Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
文献类型：期刊论文
| 作者 | Kong QP[*]1,2,3; Bandelt HJ4; Sun C1,2,3; Yao YG1; Salas A5; Achilli A6; Wang CY1,2,3; Zhong L2; Zhu CL1; Wu SF1 |
| 刊名 | HUMAN MOLECULAR GENETICS
 |
| 出版日期 | 2006 |
| 卷号 | 15期号:13页码:2076-2086 |
| ISSN号 | 0964-6906 |
| 通讯作者 | kongqp@yahoo.com.cn |
| 合作状况 | 其它 |
| 英文摘要 | Knowledge about the world phylogeny of human mitochondrial DNA (mtDNA) is essential not only for evaluating the pathogenic role of specific mtDNA mutations but also for performing reliable association studies between mtDNA haplogroups and complex disorders. In the past few years, the main features of the East Asian portion of the mtDNA phylogeny have been determined on the basis of complete sequencing efforts, but representatives of several basal lineages were still lacking. Moreover, some recently published complete mtDNA sequences did apparently not fit into the known phylogenetic tree and conflicted with the established nomenclature. To refine the East Asian mtDNA tree and resolve data conflicts, we first completely sequenced 20 carefully selected mtDNAs--likely representatives of novel sub-haplogroups--and then, in order to distinguish diagnostic mutations of novel haplogroups from private variants, we applied a 'motif-search' procedure to a large sample collection. The novel information was incorporated into an updated East Asian mtDNA tree encompassing more than 1000 (near-) complete mtDNA sequences. A reassessment of the mtDNA data from a series of disease studies testified to the usefulness of such a refined mtDNA tree in evaluating the pathogenicity of mtDNA mutations. In particular, the claimed pathogenic role of mutations G3316A, T3394C, A4833G and G15497A appears to be most questionable as those initial claims were derived from anecdotal findings rather than e.g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future. |
| 收录类别 | 其他 |
| 资助信息 | The work was supported by grants from the Natural Science Foundation of Yunnan Province, Natural Science Foundation of China (NSFC, No. 30021004), the Chinese Academy of Sciences (KSCX2-SW-2010), Fondo Investimenti Ricerca di Base 2001 and Fondazione Cariplo (to A.T.), the National Key Technologies R&D Program of China and the Science and Technology Committee of Yunnan Province (2005NG07). |
| 原文出处 | 2006152076.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/4779]  |
| 专题 | 昆明动物研究所_分子人类学 昆明动物研究所_分子进化基因组学 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.Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany 5.Unidad de Gene´tica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, and Centro Nacional de Genotipado (CeGen), Hospital Clı ´nico Universitario, 15706 Galicia, Spain 6.Dipartimento di Genetica e Microbiologia, Universita` di Pavia, 27100 Pavia, Italy |
| 推荐引用方式 GB/T 7714 | Kong QP[*],Bandelt HJ,Sun C,et al. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations[J]. HUMAN MOLECULAR GENETICS,2006,15(13):2076-2086. |
| APA | Kong QP[*].,Bandelt HJ.,Sun C.,Yao YG.,Salas A.,...&Zhang YP[*].(2006).Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations.HUMAN MOLECULAR GENETICS,15(13),2076-2086. |
| MLA | Kong QP[*],et al."Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations".HUMAN MOLECULAR GENETICS 15.13(2006):2076-2086. |
入库方式： OAI收割
来源：昆明动物研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。