1 . During phenotyping, we found that some worms intersperse typical dorsoventral swimming bends with left-right bends, resembling an orchestra conductor's arm motions. Conducting behavior occurred in 30% of wild-type but 50% of dlg-1 mutant worms. The high proportion of conducting in dlg-1 is recessive, rescuable with the wild-type gene, and phenocopied with another DLG4 patient variant. This provides an example of autism variants increasing the proportion of a low-penetrant individual behavior.

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