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POT1-TPP1端粒长度调控与疾病

POT1-TPP1 telomere length regulation and disease.

作者信息

Aramburu Tomas, Plucinsky Sarah, Skordalakes Emmanuel

机构信息

The Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USA.

出版信息

Comput Struct Biotechnol J. 2020 Jul 3;18:1939-1946. doi: 10.1016/j.csbj.2020.06.040. eCollection 2020.

DOI:10.1016/j.csbj.2020.06.040
PMID:32774788
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7385035/
Abstract

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.

摘要

端粒是线性染色体末端的DNA重复序列，由端粒酶（一种核糖核蛋白逆转录酶）进行复制。端粒长度调控和染色体末端封端对于基因组稳定性至关重要，主要由 shelterin 和 CST 复合体介导。POT1-TPP1 是 shelterin 的一个亚基，它结合端粒突出端，抑制 ATR 依赖的DNA损伤反应，并将端粒酶招募到端粒进行DNA复制。POT1 定位于端粒和染色体末端保护需要其与 TPP1 相互作用。因此，POT1-TPP1 复合体对于端粒维持和完整的端粒酶持续合成能力至关重要。本综述的目的是总结近期关于 POT1-TPP1 的结构研究，并讨论该复合体如何有助于端粒长度调控。此外，我们还综述了 POT1-TPP1 功能的破坏如何导致人类疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/4287d5eaa13b/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/e9d61149bc06/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/8cb413b5a797/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/4287d5eaa13b/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/e9d61149bc06/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/8cb413b5a797/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1960/7385035/4287d5eaa13b/gr3.jpg

相似文献

[1]
POT1-TPP1 telomere length regulation and disease.

Comput Struct Biotechnol J. 2020-7-3

[2]
TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase.

Nature. 2007-2-1

[3]
Structure and function of the telomeric CST complex.

Comput Struct Biotechnol J. 2016-4-14

[4]
Structural biology of telomeres and telomerase.

Cell Mol Life Sci. 2019-11-14

[5]
Structure of Tetrahymena telomerase-bound CST with polymerase α-primase.

Nature. 2022-8

[6]
TRF2-tethered TIN2 can mediate telomere protection by TPP1/POT1.

Mol Cell Biol. 2014-1-27

[7]
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Transl Res. 2013-6-1

[8]
Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.

J Biol Chem. 2014-8-29

[9]
Human telomere POT1-TPP1 complex and its role in telomerase activity regulation.

Methods Mol Biol. 2011

[10]
In vivo stoichiometry of shelterin components.

J Biol Chem. 2009-10-28

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Angiosarcoma: a systematic review of biomarkers in diagnosis, prognosis, and therapeutic strategies.

Front Oncol. 2025-7-1

[2]
Effects of Pharmacological Treatment on Telomere Length and the Expression of Telomerase/Shelterin-Related Genes in Rat Models of Autism.

J Mol Neurosci. 2025-4-24

[3]
Locking the gates of immortality: targeting alternative lengthening of telomeres (ALT) pathways.

Med Oncol. 2025-2-18

[4]
EZH1/2 plays critical roles in oocyte meiosis prophase I in mice.

Biol Res. 2024-11-8

[5]
Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1.

Transl Psychiatry. 2024-3-1

[6]
Effects of HSV-G47Δ Oncolytic Virus on Telomerase and Telomere Length Alterations in Glioblastoma Multiforme Cancer Stem Cells Under Hypoxia and Normoxia Conditions.

Curr Cancer Drug Targets. 2024

[7]
Germline Variants: A Critical Perspective on Tumor Predisposition Syndrome.

Genes (Basel). 2024-1-16

[8]
Telomere maintenance in African trypanosomes.

Front Mol Biosci. 2023-11-24

[9]
The Altered Functions of Shelterin Components in ALT Cells.

Int J Mol Sci. 2023-11-27

[10]
Maternal stress-induced changes in adolescent and adult offspring: Neurobehavioural improvement and telomere maintenance.

Heliyon. 2023-9-21

本文引用的文献

[1]
Characterization of t-loop formation by TRF2.

Nucleus. 2020-12

[2]
SMCHD1 promotes ATM-dependent DNA damage signaling and repair of uncapped telomeres.

EMBO J. 2020-2-21

[3]
Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study.

PLoS One. 2020-2-10

[4]
POT1-TPP1 differentially regulates telomerase via POT1 His266 and as a function of single-stranded telomere DNA length.

Proc Natl Acad Sci U S A. 2019-11-4

[5]
Pulmonary fibrosis linked to variants in the gene, encoding the telomere protein TPP1.

Eur Respir J. 2019-12-19

[6]
TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.

Mol Cell Biol. 2019-10-11

[7]
TSPYL5 Depletion Induces Specific Death of ALT Cells through USP7-Dependent Proteasomal Degradation of POT1.

Mol Cell. 2019-7-2

[8]
Two Separation-of-Function Isoforms of Human TPP1 Dictate Telomerase Regulation in Somatic and Germ Cells.

Cell Rep. 2019-6-18

[9]
Protection of telomeres 1 proteins POT1a and POT1b can repress ATR signaling by RPA exclusion, but binding to CST limits ATR repression by POT1b.

J Biol Chem. 2018-8-6

[10]
CTC1-STN1 terminates telomerase while STN1-TEN1 enables C-strand synthesis during telomere replication in colon cancer cells.

Nat Commun. 2018-7-19

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