Year: 2014
Type: article
Abstract: : Telomeres are essential for chromosome integrity and stability. The telomerase complex is the reverse transcriptase required for the addition of telomeric repeats at chromosome ends and is essential for their maintenance. The enzyme is expressed in over 80% of tumors and, indeed, telomerase is one of the genetic elements required for cellular transformation. In addition, telomeres recruit complexes called shelterin and the CTC1-STN1-TEN1 (CST) complex, which exhibit a high degree of conservation from yeast to mammals. These telomere-associated proteins mediate the roles of telomeres important for chromosome end protection and replication. Recently, some of the known shelterin components and associated telomeric factors have been described as cancer susceptibility genes. Furthermore, following extensive biochemical and genetic dissection of telomere function in a great number of model systems, the past decade has seen great progress in linking specific mutations in telomere-associated proteins with pathologies referred to as “telomeropathies”. These include the dyskeratosis congenita, Hoyeraal–Hreidarsson, and Coats’ plus syndromes, which result from defects in telomere maintenance and protection. We review here the observations and known molecular determinants linking telomere dysfunction to cancer or telomeropathy. Keywords: telomere, telomerase, POT1, TIN2, RAP1, DNA damage
Source: Cell Health and Cytoskeleton
DOI: 10.2147/chc.s49687
Authors: Diego Loayza, Sampada Kalan
Institutions: City University of New York, Hunter College
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W2085307435