RRC ID 35674
Author Kusano K, Johnson-Schlitz DM, Engels WR.
Title Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70.
Journal Science
Abstract 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.
Volume 291(5513)
Pages 2600-2
Published 2001-3-30
DOI 10.1126/science.291.5513.2600
PII 291/5513/2600
PMID 11283371
MeSH Adenosine Triphosphatases / genetics Adenosine Triphosphatases / physiology Alleles Amino Acid Substitution Animals Antigens, Nuclear* Bloom Syndrome / genetics Chromosome Breakage DNA Damage DNA Helicases / genetics* DNA Helicases / physiology* DNA Repair DNA-Binding Proteins / genetics* DNA-Binding Proteins / physiology Drosophila melanogaster / enzymology Drosophila melanogaster / genetics Drosophila melanogaster / physiology* Female Fertility Genes, Insect Genetic Complementation Test Genetic Markers Ku Autoantigen Male Mutagenesis, Insertional Mutation Nondisjunction, Genetic Nuclear Proteins / genetics* Nuclear Proteins / physiology Phenotype RecQ Helicases Recombination, Genetic Sequence Deletion Spermatozoa / physiology Transgenes Y Chromosome / genetics
IF 41.846
Times Cited 87