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.
Kusano
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Laboratory of Genetics, University of Wisconsin- Madison, Madison, WI 53706, USA.
Johnson-Schlitz
D M
DM
Engels
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WR
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