Topic
TERF2
About: TERF2 is a research topic. Over the lifetime, 40 publications have been published within this topic receiving 5016 citations.
Papers
TL;DR: The current data argue that shelterin is emerging as a protein complex with DNA remodeling activity that acts together with several associated DNA repair factors to change the structure of the telomeric DNA, thereby protecting chromosome ends.
Abstract: Added by telomerase, arrays of TTAGGG repeats specify the ends of human chromosomes. A complex formed by six telomere-specific proteins associates with this sequence and protects chromosome ends. By analogy to other chromosomal protein complexes such as condensin and cohesin, I will refer to this complex as shelterin. Three shelterin subunits, TRF1, TRF2, and POT1 directly recognize TTAGGG repeats. They are interconnected by three additional shelterin proteins, TIN2, TPP1, and Rap1, forming a complex that allows cells to distinguish telomeres from sites of DNA damage. Without the protective activity of shelterin, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. How does shelterin avert these events? The current data argue that shelterin is not a static structural component of the telomere. Instead, shelterin is emerging as a protein complex with DNA remodeling activity that acts together with several associated DNA repair factors to change the structure of the telomeric DNA, thereby protecting chromosome ends. Six shelterin subunits: TRF1, TRF2, TIN2, Rap1, TPP1, and POT1.
2,988 citations
TL;DR: It is shown that the human telomeric protein TRF2 plays a key role in the protective activity of telomeres, and the results raise the possibility that chromosome end fusions and senescence in primary human cells may be caused by loss byTRF2 from shortenedtelomeres.
1,784 citations
TL;DR: Evidence is provided that telomeres length and genetic variation in telomere maintenance genes may be associated with risk of lung cancer susceptibility and warrant replication in larger studies.
96 citations
TL;DR: The vast majority of cells undergo apoptosis, although a rare cell may survive and become tumorigenic, and telomeres at the ends of linear chromosomes become dysfunctional, genomic instability ensues.
Abstract: BACKGROUND:
Telomeres are protective structures at the ends of linear chromosomes, regulated by a host of associated proteins. When telomeres become dysfunctional, genomic instability ensues. The vast majority of cells undergo apoptosis, although a rare cell may survive and become tumorigenic.
METHODS:
The authors used conditional logistic regression to examine relative telomere length in peripheral blood leukocytes, genetic variants at telomere maintenance gene loci (TERT, TNKS2, POT1, TERF1, TERF2), and endometrial cancer risk in case-control studies nested within the Nurses' Health Study and the Women's Health Study.
RESULTS:
Relative telomere length was significantly inversely correlated with body mass index and weight gain since age 18 years. The authors did not observe a relationship between relative telomere length and endometrial cancer risk. Women in the shortest quartile had a multivariate-adjusted odds ratio (OR) of 1.20 (95% confidence interval [95% CI], 0.73-1.96; P for trend = .37) compared with women in the longest quartile. The authors found an elevation in endometrial cancer risk among women carrying at least 1 minor allele of RS2736122 (TERT; OR, 1.18; 95% CI, 1.01-1.38) or RS12412538 (TNKS2; OR, 1.16; 95% CI, 1.00-1.34).
CONCLUSIONS:
Relative telomere length was not associated with endometrial cancer risk. Other aspects of telomere maintenance remain to be explored. Cancer 2010. © 2010 American Cancer Society.
77 citations
TL;DR: It is possible that a common genetic variant in TERF1 is associated with risk for AA but additional studies are required and highly penetrant, non-synonymous, or insertion-deletion mutations in TERf1 and TERF2 were not identified and therefore are not likely to be major genetic risk factors for the development of AA.
57 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 8 |
| 2020 | 2 |
| 2019 | 1 |
| 2018 | 1 |
| 2017 | 2 |
| 2016 | 2 |