Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
复制标题
DOI：
10.1002/ajmg.b.30229
复制
发表时间：
2006-01-05
影响因子：
2.8
通讯作者：
Bourgeron, T
中科院分区：
文献类型：
--
作者：
Durand, CM;Kappeler, C;Bourgeron, T
突触发生，即功能性突触的形成，是中枢神经系统发育的关键步骤。参与这一过程的基因包括细胞粘附分子，例如原钙粘蛋白和神经连接蛋白，它们是识别适当的伙伴细胞和形成突触的重要因素。在这项工作中，我们研究了分别位于 X 和 Y 染色体上的原钙粘蛋白家族 PCDH11X/Y 两个密切相关的成员的表达和遗传变异性。 PCDH11Y 是人科动物谱系特有的稀有基因之一，在其他灵长类动物中不存在。表达分析表明PCDH11X/Y基因的转录本主要在人脑皮质中检测到。对 30 名自闭症患者的突变筛查发现了两个 PCDH11Y 多态性氨基酸变化：F885V 和 K980N。这些变异是完全相关的，在大约 40,000 年前的人类进化过程中出现，代表了研究人群中 Y 染色体变异的信息多态性。我们研究了患有自闭症谱系障碍 (n = 110)、注意缺陷多动障碍 (ADHD; n = 61)、双向情感障碍 (n = 61)、强迫症 (n = 51) 或精神分裂症 (n = 61) 的男性中这些变异的频率，并观察到与种族匹配的对照人群相比没有显着差异。或者更一般地说，与这些神经精神疾病的易感性有关的常见的特定 Y 染色体。 (C) 2005 Wiley-Liss, Inc.
Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the genetic variability of two closely related members of the protocadherin family PCDH11X/Y, located on the X and the Y chromosome, respectively. PCDH11Y is one of the rare genes specific to the hominoid lineage, being absent in other primates. Expression analysis indicated that transcripts of the PCDH11X/Y genes are mainly detected in the cortex of the human brain. Mutation screening of 30 individuals with autism identified two PCDH11Y polymorphic amino acid changes, F885V and K980N. These variations are in complete association, appeared during human evolution approximately 40,000 years ago and represent informative polymorphisms to study Y chromosome variability in populations. We studied the frequency of these variants in males with autism spectrum disorders (n = 110), attention deficit hyperactivity disorder (ADHD; n = 61), bipolar disorder (n = 61), obsessive-compulsive disorder (n = 51), or schizophrenia (n = 61) and observed no significant differences when compared to ethnically-matched control populations. or more generally of a frequent specific Y chromosome, in the susceptibility to these neuropsychiatric disorders. (C) 2005 Wiley-Liss, Inc.