Duplication of GTF2I results in separation anxiety in mice and humans.
作者： Carolyn B. Mervis , Joana Dida , Emily Lam , Nicole A. Crawford-Zelli , Edwin J. Young
DOI: 10.1016/J.AJHG.2012.04.012
关键词:
摘要: Duplication (dup7q11.23) and deletion (Williams syndrome) of chromosomal region 7q11.23 cause neurodevelopmental disorders with contrasting anxiety phenotypes. We found that 30% 4- to 12-year-olds dup7q11.23 but fewer than 5% children WS or in the general population met diagnostic criteria for a separation-anxiety disorder. To address role one commonly duplicated deleted gene separation anxiety, we compared mice had varying numbers Gtf2i copies. Relative mouse pups two copies, additional copies showed significantly increased maternal separation-induced as measured by ultrasonic vocalizations. This study links copy number single from both humans, highlighting utility models dissecting specific functions genomic span many genes. also offers insight into molecular pathways might enable development targeted therapeutics.
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