DDR相关蛋白缺陷引起的原发性免疫缺陷表型研究进展  

Progress in DDR Protein Defect-induced Primary Immunodeficiency Phenotypes

作　　者：曾宪思[1,2] 贾金婧[1] 陈磊[1] 余亚军 宋新强[1] ZENG Xiansi;JIA Jinjing;CHEN Lei;YU Yajun;SONG Xinqiang(College of Life Sciences,Xinyang Normal University,Xinyang 464000,China;Institute for Conservation and Utilization of Agro-bioresources in Dabie Mountains,Xinyang Normal University,Xinyang 464000,China;Forestry Workstation in Xinyang,Xinyang 464000,China)

机构地区：[1]信阳师范学院生命科学学院,河南信阳464000 [2]信阳师范学院,大别山农业生物资源保护与利用研究院,河南信阳464000 [3]信阳市林业工作站,河南信阳464000

出　　处：《信阳师范学院学报（自然科学版）》2018年第2期339-344,共6页Journal of Xinyang Normal University(Natural Science Edition)

基　　金：国家自然科学基金项目(31600837);河南省科技计划项目(172102310622);河南省高等学校重点科研项目(16A180017,16A180018)

摘　　要：在细胞内可变区基因(多样化基因)连接区基因片段重组(variable(diversity)joining recombination,V(D)J)与免疫球蛋白的类别转换重组(class switch recombination,CSR)过程中会产生程序性DNA双链断裂(DNA double strand break,DSB).当检测到DSB发生时DNA损伤反应(DNA damage response,DDR)被启动.DDR缺陷的病人具有原发性免疫缺陷表型(primary immunodeficiency,PID).总结了V(D)J重组与CSR产生DDR的分子机制,综述了V(D)J重组与CSR过程中DDR相关蛋白缺陷引起的原发性免疫缺陷表型.Programmed DNA double strand breaks(DSB)are generated during V(D)J recombination and class switch recombination(CSR)of immunoglobulin.DNA damage response(DDR)is initiated when DSB are detected.The patients with DDR defect present phenotype of primary immunodeficiency(PID).This article will mainly focus on phenotypes of PID due to impaired DDR,firstly summarizing the mechanism of V(D)J recombination and CSR-induced DDR,then reviewing the PID phenotypes induced by DDR protein defect in V(D)J recombination and CSR.

关 键 词：V(D)J重组 类别转换重组 DNA损伤反应 原发性免疫缺陷表型 

分 类 号：Q28[生物学—细胞生物学]