DNA Replication Enzyme Defects (Eukaryotic):
DNA Pol Ξ΅ (POLE) mut β β proofreading β ππ¨π₯π¨π«πππππ₯ πππ§πππ«; MMR gene mut (MLH1, MSH2, MSH6, PMS2; linked to Pol Ξ΄/III proofreading) β ππ²π§ππ‘ π¬π²π§ππ«π¨π¦π (πππππ) β microsatellite instability (MSI) tumors; DNA Pol I (prokaryotes) excises RNA primers (5β²β3β² exonuclease) + fills gaps β loss β β mutation rate; global replication enzyme defects β genomic instability, β πππ§πππ« π«π’π¬π€, recurrent infections, inherited syndromes.
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DNA Pol Ξ΅ (POLE) mut β β proofreading β ππ¨π₯π¨π«πππππ₯ πππ§πππ«; MMR gene mut (MLH1, MSH2, MSH6, PMS2; linked to Pol Ξ΄/III proofreading) β ππ²π§ππ‘ π¬π²π§ππ«π¨π¦π (πππππ) β microsatellite instability (MSI) tumors; DNA Pol I (prokaryotes) excises RNA primers (5β²β3β² exonuclease) + fills gaps β loss β β mutation rate; global replication enzyme defects β genomic instability, β πππ§πππ« π«π’π¬π€, recurrent infections, inherited syndromes.
#Lynch #CRC #MiniMedSchool #MedEd