Sterility of Drosophila with mutations in the bloom syndrome gene -: Complementation by Ku70
Sterility of Drosophila with mutations in the bloom syndrome gene -: Complementation by Ku70
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DOI：
10.1126/science.291.5513.2600
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发表时间：
2001-03-30
期刊：
影响因子：
56.9
通讯作者：
Engels, WR
中科院分区：
文献类型：
--
作者：
Kusano, K;Johnson-Schlitz, DM;Engels, WR
果蝇Dmblm基因座是人类Bloom综合征基因的同源物，其编码RECQ家族的解旋酶。我们发现，Dmblm是相同的mus 309，最初确定在诱变剂敏感性筛选位点。一个mus 309等位基因，在两个解旋酶基序之间携带一个终止密码子，导致部分雄性不育和完全雌性不育。突变雄性产生过量的XY精子和空精子，与高频率的不分离和/或染色体丢失一致。mus 309的这些表型表明Dmblm在DNA双链断裂修复中起作用。DNA修复基因Ku 70的额外拷贝部分拯救了突变体Dmblm表型，表明这两个基因在体内功能上相互作用。
The Drosophila Dmblm locus is a homolog of the human Bloom syndrome gene, which encodes a helicase of the RECQ family. We show that Dmblm is identical to mus309, a locus originally identified in a mutagen-sensitivity screen. One mus309 allele, which carries a stop codon between two of the helicase motifs, causes partial male sterility and complete female sterility. Mutant males produce an excess of XY sperm and nullo sperm, consistent with a high frequency of nondisjunction and/or chromosome loss. These phenotypes of mus309 suggest that Dmblm functions in DNA double-strand break repair. The mutant Dmblm phenotypes were partially rescued by an extra copy of the DNA repair gene Ku70, indicating that the two genes functionally interact in vivo.