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Telomere length set point regulation in human pluripotent stem cells critically depends on the shelterin protein TPP1

John M. Boyle, Kelsey M. Hennick, Samuel G. Regalado, Jacob M. Vogan, Xiaozhu Zhang, Kathleen Collins, Dirk Hockemeyer

2020Molecular Biology of the Cell18 citationsDOIOpen Access PDF

Abstract

To better understand telomere length set point control in human stem cells, we generated knockout stem cell lines for TPP1 and contrasted their phenotypes with those of homozygous TPP1 L104A mutant stem cells. This comparison reveals that TPP1 L104A is not a hypomorphic allele but formally establishes TPP1 L104 as a dissociation of function mutant.

Topics & Concepts

TelomereShelterinBiologyTelomeraseInduced pluripotent stem cellTelomere-binding proteinCell biologyStem cellPoint mutationMutantMolecular biologyGeneticsEmbryonic stem cellTranscription factorDNA-binding proteinDNAGeneTelomeres, Telomerase, and SenescenceRNA Interference and Gene DeliveryPluripotent Stem Cells Research
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