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DNA双链断裂修复与重症联合免疫缺陷 被引量:1

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摘要 DNA双链断裂(double-strand breaks,DSBs)是细胞DNA损伤的主要类型,它的修复通过同源重组(HR)和非同源末端连接(NHEJ)两种机制实现。NHEJ是人和哺乳动物细胞DSBs修复的重要通路,主要由DNA依赖性蛋白激酶(DNA-PK)、X射线修复交叉互补蛋白4(XRCC4)、DNA连接酶IV、Artemis、XLF/Cernunnos和其它DNA损伤修复辅助因子组成。本文重点介绍了NHEJ机制主要成分的特性及其功能,以及这些组分的基因发生突变或缺失所引起的DSBs修复缺陷与辐射敏感性重症联合免疫缺陷(radiosensitive severe combined immunodeficiencies,RS-SCIDs)。
出处 《生理科学进展》 CAS CSCD 北大核心 2008年第2期182-184,共3页 Progress in Physiological Sciences
基金 河南省科技攻关计划(0624410029) 河南省教育厅自然科学基金(2006180015) 河南省重点学科(动物学)基金 河南师范大学重点学科(生物化学和分子生物学)基金资助课题
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参考文献10

  • 1黄敏,缪泽鸿,丁健.DNA双链断裂损伤修复系统研究进展[J].生理科学进展,2007,38(4):295-300. 被引量:13
  • 2Burma S, Chen BP, Chen DJ. Role of non-homologous end joining (NHEJ) in maintaining genomic integrity. DNA Repair (Amst), 2006, 5 : 1042-1048.
  • 3Niewolik D, Pannicke U, Lu H, et al. DNA-PKcs dependence of Artemis endonucleolytic activity, differences between hairpins and 5'or 3'overhangs. J Biol Chem, 2006, 281 : 33900 - 33909.
  • 4Drouet J, Frit P, Deheil C, et al. Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends. J Biol Chem, 2006, 281 : 27784-27793.
  • 5Ahnesorg P, Smith P, Jackson SP. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell, 2006, 124 : 301 -313.
  • 6Hentges P, Ahnesorg P, Pitcher RS, et al. Evolutionary and functional conservation of the DNA non-homologous end-joining protein, XLF/Cernunnos. J Biol Chem, 2006, 281 : 37517 - 37526.
  • 7Buck D, Moshous D, de Chasseval R, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol, 2006, 36 : 224- 235.
  • 8van der Burg M, van Veelen LR, Verkaik NS, et al. A new type of radiosensitive T^- B^- NK^+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest, 2006, 116 : 137- 145.
  • 9Revy P, Malivert L, de Villartay JP. Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system. Curr Opin Allergy Clin Immunol, 2006, 6 : 416 -420.
  • 10Darroudi F, Wiegant W, Meijers M, et al. Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle. Mut Res, 2007, 615 : 111 -124.

二级参考文献20

  • 1Pommier Y. Topoisomerase I inhibitors: camptothecins and beyond. Nat Rev Cancer, 2006, 6 : 789 -802.
  • 2Rogakou EP, Pilch DR, Orr AH, et al. DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139. J Biol Chem, 1998, 273 : 5858 -5868.
  • 3Jackson SP. Sensing and repairing DNA double-strand breaks. Carcinogenesis, 2002, 23 : 687 -696.
  • 4Haber JE. Partners and pathways repairing a double-strand break. Trends Genet, 2000, 16 : 259 -264.
  • 5Sorensen CS, Hansen LT, Dziegielewski J, et al. The cellcycle checkpoint kinase Chkl is required for mammalian homologous recombination repair. Nat Cell Biol, 2005, 7 : 195 - 201.
  • 6Cousineau I, Abaji C, Belmaaza A. BRCA1 regulates RAD51 function in response to DNA damage and suppresses spontaneous sister chromatid replication slippage: implications for sister chromatid cohesion, genome stability, and carcinogenesis. Cancer Res, 2005, 65 : 11384 - 11391.
  • 7Bertrand P, Saintigny Y, Lopez BS. p53's double life: transactivation-independent repression of homologous recombination. Trends Genet, 2004, 20 : 235 -243.
  • 8Arias-Lopez C, Lazaro-Trueba I, Kerr P, et al. p53 modulates homologous recombination by transcriptional regulation of the RAD51 gene. EMBO Rep, 2006, 7 : 219 -224.
  • 9Reddy YV, Ding Q, Lees-Miller SP, et al. Non-homologous end joining requires that the DNA-PK complex undergo an autophosphorylation-dependent rearrangement at DNA ends. J Biol Chem,2004, 279 : 39408 - 39413.
  • 10Block WD, Yu Y, Merkle D, et al. Autophosphorylationdependent remodeling of the DNA-dependent protein kinase catalytic subunit regulates ligation of DNA ends. Nucleic Acids Res, 2004, 32 : 4351 - 4357.

共引文献12

同被引文献23

  • 1LINDAHL T, BARNES D E. Mammalian DNA ligases [J]. Annu Rev Biochem, 1992, 61(3): 251-281.
  • 2LAI X, SHAO H, HAO F, et al. Biochemical characterization of an ATP-dependent DNA ligase from the hyperthermophilic crenarchaeon Sulfolobus shibatae[J]. Extremophiles, 2002, 6 (6): 469-477.
  • 3ABRAVAYA K,CARRLNO J J. Detection of point mutations with a modified ligase chain reaction (Gap-LCR)[J]. Nucleic Acids Res, 1995,23(3) : 675-682.
  • 4KHANNA M,CAO W G. Ligase detection reaction for identification of low abundance mutations[J]. Clinical Biochemistry, 1999,32(4) : 287-290.
  • 5MAI V, CHEN X, HONG R, et al. Small abundant DNA binding protein from the thermoacidophilic archaeon Sufolobus shibatae contain negative DNA supercoils[J]. J Bacteriol, 1998, 180(9) : 2560-2563.
  • 6XUE H, GUO R, WEN Y, et ol. Anbundant DNA binding protein from the hyperthermophilic archaeon Sufolobus shibatae affects DNA supereoiling in a temperature-depent fashion[J]. J Baeteriol, 2000,182(14) : 3929-3933.
  • 7LEHMAN I R. DNA ligase: structure, mechanism, and function[J]. Science, 1974,186(4166): 790-797.
  • 8NILSSON M, BARBANY G, ANTSON D O, et al. Enhanced detection and distinction of RNA by enzymatic probe ligation [J]. Nat Biotechnol, 2000, 18 (4) : 791-793.
  • 9NILSSON M, ANTSON D O, BARBANY G, et al. RNA-template DNA ligation for transcript analysis[J]. Nucleic Acids Res, 2001, 29(2): 578-581.
  • 10SRISKANDA V, KELMAN Z, HURWITZ J, et al. Characterization of an ATP dependent DNA ligase from the thermophilic archaeon Methanobacterium thermoautotrophicum [J]. Nucleic Acids Res, 2000, 28(11): 2221-2228.

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