Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.
Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.
复制标题
精神分裂症患者PDZD2、GOLPH3、MTMR12基因突变筛查。
DOI：
10.1097/ypg.0b013e3283463dd7
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发表时间：
2012
影响因子：
0.9
通讯作者：
Bespalova,IrinaN
中科院分区：
文献类型：
--
作者：
Ritter,BenjaminP;Angelo,GaryW;Durner,Martina;Rossy-Fullana,Enrique;Carrion-Baralt,Jose;Silverman,JeremyM;Bespalova,IrinaN
早些时候，我们在5p13号染色体上发现了一个与精神分裂症有关的区域，该区域来自一个起源于西班牙的遗传分离的波多黎各大家系(Silverman等人，1996年)。使用全基因组扫描和精细定位，我们将最小连锁区(MLR)缩小到2.8Mb，并检测到该家族所有受影响成员共享的“高危”单倍型(Bespalova等人，2005年)。MLR包含13个注释基因。在这项研究中，我们对MLR端粒区域的三个基因进行了突变分析：PDZ结构域包含蛋白(PDZD2)，高尔基磷蛋白(GOLPH3)和肌管蛋白相关蛋白(MTMR12)。PDZD2基因在包括脑在内的多个组织中表达。编码的蛋白质参与中枢神经系统的突触传递，并可能影响与精神分裂症相关的γ-氨基丁酸B型的稳定性和功能(Mizukami等人，2002年；Balasubramanian等人，2007年)。几项研究发现，在精神分裂症患者的线粒体功能障碍期间，从宫颈癌细胞衍生的人类细胞系中发现GOLPH3编码蛋白的数量增加(Nakashima-Kamimura等人，2005年；Wood等人，2009年)。MTMR12基因的功能尚不清楚。
We earlier identified a region on chromosome 5p13 associated with schizophrenia in a large Puerto Rican pedigree from a genetic isolate of Spanish origin (Silverman et al., 1996). Using a whole genome scan followed by fine mapping, we narrowed the minimal linkage region (MLR) to 2.8 Mb, and detected the ‘at-risk’haplotype shared by all affected members of the family (Bespalova et al., 2005). The MLR contains 13 annotated genes. In this study, we carried out mutation analysis of three genes from the telomeric region of the MLR in affected members of the pedigree: the PDZ domain-containing protein (PDZD2), the golgi phosphoprotein (GOLPH3), and the myotubularin related protein (MTMR12).The PDZD2 gene is expressed in several tissues including the brain. The encoded protein is involved in synaptic transmission in the central nervous system, and may influence stability and function of γ-aminobutyric acidtype B associated with schizophrenia (Mizukami et al., 2002; Balasubramanian et al., 2007). The increased amount of the GOLPH3-encoded protein was found in human cell line derived from cervical cancer cells during a mitochondrial dysfunction, which was reported in schizophrenia by several studies (Nakashima-Kamimura et al., 2005; Wood et al., 2009). The function of the MTMR12 gene is unknown.