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A persistent variant telomere sequence in a human pedigree

1 Jun 2024

Abstract excerpt

The telomere sequence, TTAGGG, is conserved across all vertebrates and plays an essential role in suppressing the DNA damage response by binding a set of proteins termed shelterin. Changes in the telomere sequence impair shelterin binding, initiate a DNA damage response, and are toxic to cells. Here we identify a family with a variant in the telomere template sequence of telomerase, the enzyme responsible for...

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Share to Advanced biosensing and bioanalysis techniques
Share to DNA Repair Mechanisms
Share to Telomeres, Telomerase, and Senescence

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PMID: 38824190
DOI: 10.1038/s41467-024-49072-9

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