Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70.
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.
Laboratory of Genetics, University of Wisconsin- Madison, Madison, WI 53706, USA.
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Kusano
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Johnson-Schlitz
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D000251:Adenosine Triphosphatases / Q000235:genetics / Q000502:physiology; D000483:Alleles; D019943:Amino Acid Substitution; D000818:Animals; D034961:Antigens, Nuclear; D001816:Bloom Syndrome / Q000235:genetics; D019457:Chromosome Breakage; D004249:DNA Damage; D004265:DNA Helicases / Q000235:genetics* / Q000502:physiology*; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D004331:Drosophila melanogaster / Q000201:enzymology / Q000235:genetics / Q000502:physiology*; D005260:Female; D005298:Fertility; D017344:Genes, Insect; D005816:Genetic Complementation Test; D005819:Genetic Markers; D000072200:Ku Autoantigen; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D009630:Nondisjunction, Genetic; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D053484:RecQ Helicases; D011995:Recombination, Genetic; D017384:Sequence Deletion; D013094:Spermatozoa / Q000502:physiology; D019076:Transgenes; D014998:Y Chromosome / Q000235:genetics
D034961:Antigens, Nuclear; D004268:DNA-Binding Proteins; D005819:Genetic Markers; D009687:Nuclear Proteins; D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases; C106893:XRCC5 protein, human; C000606509:Xrcc6 protein, human; D000072200:Ku Autoantigen