The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies

CORC > 昆明动物研究所 > 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 > 重大疾病机理的遗传学

	The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies
	Bandelt HJ[*]1; Kloss-Brandstatter A 2; Richards MB 3; Yao YG 4; Logan I 5
刊名	JOURNAL OF HUMAN GENETICS
	2014
卷号	59 期号:2 页码:66-77
关键词	error spectrum mtDNA notation rCRS
通讯作者	bandelt@yahoo.com
合作状况	其它
英文摘要	Since the determination in 1981 of the sequence of the human mitochondrial DNA (mtDNA) genome, the Cambridge Reference Sequence (CRS), has been used as the reference sequence to annotate mtDNA in molecular anthropology, forensic science and medical genetics. The CRS was eventually upgraded to the revised version (rCRS) in 1999. This reference sequence is a convenient device for recording mtDNA variation, although it has often been misunderstood as a wild-type (WT) or consensus sequence by medical geneticists. Recently, there has been a proposal to replace the rCRS with the so-called Reconstructed Sapiens Reference Sequence (RSRS). Even if it had been estimated accurately, the RSRS would be a cumbersome substitute for the rCRS, as the new proposal fuses-and thus confuses-the two distinct concepts of ancestral lineage and reference point for human mtDNA. Instead, we prefer to maintain the rCRS and to report mtDNA profiles by employing the hitherto predominant circumfix style. Tree diagrams could display mutations by using either the profile notation (in conventional short forms where appropriate) or in a root-upwards way with two suffixes indicating ancestral and derived nucleotides. This would guard against misunderstandings about reporting mtDNA variation. It is therefore neither necessary nor sensible to change the present reference sequence, the rCRS, in any way. The proposed switch to RSRS would inevitably lead to notational chaos, mistakes and misinterpretations.
收录类别	SCI
资助信息	We thank Antonio Salas and Walther Parson for their help and support. Y-GY was supported by the National Science Foundation of China (30925021), Top Talents Program of Yunnan Province (2009CI119) and the Chinese Academy of Sciences. We are grateful to Marie Lott and Douglas Wallace for providing information about the case of the ‘Yoruban mtDNA reference’.
语种	英语
WOS记录号	WOS:000332019700003
公开日期	2014-04-04
内容类型	期刊论文
源URL	[http://159.226.149.42:8088/handle/152453/7835]
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.Department of Mathematics, University of Hamburg, Hamburg, Germany 2.Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria 3.School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield, UK 4.Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China 5.Exmouth, Devon, UK
推荐引用方式 GB/T 7714	Bandelt HJ[*],Kloss-Brandstatter A,Richards MB,et al. The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies[J]. JOURNAL OF HUMAN GENETICS,2014,59(2):66-77.
APA	Bandelt HJ[*],Kloss-Brandstatter A,Richards MB,Yao YG,&Logan I.(2014).The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.JOURNAL OF HUMAN GENETICS,59(2),66-77.
MLA	Bandelt HJ[*],et al."The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies".JOURNAL OF HUMAN GENETICS 59.2(2014):66-77.