Critical role of the POT1 OB domain in maintaining genomic stability
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DOI: 10.1038/onc.2016.365
Abstract: Oligonucleotide/oligosaccharide-binding (OB) domain-containing proteins have been identified as critical for telomere maintenance, DNA repair, transcription and other DNA metabolism processes. Protection of telomere 1 (POT1), a telomere binding protein, has an OB domain like single-strand… read more here.
Keywords: pot1 telomere; genomic stability; role; pot1 ... See more keywords
Gametes deficient for Pot1 telomere binding proteins alter levels of telomeric foci for multiple generations
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DOI: 10.1038/s42003-020-01624-7
Abstract: Deficiency for telomerase results in transgenerational shortening of telomeres. However, telomeres have no known role in transgenerational epigenetic inheritance. C. elegans Protection Of Telomeres 1 (Pot1) proteins form foci at the telomeres of germ cells… read more here.
Keywords: proteins alter; alter levels; biology; pot1 ... See more keywords
Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108776
Abstract: Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range of tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons of… read more here.
Keywords: pot1; melanoma; analysis pot1; population based ... See more keywords
Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms
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DOI: 10.1182/blood-2020-134160
Abstract: Germline mutations in the shelterin component protection of telomeres 1 (POT1) were recently found to be associated with familial chronic lymphocytic leukemia (CLL), melanoma, glioma, and several other familial cancer syndromes. The role of POT1… read more here.
Keywords: hematologic; pot1 variants; malignancy; germline pot1 ... See more keywords
Insights into POT1 structural dynamics revealed by cryo-EM
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DOI: 10.1371/journal.pone.0264073
Abstract: Telomeres are protein-DNA complexes that protect the ends of linear eukaryotic chromosomes. Mammalian telomeric DNA consists of 5′-(TTAGGG)n-3′ double-stranded repeats, followed by up to several hundred bases of a 3′ single-stranded G-rich overhang. The G-rich… read more here.
Keywords: pot1; dna; dna binding; pot1 structural ... See more keywords
POT1 mutations are frequent and associated with Ki-67 index in canine diffuse large B-cell lymphoma
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Veterinary Science"
DOI: 10.3389/fvets.2022.968807
Abstract: Diffuse large B-cell lymphoma (DLBCL) represents one of the most frequent and deadliest neoplasia in dogs worldwide and is characterized by a remarkable degree of clinical heterogeneity, with poor chances to anticipate the outcome. Even… read more here.
Keywords: pot1; cell lymphoma; large cell; diffuse large ... See more keywords
Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13040591
Abstract: Germline disruptive variants in Protection of Telomeres 1 (POT1) predispose to a wide variety of cancers, including melanoma, chronic lymphocytic leukemia (CLL), Hodgkin lymphoma, myeloproliferative neoplasms, and glioma. We report the first case of splenic… read more here.
Keywords: pot1; lymphoma; germline pot1; variant ... See more keywords