Background: Enzymatic activity of Telomerase Reverse Transcriptase (TERT) is important in maintaining the telomere length and has been implicated in cancer and aging related pathology. Since cancer susceptibility as well as longevity of dogs vary between breeds, this study involved sequencing the entire TERT gene of Canis familiaris from DNA samples obtained from forty dogs, with ten dogs each of four breeds: Shih Tzu, Dachshund, Irish Wolfhound, and Newfoundland, each with different life expectancies and susceptibility to cancer.
Results: We compared the sequences of all forty individuals amongst one another and with the published sequence of canine TERT, and analyzed relationships between members of the same or different breeds. Two separate phylogenetic trees were generated and analyzed from these individuals. Polymorphisms were found most frequently in intronic regions of the gene, although exonic polymorphisms also were observed. In many locations genotypes were observed that were either homozygous for the reference sequence or heterozygous, but the variant homozygous genotype was not observed.
Conclusions: We propose that these homozygous variants are likely to have adverse effects in dogs. It was also found that the polymorphisms did not segregate by breed. Because the four breeds chosen come from geographically and physiologically distinct backgrounds, it can be inferred that the polymorphic diversification of TERT preceded breed derivation.
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http://dx.doi.org/10.1186/1746-6148-10-20 | DOI Listing |
Hum Cell
January 2025
Department of Tumor Pathology, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji, Fukui, 910-1193, Japan.
Only a few human ovarian endometrioid carcinoma cell lines are currently available, partly due to the difficulty of establishing cell lines from low-grade cancers. Here, using a cell immortalization strategy consisting of i) inactivation of the p16-pRb pathway by constitutive expression of mutant cyclin-dependent kinase 4 (R24C) (CDK4) and cyclin D1, and ii) acquisition of telomerase reverse transcriptase (TERT) activity, we established a human ovarian endometrioid carcinoma cell line from a 46-year-old Japanese woman. That line, designated JFE-21, has proliferated continuously for over 6 months with a doubling time of ~ 55 h.
View Article and Find Full Text PDFComput Biol Med
January 2025
Institute of Biomedical Engineering, Bogazici University, Istanbul, Turkey; Center for Neuroradiological Applications and Research, Acibadem University, Istanbul, Turkey.
Background: Preoperative and noninvasive detection of isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase gene promoter (TERTp) mutations in glioma is critical for prognosis and treatment planning. This study aims to develop deep learning classifiers to identify IDH and TERTp mutations using proton magnetic resonance spectroscopy (H-MRS) and a one-dimensional convolutional neural network (1D-CNN) architecture.
Methods: This study included H-MRS data from 225 adult patients with hemispheric diffuse glioma (117 IDH mutants and 108 IDH wild-type; 99 TERTp mutants and 100 TERTp wild-type).
World J Stem Cells
January 2025
Department of Orthopedic Surgery, Yeungnam University College of Medicine, Daegu 42415, South Korea.
Background: Mesenchymal stem cells (MSCs) are promising candidates for regenerative therapy due to their self-renewal capability, multilineage differentiation potential, and immunomodulatory effects. The molecular characteristics of MSCs are influenced by their location. Recently, epidural fat (EF) and EF-derived MSCs (EF-MSCs) have garnered attention due to their potential benefits to the spinal microenvironment and their high expression of neural SC markers.
View Article and Find Full Text PDFNeuropathology
January 2025
Department of Pathology, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, Shenzhen, China.
We report a rare case of rhabdoid meningioma (RM) originating from the optic nerve in a 57-year-old female. The tumor exhibited rhabdoid or epithelioid histology and harbored BAP1 inactivation mutations. Optic nerve meningioma typically originates from the outer meningeal cells of the optic nerve within the optic canal and is usually benign, with most cases classified as meningothelial or transitional meningiomas.
View Article and Find Full Text PDFCancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
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