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CAG repeats are a form of trinucleotide repeat that has been shown to form secondary structures, such as hairpins during DNA replication. Because of this CAG-repeat regions in the genome exhibit higher rates of spontaneous lesions, DNA expansions and contractions than other DNA sequences. In S. cerevisiae the DNA helicases Mph1 and Srs2 are involved in many repair processes, and coordinate which ... read morerepair process the cell will enter. Because of these important roles, the identification of an Srs2 homologue in Homo sapiens would be medically useful. To accomplish this goal, strategies to replace the SRS2 locus with the human genes hFBH1 and hRTEL1 were designed, and assays for chromosome end loss and CAG repeat expansions/contractions were performed for mph1?. The results obtained show an increase in expansions, contractions, and chromosome end loss in mph11? cells. Bioinformatics studies were also conducted, shedding light on possible Srs2 homology.read less
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