POT1-TPP1 telomere length regulation and disease

Computational and Structural Biotechnology Journal

Emmanuel Skordalakes¹  Tomas Aramburu²  Sarah Plucinsky² 

[1] Corresponding author.;The Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USA;

关键词: Telomeres;    Telomerase;    Shelterin;    POT1;    TPP1;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown