POT1-TPP1 telomere length regulation and disease

Autor: Tomas Aramburu, Sarah Plucinsky, Emmanuel Skordalakes
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 1939-1946 (2020)
Druh dokumentu: article
ISSN: 2001-0370
DOI: 10.1016/j.csbj.2020.06.040
Popis: Telomeres are DNA repeats at the ends of linear chromosomes and are replicated by telomerase, a ribonucleoprotein reverse transcriptase. Telomere length regulation and chromosome end capping are essential for genome stability and are mediated primarily by the shelterin and CST complexes. POT1-TPP1, a subunit of shelterin, binds the telomeric overhang, suppresses ATR-dependent DNA damage response, and recruits telomerase to telomeres for DNA replication. POT1 localization to telomeres and chromosome end protection requires its interaction with TPP1. Therefore, the POT1-TPP1 complex is critical to telomere maintenance and full telomerase processivity. The aim of this mini-review is to summarize recent POT1-TPP1 structural studies and discuss how the complex contributes to telomere length regulation. In addition, we review how disruption of POT1-TPP1 function leads to human disease.
Databáze: Directory of Open Access Journals