Analysis of TERT Gene Rearrangement by Southern Blot Technology (CAT#: STEM-MHT-0023-LGZ)

Introduction

Official Full Name: telomerase reverse transcriptase
Also known as: TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by adding the telomeric repeat sequence TTAGGG. The enzyme consists of a protein component encoded by the gene that has reverse transcriptase activity and an RNA component that serves as a template for telomeric repeats. The expression of telomerase plays a role in cellular aging because it is normally repressed in postnatal somatic cells, leading to progressive shortening of telomeres. Dysregulation of somatic telomerase expression may be related to tumorigenesis. Mouse studies suggest that telomerase is also involved in chromosome repair, as de novo synthesis of telomeric repeats can occur at double-strand breaks. Alternative splice variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequences of some variants have not been determined. Alternative splicing at this site is thought to be a mechanism for the regulation of telomerase activity.