TERT Gene

The TERT gene (TERT stands for "telomerase reverse transcriptase") is a protein-coding gene located on chromosome 5p15.33. Associated signaling pathways include chromosome maintenance and signaling through WNT. Annotations associated with this gene include protein homodimerization activity and tRNA binding.

Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be a mechanism for regulating telomerase activity.

Telomerase is a ribonucleoprotein consisting of an internal telomerase RNA template (TERC) and the enzyme telomerase reverse transcriptase(TERT). The protein component with reverse transcriptase activity is encoded by the TERT gene. The RNA component serves as a template for telomere repeat.

Telomerase adds DNA repeat sequences (TTAGGG) to the end of chromosomes. Multiple repeats of these sequences form a "telomere".

Telomerase expression plays a role in cellular senescence because it is normally suppressed in postnatal somatic cells, leading to progressive shortening of telomeres. Dysregulation of telomerase expression may be involved in oncogenesis in somatic cells. Animal studies suggest that telomerase is also involved in chromosome repair, as de novo synthesis of telomere repeats may occur upon double-strand breaks.

Telomerase activity is regulated by a number of factors. These include telomerase complex-associated proteins, chaperones , and polypeptide modifiers. Telomerase activity plays an important role in aging and anti-apoptosis.

Diseases associated with TERT include:

• Dyskeratosis Congenita, Autosomal Dominant 2

and

• Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related

1. Colebatch AJ et al (2019) TERT gene: its function and dysregulation in cancer. J Clin Pathol 72:281-284
2. Yuan X et al (2019) Mechanisms underlying the activation of TERT transcription and telomerase activity in human cancer: old actors and new players. Oncogene 38: 6172-6183.