2024
D239Y germline variant of NTHL1 glycosylase increases susceptibility to colorectal cancer in mice
Masannat T, Ghishan F, Kiela P, Sweasy J. D239Y germline variant of NTHL1 glycosylase increases susceptibility to colorectal cancer in mice. Physiology 2024, 39: 2118. DOI: 10.1152/physiol.2024.39.s1.2118.Peer-Reviewed Original ResearchInflammation-associated colorectal cancerColorectal cancerDistal colonColon lengthSusceptibility to colorectal cancerC57BL/6 wild-typeMicronucleated normochromatic erythrocytesProximal tumor locationFemale C57BL/6 wild-typeIncreased lifetime riskDextran sulfate sodiumSize of polypsMonitoring body weightKnock-in miceIncreased polyp numberDominant-negative mutationsNormal drinking waterDSS cycleTumor locationWT miceNormochromatic erythrocytesDNA damageWT littermatesColitis scoresRepair mechanisms
2012
Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates
Senejani AG, Dalal S, Liu Y, Nottoli TP, McGrath JM, Clairmont CS, Sweasy JB. Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 6632-6637. PMID: 22493258, PMCID: PMC3340078, DOI: 10.1073/pnas.1200800109.Peer-Reviewed Original ResearchConceptsDNA polymerase activityWT littermatesKnockin miceMiceMouse embryo fibroblastsChromosomal aberrationsWT mouse embryo fibroblastsNormal Mendelian ratioSlow proliferationPolymerase activityBirthΒ variantCell deathEmbryo fibroblastsWT cellsExcision repair pathwayDNA repair systemsCellular metabolismBase excision repair pathwayFibroblastsHoursHigh levelsHomozygous mutantsKey players