Pseudomitochondrial genome haunts disease studies

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	Pseudomitochondrial genome haunts disease studies
	Yao YG*1; Kong QP 2; Salas A 3; Bandelt HJ 4; ygyaozh@gmail.com
	2008
发表期刊	JOURNAL OF MEDICAL GENETICS
ISSN	0022-2593
卷号	45 期号:12 页码:769-772
摘要	The accidental amplification of nuclear mitochondrial pseudogenes (NUMTs) can pose a serious problem for mitochondrial disease studies. This report shows that the mutation spectrum left by spurious amplification of a NUMT can be detected because it usually differs considerably from the authentic natural spectrum. This study examined the problem introduced by an ND5 gene NUMT that was recorded in a proband with hearing loss and reviews other disease studies erroneously reporting NUMT variation as genuine mutations in their patients. NUMTs can emerge in population genetic studies, as exemplified here by cases in this study and from published sources. Appropriate database searches and a phylogenetic approach can prevent hasty claims for novelty of mitochondrial DNA (mtDNA) variants inadvertently derived from NUMTs and help to direct investigators to the real source.
资助者	YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences.
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收录类别	SCI
语种	英语
资助者	YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences. ; YGY was supported by the ‘‘Century Program’’ (or Hundreds-Talent Program) of the Chinese Academy of Sciences.
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/6007
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室遗传资源与进化国家重点实验室科研部门_分子人类学（孔庆鹏）
通讯作者	ygyaozh@gmail.com
作者单位	1.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 2.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 3.Unidade de Genetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain 4.Department of Mathematics, University of Hamburg, Hamburg, Germany
推荐引用方式 GB/T 7714	Yao YG*,Kong QP,Salas A,et al. Pseudomitochondrial genome haunts disease studies[J]. JOURNAL OF MEDICAL GENETICS,2008,45(12):769-772.
APA	Yao YG*,Kong QP,Salas A,Bandelt HJ,&ygyaozh@gmail.com.(2008).Pseudomitochondrial genome haunts disease studies.JOURNAL OF MEDICAL GENETICS,45(12),769-772.
MLA	Yao YG*,et al."Pseudomitochondrial genome haunts disease studies".JOURNAL OF MEDICAL GENETICS 45.12(2008):769-772.

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