Mutation screening and assessment of the effect of genetic variations on expression and RNA editing of serotonin receptor 2C in the human brain
Mutation screening and assessment of the effect of genetic variations on expression and RNA editing of serotonin receptor 2C in the human brain
复制标题
DOI：
10.1111/j.1440-1819.2009.02046.x
复制
发表时间：
2010-01-01
影响因子：
11.9
通讯作者：
Kato, Tadafumi
中科院分区：
文献类型：
--
作者：
Bundo, Miki;Iwamoto, Kazuya;Kato, Tadafumi
目的：5-羟色胺受体 2C (HTR2C) 被认为与双相情感障碍、重度抑郁症和精神分裂症等精神疾病的病因或病理生理学有关。我们之前揭示了精神障碍患者死后大脑中 HTR2C mRNA 表达和 RNA 编辑的改变。在这里，我们检查了人脑中 HTR2C 的遗传变异与表达水平或 RNA 编辑水平之间的关系。 方法：我们通过对用于表达和 RNA 编辑研究的同一队列 (n = 58) 中的所有外显子、外显子-内含子边界和启动子区域进行测序，对 HTR2C 基因进行突变筛查。利用检测到的遗传变异，我们检查了遗传变异与表达或RNA编辑水平之间的关系。结果和结论：我们没有发现患者特有的新突变或单核苷酸多态性。基于基因型和单倍型的分析表明，HTR2C 的遗传变异并不能解释大脑中观察到的 HTR2C 表达或 RNA 编辑水平的改变。
Aim: Serotonin receptor 2C (HTR2C) has been postulated as being involved in the etiology or pathophysiology of mental disorders such as bipolar disorder, major depression and schizophrenia. We previously revealed the altered mRNA expression and RNA editing of HTR2C in the postmortem brains of patients with mental disorders. Here we examined the relationship between genetic variations and expression level or RNA editing level of HTR2C in the human brain.Methods: We performed mutation screening of the HTR2C gene by sequencing all exons, exon-intron boundaries, and promoter region in the same cohort used for expression and RNA editing studies (n = 58). Using the detected genetic variations, we examined the relationship between genetic variations and expression or RNA editing level.Results and conclusion: We did not find novel mutations or single nucleotide polymorphisms that were specific to patients. Genotype and haplotype-based analyses revealed that genetic variations of HTR2C did not account for observed altered expression or RNA editing level of HTR2C in the brain.