Mitochondrial DNA mutations in single human blood cells
文献类型：期刊论文
| 作者 | Yao YG[*]1; Kajigaya S2; Young NS2 |
| 刊名 | MUTATION RESEARCH
 |
| 出版日期 | 2015 |
| 卷号 | 779期号:X页码:68-77 |
| 关键词 | Hematopoietic stem cells Mutation Single cell analysis mtDNA |
| 通讯作者 | yaoyg@mail.kiz.ac.cn |
| 合作状况 | 其它 |
| 英文摘要 | Determination mitochondrial DNA (mtDNA) sequences from extremely small amounts of DNA extracted from tissue of limited amounts and/or degraded samples is frequently employed in medical, forensic, and anthropologic studies. Polymerase chain reaction (PCR) amplification followed by DNA cloning is a routine method, especially to examine heteroplasmy of mtDNA mutations. In this review, we compare the mtDNA mutation patterns detected by three different sequencing strategies. Cloning and sequencing methods that are based on PCR amplification of DNA extracted from either single cells or pooled cells yield a high frequency of mutations, partly due to the artifacts introduced by PCR and/or the DNA cloning process. Direct sequencing of PCR product which has been amplified from DNA in individual cells is able to detect the low levels of mtDNA mutations present within a cell. We further summarize the findings in our recent studies that utilized this single cell method to assay mtDNA mutation patterns in different human blood cells. Our data show that many somatic mutations observed in the end-stage differentiated cells are found in hematopoietic stem cells (HSCs) and progenitors within the CD34+ cell compartment. Accumulation of mtDNA variations in the individual CD34+ cells is affected by both aging and family genetic background. Granulocytes harbor higher numbers of mutations compared with the other cells, such as CD34+ cells and lymphocytes. Serial assessment of mtDNA mutations in a population of single CD34+ cells obtained from the same donor over time suggests stability of some somatic mutations. CD34+ cell clones from a donor marked by specific mtDNA somatic mutations can be found in the recipient after transplantation. The significance of these findings is discussed in terms of the lineage tracing of HSCs, aging effect on accumulation of mtDNA mutations and the usage of mtDNA sequence in forensic identification. |
| 收录类别 | SCI |
| 资助信息 | We thank the two anonymous reviewers for their critical com- ments on the early version of the manuscript. Y.-G. Y. was supported by the MOST of China (2011CB910902) and the National Natural Science Foundation of China (31171225 and 30925021). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/9339]  |
| 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 Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA |
| 推荐引用方式 GB/T 7714 | Yao YG[*],Kajigaya S,Young NS. Mitochondrial DNA mutations in single human blood cells[J]. MUTATION RESEARCH,2015,779(X):68-77. |
| APA | Yao YG[*],Kajigaya S,&Young NS.(2015).Mitochondrial DNA mutations in single human blood cells.MUTATION RESEARCH,779(X),68-77. |
| MLA | Yao YG[*],et al."Mitochondrial DNA mutations in single human blood cells".MUTATION RESEARCH 779.X(2015):68-77. |
入库方式： OAI收割
来源：昆明动物研究所
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