Multiple POT1–TPP1 Proteins Coat and Compact Long Telomeric Single-Stranded DNA
Telomeres are nucleoprotein complexes that cap and protect the ends of linear chromosomes. In humans, telomeres end in 50–300 nt of G-rich single-stranded DNA (ssDNA) overhangs.
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TPP1 as a versatile player at the ends of chromosomes
Frontiers in Biology, 2014Telomeres, the ends of linear eukaryotic chromosomes, are tandem DNA repeats and capped by various telomeric proteins. These nucleoprotein complexes protect telomeres from DNA damage response (DDR), recombination, and end-to-end fusions, ensuring genome stability.
Sijie Zhang +5 more
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Structural and functional analyses of the mammalian TIN2-TPP1-TRF2 telomeric complex [PDF]
Telomeres are nucleoprotein complexes that play essential roles in protecting chromosome ends. Mammalian telomeres consist of repetitive DNA sequences bound by the shelterin complex. In this complex, the POT1-TPP1 heterodimer binds to single-stranded telomeric DNAs, while TRF1 and TRF2-RAP1 interact with double-stranded telomeric DNAs.
Rekha Rai +2 more
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Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
European Journal of Medical Genetics, 2021RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated CLN2 phenotype, including a history of regression, recent-onset microcephaly and spasticity from age ...
Guy Helman +10 more
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The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity [PDF]
Human chromosome ends are capped by shelterin, a protein complex that protects the natural ends from being recognized as sites of DNA damage and also regulates the telomere-replicating enzyme, telomerase. Shelterin includes the heterodimeric POT1-TPP1 protein, which binds the telomeric single-stranded DNA tail.
Jayakrishnan Nandakumar +2 more
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An N-terminal Flag-tag impairs TPP1 regulation of telomerase function
Biochemical and Biophysical Research Communications, 2019The shelterin protein complex protects natural chromosome ends from being recognized as DNA damage sites and also regulates the synthesis of telomeric repeats by telomerase. TPP1, a shelterin subunit that is essential for telomerase extension of telomeres, has been studied intensively in recent years.
Ranjodh Sandhu, Derek Wei, Lifeng Xu
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Role of TRF2 and TPP1 regulation in idiopathic recurrent pregnancy loss
International Journal of Biological Macromolecules, 2019Telomeres are the tandem repeats (TTAGGG) present at the ends of the chromosomes that ensure chromosome stability and protect chromosomes from degradation. Telomeres in somatic human cells shorten after every cellular division and are linked to the cellular senescence. In this study we have investigated telomere length and expression of shelterin genes
Rameez Hassan Pirzada +4 more
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Active and Passive Destabilization of G-Quadruplex DNA by the Telomere POT1-TPP1 Complex
Journal of Molecular Biology, 2021Chromosome ends are protected by guanosine-rich telomere DNA that forms stable G-quadruplex (G4) structures. The heterodimeric POT1-TPP1 complex interacts specifically with telomere DNA to shield it from illicit DNA damage repair and to resolve secondary structure that impedes telomere extension.
Mengyuan Xu +7 more
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TPP1 is a homologue of ciliate TEBP-β and interacts with POT1 to recruit telomerase
Nature, 2007Telomere dysfunction may result in chromosomal abnormalities, DNA damage responses, and even cancer. Early studies in lower organisms have helped to establish the crucial role of telomerase and telomeric proteins in maintaining telomere length and protecting telomere ends.
Ma Wan, Hyeung Kim, Wen Sun
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TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia
Neurology, 2015Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset age and electron microscopy abnormalities as infantile, late infantile, juvenile, and adult.1,2 Molecular techniques have broadened diagnostic subgroups with identification of at least 13 NCL ...
Marisela E, Dy +2 more
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