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The functionalanalysis of the Pericentriolar material 1 (PCM1), one of the candidate genes of schizophrenia at synapse

精神分裂症候选基因之一突触中心粒周围物质1（PCM1）的功能分析

基本信息

批准号：
22791125
负责人：
TAKAKI Manabu
金额：
$ 2.58万
依托单位：
Okayama University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Young Scientists (B)
财政年份：
2010
资助国家：
日本
起止时间：
2010 至 2012
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22791125/
关键词：
統合失調症臨床精神分子遺伝学 Pericentriolar material 1 (PCM1)シナプス Bardet-Biedl syndrome (BBS)The human Rho guanine nucleotide exchange factor 11 (ARHGEF11)PSD-95 PCM1 ARHGEF11 BBS4 2型糖尿病認知機能機能解析クロザピン

项目摘要

Four functional polymorphism of the pericentriolar material 1 (PCM1) gene is not associated with the schizophrenia in a Japanese population. The PCM1 protein expresses more in E17 than in adult. The PCM1 protein exists at centrosome until D.I.V. 7 days, diminishes until D.I.V. 14 days, and doesn’t exist on spine in D.I.V. 28 days. The period of expression and the distribution of PCM1 are same with r-tubulin. The human Rho guanine nucleotide exchange factor 11 (ARHGEF11) gene has been reported to be associated with type 2 diabetes mellitus (T2DM). Four polymorphism of ARHGEF11 which was reported to be associated with T2DM were also associated with the paranoid subtype of schizophrenia in a Japanese population. ARHGEF11 has co-localized with PSD95, one of the post synaptic marker. ARHGEF11 may be one of the genetic links between schizophrenia and T2DM and have integrated the synaptic morphology through the interaction withDisrupted-In-Schizophrenia-1 (DISC-1).

在日本人群中，PCM 1基因的四种功能多态性与精神分裂症无关。PCM 1蛋白在E17中的表达高于成体。在D. I. V.第7天，PCM 1蛋白仍存在于中心体，D. I. V.第14天，PCM 1蛋白逐渐减少，D. I. V.第28天，PCM 1蛋白在棘上消失。PCM 1的表达周期和分布与r-微管蛋白相同。人Rho鸟嘌呤核苷酸交换因子11（ARHGEF 11）基因已被报道与2型糖尿病（T2 DM）相关。ARHGEF 11的4个多态性与2型糖尿病相关，也与日本人群中精神分裂症的偏执亚型相关。ARHGEF 11与突触后标记物PSD 95共定位。ARHGEF 11可能是精神分裂症和T2 DM之间的遗传联系之一，并通过与分裂症内干扰蛋白1（Disrupted-In-Schizophrenia-1，DISC-1）的相互作用整合了突触形态。