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    Telomeraz ile ilişkili bazı genlerdeki yüksek riskli zararlı SNP'lerin biyoinformatik yöntemlerle belirlenmesi
    (Hitit Üniversitesi, 2025) Karataban, Gamze; Avşar, Orçun
    Telomeres protect chromosomal ends to maintain genomic integrity. They contain proximal double-stranded and distal single-stranded regions, complexed with Shelterin proteins, and are highly conserved. The telomere region plays a role in gene expression, aging, tumor formation, and cell proliferation. The difference of telomeres from other parts of chromosomes is the loss and reconstitution of telomeric DNA due to the cell cycle. Telomerase is an RNAdependent DNA polymerase that synthesises telomeric DNA sequences and provides the molecular basis for unlimited replication potential and is the essential reverse transcriptase required for the maintenance of linear chromosome ends in most eukaryotes. Telomerase is a unique cellular reverse transcriptase that includes an integral RNA subunit, telomerase RNA (TER, hTR, TERC), a catalytic protein subunit, telomerase reverse transcriptase (TERT), and several species-specific accessory proteins. In this thesis study, genes associated with the telomerase enzyme, TERT, Pseudouridine Synthase Dyskerin 1 (DKC1), Heat Shock Protein 90 Alpha Family Class A Member 1 (HSP90AA1), Ribosomal Protein L22 (RPL22), Telomerase Protein Component 1 or Telomerase Associated Protein 1 (TEP1), It was aimed to determine the effects of single nucleotide polymorphisms (SNPs) in Staufen1 (STAU1) genes on the function, secondary structure, stabilization and evolutionary conservation of proteins using various bioinformatics tools. As a result of this thesis, the effects of SNPs in TERT, DKC1, and STAU1 genes related to telomerase enzyme on the function, secondary structure, stabilization, and evolutionary conservation of proteins were determined by using various bioinformatics tools. As a result, rs121912293 (F36V), rs121912295 (G402E), rs121912298 (M350I), rs121912300 (M350T), rs146700772 (S280R), rs199422248 (K314R), rs199422249 (D359N), rs199422250 (P384S), rs2728534 (I226S), rs17850575 (V285F) variants for DKC1 gene; rs19422293 (R486C) variant for TERT gene; rs61748376 (L165P), rs369362574 vi (N286S) variants for STAU1 gene. These deleterious effects include decreased protein stability, loss of acetylation, and loss of methylation. It is predicted that the deleterious SNPs identified in this study may adversely affect biological processes involving the telomerase enzyme. We suggest that these pathogenic variants may be considered as risk factors in the pathogenesis of telomere biology diseases. The results obtained in this thesis need to be confirmed by further in vitro and in vivo studies.