Reactivation of telomerase reverse transcriptase expression in cancer: the role of TERT promoter mutations.

ABSTRACT: Telomerase activity and telomere elongation are essential conditions for the unlimited proliferation of neoplastic cells. Point mutations in the core promoter region of the telomerase reverse transcriptase (TERT) gene have been found to occur at high frequencies in several tumour types and considered a primary cause of telomerase reactivation in cancer cells. These mutations promote TERT gene expression by multiple mechanisms, including the generation of novel binding sites for nuclear transcription factors, displacement of negative regulators from DNA G-quadruplexes, recruitment of epigenetic activators and disruption of long-range interactions between TERT locus and telomeres. Furthermore, TERT promoter mutations cooperate with TPP1 promoter nucleotide changes to lengthen telomeres and w

SUBMITTER: Tornesello ML 

PROVIDER: S-EPMC10684755 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature