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DNA聚合酶γ基因突变研究进展 被引量:6

Research Progress of POLG Mutations
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摘要 DNA聚合酶γ(polγ)是已知DNA聚合酶中唯一位于线粒体并参与线粒体DNA复制与修复的酶。POLG的突变可导致其编码的polγ功能异常,从而使线粒体DNA的复制发生障碍,影响线粒体的功能,引起线粒体相关的疾病。目前已发现POLG1基因的致病性突变多达130种,可导致Alpers综合征、渐行性眼外肌麻痹等线粒体疾病。现从DNA聚合酶γ的分子结构及其在线粒体DNA复制与修复中所起到的作用,阐述POLG突变与线粒体疾病的关系,并简要介绍几个常见的突变位点。 DNA polymerase γ(polγ),the only known DNA polymerase in human mitochondria,is essential for mitochondrial DNA(mtDNA)replication and repair.Mutations in POLG may lead to the dysfunctions of polγ,resulting in mitochondrial dysfunctions and disease.About 130 mutations in the human POLG1 have been identified in patients with mitochondrial diseases such as Alpers syndrome,progressive external ophthalmoplegia and so on.Here is to demonstrate the relationship between the mutations of POLG and mitochondrial disease from the structure and functions of DNA polymerase γ,as well as a glimpse on some common mutations of POLG.
作者 丁一宗 李稻
出处 《医学综述》 2012年第3期344-347,共4页 Medical Recapitulate
关键词 DNA聚合酶γ POLG突变 线粒体疾病 DNA polymerase γ POLG mutations Mitochondrial disease
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参考文献23

  • 1Elliott HR,Samuels DC,Eden JA,et al.Pathogenic mitochondrial DNA mutations are common in the general population[J].Am J Hum Genet,2008,83(2):254-260.
  • 2Zhang L,Chan SS,Wolff DJ.Mitochondrial disorders of DNA polymerase γ dysfunction:from anatomic to molecular pathology diagnosis[J].Arch Pathol Lab Med,2011,135(7):925-933.
  • 3Chan SS,Copeland WC.DNA polymerase gamma and mitochondrial disease:understanding the consequence of POLG mutations[J].Biochim Biophys Acta,2009,1787(5):312-319.
  • 4Sweasy JB,Lauper JM,Eckert KA.DNA polymerases and human diseases[J].Radiat Res,2006,166(5):693-714.
  • 5Lee YS,Kennedy WD,Yin YW.Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations[J].Cell,2009,139(2):312-324.
  • 6Pohjoismaki JL,Holmes JB,Wood SR,et al.Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid[J].J Mol Biol,2010,397(5):1144-1155.
  • 7Chan SS,Longley MJ,Copeland WC.The common A467T mutation in the human mitochondrial DNA polymerase(POLG)compromises catalytic efficiency and interaction with the accessory subunit[J].J Biol Chem,2005,280(36):31341-31346.
  • 8Copeland WC,Longley MJ.DNA2 resolves expanding flap in mitochondrial base excision repair[J].Mol Cell,2008,32(4):457-458.
  • 9Longley MJ,Prasad R,Srivastava DK,et al.Identification of 5'-deoxyribose phosphate lyase activity in human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro[J].Proc Natl Acad Sci USA,1998,95(21):12244-12248.
  • 10Hudson G,Chinnery PF.Mitochondrial DNA polymerase-gamma and human disease[J].Human Molecular Genetics,2006,15(2):244-252.

同被引文献52

  • 1关于统一使用慢性高原(山)病“青海标准”的决定[J].高原医学杂志,2007,17(1):1-2. 被引量:69
  • 2施新猷.医用实验动物学[M].北京:人民军医出版社,1999:388.
  • 3Pannen B I-I, A1-Adili F, Bauer M, et al. Role of endothelins and ni- tric oxide in hepatic reperfusion injury in the rat [ J ]. Hepatology, 1998, 27(3) : 755 -764.
  • 4Guo W, Yang D, Xu H, et al. Mutations in the D-loop region and in- creased copy number of mitochondrial DNA in human laryngeal squa- mous cell carcinoma[ J ]. Mol Biol Rep, 2013, 40 (1) : 13 -20.
  • 5Holt I J, Reyes A. Human mitochondrial DNA replication [ J ]. Cold Spring Harb Perspect Biol, 2012, 4(12) : a012971.
  • 6McCormick M A, Tsai S Y, Kennedy B K. TOR and ageing: a com- plex pathway for a complex process [ J ]. Philos Trans R Soc Lond B Biol Sci, 2011, 366(1561) : 17 -27.
  • 7Villa-Cuesta E, Holmbeck M A, Rand D M. Rapamycin increases mitochondrial efficiency by mtDNA-dependent reprogramming of mito- chondrial metabolism in Drosophila[ J]. J Cell Sci, 2014, 127 ( Pt 10) : 2282 -2290.
  • 8Pan T, Rawal P, Wu Y, et al. Rapamycin protects against rotenone- induced apoptosis through autophagy induction [ J ]. Neuroscience, 2009, 164(2) : 541 -551.
  • 9Dai Y, Zheng K, Clark J, et al. Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation[ J]. Hum Mol Genet, 2014, 23(3): 637-647.
  • 10Pejznochova M,Tesarova M,Hansikova H,et al.Mitochondrial DNA content and expression of genes involved in mt DNA transcription,regulation and maintenance during human fetal development[J].Mitochondrion,2010,10(4):321-329.

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