a dominant, recombination-defective allele of dmc1 causing male-specific sterility主导,recombination-defective等位基因一代造成男性不育.pdfVIP

PLoS BIOLOGY A Dominant, Recombination-Defective Allele of Dmc1 Causing Male-Specific Sterility 1,2 3 3 4,5 1,2 Laura A. Bannister , Roberto J. Pezza , Janet R. Donaldson , Dirk G. de Rooij , Kerry J. Schimenti , R. Daniel Camerini-Otero3, John C. Schimenti1,2* 1 Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States of America, 2 The Jackson Laboratory, Bar Harbor, Maine, United States of America, 3 Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America, 4 Department of Endocrinology, Utrecht University, Utrecht, The Netherlands, 5 Department of Cell Biology, University Medical Center Utrecht, Utrecht, The Netherlands DMC1 is a meiosis-specific homolog of bacterial RecA and eukaryotic RAD51 that can catalyze homologous DNA strand invasion and D-loop formation in vitro. DMC1-deficient mice and yeast are sterile due to defective meiotic Mei11 recombination and chromosome synapsis. The authors identified a male dominant sterile allele of Dmc1, Dmc1 , encoding a missense mutation in the L2 DNA binding domain that abolishes strand invasion activity. Meiosis in male heterozygotes arrests in pachynema, characterized by incomplete chromosome synapsis and no crossing-over. Young heterozygous females have normal litter sizes despite having a decrease