Chromosomal rearrangements occur in S. cerevisiae rfa1 mutator mutants due to mutagenic lesions processed by double-strand-break repair.

Three temperature-sensitive S. cerevisiae RFA1 alleles were found to cause elevated mutation rates. These mutator phenotypes resulted from the accumulation of base substitutions, frameshifts, gross deletions (8 bp-18 kb), and nonreciprocal translocations. A representative rfa1 mutation exhibited a growth defect in conjunction with rad51, rad52, or rad10 mutations, suggesting an ...
accumulation of double-strand breaks. rad10 and rad52 mutations eliminated deletion and translocation formation, whereas a rad51 mutation increased the frequency of these events and revealed a new class of genetic rearrangements--loss of a portion of a chromosome arm combined with telomere addition. The breakpoints of the translocations and deletions were flanked by imperfect direct repeats of 2-20 bp, similar to the breakpoint structures observed at translocations and gross deletions, including LOH events, underlying human cancer and other hereditary diseases.
Mesh Terms:
Alleles, Base Sequence, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Fungal, DNA, DNA Damage, DNA Repair, DNA Replication, DNA, Fungal, DNA-Binding Proteins, Endonucleases, Frameshift Mutation, Fungal Proteins, Humans, Loss of Heterozygosity, Models, Genetic, Molecular Sequence Data, Mutagenesis, Rad51 Recombinase, Rad52 DNA Repair and Recombination Protein, Repetitive Sequences, Nucleic Acid, Replication Protein A, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Single-Strand Specific DNA and RNA Endonucleases, Species Specificity, Translocation, Genetic
Mol. Cell
Date: Jul. 01, 1998
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