Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia
文献类型：期刊论文
| 作者 | Bi R1; Tang JS2; Yu DD1; Chen XG2; Yao YG[*]1,4; Zhang W1; Li X1,3; Chen SY1 |
| 刊名 | SCHIZOPHRENIA RESEARCH
 |
| 出版日期 | 2016 |
| 卷号 | 171期号:1-3页码:200-206 |
| 关键词 | Schizophrenia mtDNA Maternal inheritance Private variant Allotopic expression |
| 通讯作者 | yaoyg@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m. 15395 A>G and m. 8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m. 15395 A>G and m. 8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease. |
| 收录类别 | SCI |
| 资助信息 | The work was supported by the National Natural Science Foundation of China (31171225 and 31000557) and the Strategic Priority Research Program (B) of the Chinese Academy of Sciences (XDB02020003). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10315]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.Institute of Mental Health, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650204, China 4.CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China |
| 推荐引用方式 GB/T 7714 | Bi R,Tang JS,Yu DD,et al. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia[J]. SCHIZOPHRENIA RESEARCH,2016,171(1-3):200-206. |
| APA | Bi R.,Tang JS.,Yu DD.,Chen XG.,Yao YG[*].,...&Chen SY.(2016).Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.SCHIZOPHRENIA RESEARCH,171(1-3),200-206. |
| MLA | Bi R,et al."Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia".SCHIZOPHRENIA RESEARCH 171.1-3(2016):200-206. |
入库方式： OAI收割
来源：昆明动物研究所
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