Fig. 4: Effect of Pms2 c.1993A>G variant on microsatellite instability (MSI) of polyps. | Cell Death & Disease

Fig. 4: Effect of Pms2 c.1993A>G variant on microsatellite instability (MSI) of polyps.

From: A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

Fig. 4

Pattern of mononucleotide repeat markers A Bat37, B Bat59 in wild-type mouse colon DNA (control) and polyp DNA of Pms2ki/ki mice. Orange peaks show the size standards. Highest peak in control DNA is marked by dotted line. Number of nucleotides shifted is indicated on right. C Table showing the numbers of polyps with MSI in Bat37 and Bat59 locus of different genotypes. D MMR activity of nuclear extracts from MEFs of different genotypes. Top panel shows the schematic representation of the assay. Pst I site is impaired due to G-T mismatch in the nicked (5′ or 3′ to the mismatch) heteroduplex in which the thick line of inner strand represents unmethylated region. After incubating with nuclear extracts, heteroduplexes were digested with Pst I and Ase I. G-T mismatch repair on the Pst I site results into generation of smaller fragments (1.2 kb and 0.8 kb) after Pst I and Ase I digestion. Middle panel shows the agarose gel electrophoresis of digested heteroduplexes or plasmids. Lower panel shows the quantification from three independent assays.

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