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NHEJ通路缺陷与原发性免疫缺陷病 被引量:1

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摘要 非同源末端连接(nonhomologous DNA end joining,NHEJ)是人和哺乳动物细胞DNA双链断裂(DSBs)修复的主要通路,如该通路蛋白因子缺陷使DNA损伤不能得到及时修复,将导致VDJ重组障碍和(或)免疫球蛋白类别转换重组缺陷,致联合免疫缺陷、染色体不稳定、细胞死亡及肿瘤等疾病发生。
出处 《中华儿科杂志》 CAS CSCD 北大核心 2015年第12期962-966,共5页 Chinese Journal of Pediatrics
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  • 1l,ieber MR, Ma Y, Pannicke U, et al. Mechanism and regulation of human non-homologous DNA end-joining[ J]. Nat Rev Mol Cell Biol ,2003,4(9) :712-720.
  • 2Dai Y, Kysela B, Hanakahi LA, et al. Nonhomologous end joining and V (1)) J recombination iquire an additional factor[ J ]. Proc Natl Acad Sci U S A, 2003,100(5) :2462-2467.
  • 3O'Driscoll M, GenneJy AR, Seidel J, et al. An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SC1D and ATR-Scckel syndrome[ J ]. DNA Repair (Amst) , 2004,3 ( 8 ) : 1227-1235.
  • 4Riba|lo E, Kuhne M, Rief N, et al. A pa|hway of double-straml break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci[J]. Mol Cell , 2004, 16(5) :715-724.
  • 5Rogakou EP, Pilch DR, Orr AH, eta]. DNA double-stranded breaks induce histone H2AX phosphoiTlation on serine 139 [ J]. J Biol Chem, 1998, 273(10) :5858-5868.
  • 6van dcr Burg M, van Veelen LR, Verkaik NS, et al. A new type of radinsensitive T-B-NK + seve combined immunodefieien<y caused by a LIG4 mutation[J]. J Clin Invest, 2006, 116( 1 ) : 137-145.
  • 7Enders A, Fisch P, Schwarz K, et al. A severe form of human combined innnunndeficiency due to mutations in DNA ligase lV [J]. J Immunol, 2006, 176(8):5060-5068.
  • 8Dn L, Peng R, gjorkman A, et al. Cernunnos inf[uences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis [ J ]. J Exp Med, 2012, 209 (2) : 291-305.
  • 9Buck D, Malivcrt L, de Chasseval R, et al. Cernunnos, a novel nmlhomologous end-joining factor, is mutated in human immunodeficicncy with microcephaly[ J ]. Cell, 2006, 124 (2) : 287 -299.
  • 10LI L, MoshousD, Zhou Y, et al. A founder mutation in Artemis, an SNMl-like protein, causes SCID in Athal)asean-speaking Native Americans [ J ], J Immunol, 2002, 168 ( 12 ) :6323-6329.

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