Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization

CJ Lim, TR Cech - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The regulation of telomere length in mammals is crucial for chromosome end-capping and
thus for maintaining genome stability and cellular lifespan. This process requires …

Regulation of human telomerase in homeostasis and disease

CM Roake, SE Artandi - Nature reviews Molecular cell biology, 2020 - nature.com
Telomerase is a ribonucleoprotein complex, the catalytic core of which includes the
telomerase reverse transcriptase (TERT) and the non-coding human telomerase RNA (hTR) …

Telomeres in cancer: tumour suppression and genome instability

J Maciejowski, T de Lange - Nature reviews Molecular cell biology, 2017 - nature.com
The shortening of human telomeres has two opposing effects during cancer development.
On the one hand, telomere shortening can exert a tumour-suppressive effect through the …

CST–Polα/Primase: the second telomere maintenance machine

SW Cai, T de Lange - Genes & Development, 2023 - genesdev.cshlp.org
It has been known for decades that telomerase extends the 3′ end of linear eukaryotic
chromosomes and dictates the telomeric repeat sequence based on the template in its RNA …

The telomere syndromes

M Armanios, EH Blackburn - Nature Reviews Genetics, 2012 - nature.com
There has been mounting evidence of a causal role for telomere dysfunction in a number of
degenerative disorders. Their manifestations encompass common disease states such as …

Structures of the human CST-Polα–primase complex bound to telomere templates

Q He, X Lin, BL Chavez, S Agrawal, BL Lusk, CJ Lim - Nature, 2022 - nature.com
The mammalian DNA polymerase-α–primase (Polα–primase) complex is essential for DNA
metabolism, providing the de novo RNA–DNA primer for several DNA replication pathways …

53BP1: a DSB escort

Z Mirman, T de Lange - Genes & development, 2020 - genesdev.cshlp.org
Abstract 53BP1 is an enigmatic DNA damage response factor that gained prominence
because it determines the efficacy of PARP1 inhibitory drugs (PARPi) in BRCA1-deficient …

The human CST complex is a terminator of telomerase activity

LY Chen, S Redon, J Lingner - Nature, 2012 - nature.com
The lengths of human telomeres, which protect chromosome ends from degradation and
end fusions,, are crucial determinants of cell lifespan. During embryogenesis and in cancer …

TERT promoter mutations in telomere biology

B Heidenreich, R Kumar - Mutation Research/Reviews in Mutation …, 2017 - Elsevier
Telomere repeats at chromosomal ends, critical to genome integrity, are maintained through
an elaborate network of proteins and pathways. Shelterin complex proteins shield telomeres …