Sterility of Drosophila with Mutations in the Bloom Syndrome Gene--Complementation by Ku70

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Science  30 Mar 2001:
Vol. 291, Issue 5513, pp. 2600-2602
DOI: 10.1126/science.291.5513.2600

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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 tomus309, 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 ofmus309 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 geneKu70, indicating that the two genes functionally interact in vivo.

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