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与参与DNA修复和重组的酵母基因RAD52同源的人类和小鼠基因的克隆。

Cloning of human and mouse genes homologous to RAD52, a yeast gene involved in DNA repair and recombination.

作者信息

Muris D F, Bezzubova O, Buerstedde J M, Vreeken K, Balajee A S, Osgood C J, Troelstra C, Hoeijmakers J H, Ostermann K, Schmidt H

机构信息

Department of Radiation Genetics and Chemical Mutagenesis, State University of Leiden, The Netherlands.

出版信息

Mutat Res. 1994 Nov;315(3):295-305. doi: 10.1016/0921-8777(94)90040-x.

Abstract

The RAD52 gene of Saccharomyces cerevisiae is required for recombinational repair of double-strand breaks. Using degenerate oligonucleotides based on conserved amino acid sequences of RAD52 and rad22, its counterpart from Schizosaccharomyces pombe, RAD52 homologs from man and mouse were cloned by the polymerase chain reaction. DNA sequence analysis revealed an open reading frame of 418 amino acids for the human RAD52 homolog and of 420 amino acid residues for the mouse counterpart. The identity between the two proteins is 69% and the overall similarity 80%. The homology of the mammalian proteins with their counterparts from yeast is primarily concentrated in the N-terminal region. Low amounts of RAD52 RNA were observed in adult mouse tissues. A relatively high level of gene expression was observed in testis and thymus, suggesting that the mammalian RAD52 protein, like its homolog from yeast, plays a role in recombination. The mouse RAD52 gene is located near the tip of chromosome 6 in region G3. The human equivalent maps to region p13.3 of chromosome 12. Until now, this human chromosome has not been implicated in any of the rodent mutants with a defect in the repair of double-strand breaks.

摘要

酿酒酵母的RAD52基因是双链断裂重组修复所必需的。基于RAD52和粟酒裂殖酵母的对应基因rad22的保守氨基酸序列设计简并寡核苷酸,通过聚合酶链反应克隆了人和小鼠的RAD52同源物。DNA序列分析显示,人类RAD52同源物的开放阅读框为418个氨基酸,小鼠对应物为420个氨基酸残基。这两种蛋白质的同一性为69%,总体相似性为80%。哺乳动物蛋白质与其酵母对应物的同源性主要集中在N端区域。在成年小鼠组织中观察到少量的RAD52 RNA。在睾丸和胸腺中观察到相对较高水平的基因表达,这表明哺乳动物的RAD52蛋白与其酵母同源物一样,在重组中发挥作用。小鼠RAD52基因位于6号染色体末端附近的G3区域。人类对应的基因定位于12号染色体的p13.3区域。到目前为止,这条人类染色体尚未与任何双链断裂修复缺陷的啮齿动物突变体相关联。

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