Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the NDS gene not to be pathogenic
文献类型：期刊论文
| 作者 | Kong QP1,2,3; Yao YG1,4; Sun C1,3; Zhu CL1; Zhong L2; Wang CY1,3; Cai WW5; Xu XM6; Xu AL7; Zhang YP[*]1,2 |
| 刊名 | JOURNAL OF HUMAN GENETICS
 |
| 出版日期 | 2004 |
| 卷号 | 49期号:8页码:414-423 |
| 关键词 | mitochondrial DNA haplogroup F2 T12338C ND5 phylogeny east Asian |
| ISSN号 | 1435-232X |
| 通讯作者 | zhangyp1@263.net.cn |
| 合作状况 | 其它 |
| 英文摘要 | In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which substituted methionine in the translational initiation codon of the NADH dehydrogenase subunit 5 gene (ND5) with threonine. This nucleotide change was originally identified in two mtDNAs belonging to haplogroup F2 by our previous complete sequencing of 48 mtDNAs. Since then, a total of 76 F2 mtDNAs have been identified by the variations occurring in the hypervariable segments and coding regions among more than 3,000 individuals across China. As the T12338C change was detected in 32 samples representing various sub-clades of the F2 haplogroup while not in 14 non-F2 controls, we believe that the T12338C change is specific to the F2 haplogroup. As F2 and its sub-clades were widely distributed in normal individuals of various Chinese populations, we conclude that T12338C is not pathogenic. In addition, based on the average distribution frequency, haplotype diversity and nucleotide diversity of haplogroup F2 in the populations across China, the T12338C nucleotide substitution seems to have been occurred in north China about 42,000 years ago. Our results provided a good paradigm for distinguishing a polymorphic change from a pathogenic mutation based on mtDNA phylogeny. |
| 收录类别 | SCI |
| 资助信息 | The work was supported by the National Key Natural Science Foundation Program of China, Chinese Academy of Sciences (KSCX2-SW-2010), Natural Science Foundation of China (NSFC), and Natural Science Foundation of Yunnan Province. |
| 原文出处 | 200449414.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/4127]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_分子人类学 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_细胞与分子进化开放实验室 |
| 作者单位 | 1.Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China 2.Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming, 650091, China 3.Graduate School of the Chinese Academy of Sciences, Beijing, 100039, China 4.Present address:The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA 5.Department of Biochemistry, Hainan Medical College, Haikou, 571101, China 6.Department of Medical Genetics, First Military Medical University, Guangzhou, 510515, China 7.College of Life Sciences, Zhongshan University, Guangzhou, 510275, China |
| 推荐引用方式 GB/T 7714 | Kong QP,Yao YG,Sun C,et al. Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the NDS gene not to be pathogenic[J]. JOURNAL OF HUMAN GENETICS,2004,49(8):414-423. |
| APA | Kong QP.,Yao YG.,Sun C.,Zhu CL.,Zhong L.,...&Zhang YP[*].(2004).Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the NDS gene not to be pathogenic.JOURNAL OF HUMAN GENETICS,49(8),414-423. |
| MLA | Kong QP,et al."Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the NDS gene not to be pathogenic".JOURNAL OF HUMAN GENETICS 49.8(2004):414-423. |
入库方式： OAI收割
来源：昆明动物研究所
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