RAD52编码蛋白是参与RAD51介导的DNA重组和修复的重组酶蛋白。RAD52与RAD51结合,通过配对同源单链和双链DNA促进同源重组(HR)期间的链交换。研究表明,RAD52可以帮助将RAD51募集到双链断裂(DSB)基因座或形成RAD51核蛋白丝。尽管RAD51敲除在小鼠中是胚胎致死的,但小鼠或人细胞系中RAD52的消耗不会产生致死或DSB敏感表型。然而,临床前研究表明,缺乏BRCA2,BRCA1,RAD51旁系同源物或PALB2的细胞中RAD52的失活导致合成致死,表明RAD52在RAD51介导的HR修复途径中具有多余功能。在家族性乳腺癌和卵巢癌中发现了罕见的RAD52胚系变异,然而人类癌症中的体细胞中很少发现RAD52突变
RAD52 is a recombinase protein involved in RAD51-mediated DNA recombination and repair. RAD52 binds to RAD51, promoting strand exchange during homologous recombination (HR) by pairing of homologous single- and double-stranded DNA. Biochemical studies suggest RAD52 may help recruit RAD51 to double-stranded break (DSB) loci or form RAD51 nucleoprotein filaments . Whereas RAD51 knockout is embryonic lethal in mice, depletion of RAD52 in mice or human cell lines does not render a lethal or DSB-sensitive phenotype. However, preclinical studies show that inactivation of RAD52 in cells lacking BRCA2, BRCA1, RAD51 paralogs or PALB2 results in synthetic lethality indicating that RAD52 has redundant function in RAD51-mediated HR repair pathways. Rare germline RAD52 variants have been found in familial breast and ovarian cancer, however somatic RAD52 mutations in human cancers are infrequent.
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