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Precise and Accurate DNA-3'/5-Ends Polishing with Phage vb_Tt72 DNA Polymerase.
Int J Mol Sci
December 2024
Laboratory of Extremophiles Biology, Department of Microbiology, Faculty of Biology, University of Gdansk, 80-308 Gdansk, Poland.
Tt72 DNA polymerase is a newly characterized PolA-type thermostable enzyme derived from the phage vB_Tt72. The enzyme demonstrates strong 3'→5' exonucleolytic proofreading activity, even in the presence of 1 mM dNTPs. In this study, we examined how the exonucleolytic activity of Tt72 DNA polymerase affects the fidelity of DNA synthesis.
View Article and Find Full Text PDFPreventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.
Nat Commun
December 2024
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden.
Aberration of mitochondrial function is a shared feature of many human pathologies, characterised by changes in metabolic flux, cellular energetics, morphology, composition, and dynamics of the mitochondrial network. While some of these changes serve as compensatory mechanisms to maintain cellular homeostasis, their chronic activation can permanently affect cellular metabolism and signalling, ultimately impairing cell function. Here, we use a Drosophila melanogaster model expressing a proofreading-deficient mtDNA polymerase (POLγ) in a genetic screen to find genes that mitigate the harmful accumulation of mtDNA mutations.
View Article and Find Full Text PDFPortuguese version of the Literacy Independent Cognitive Assessment (LICA) instrument in the evaluation of individuals aged 50 years or older with Itabaianinha syndrome.
Arch Endocrinol Metab
October 2024
Divisão de Endocrinologia Programa de Pós-graduação em Ciências da Saúde Universidade Federal de Sergipe AracajuSE Brasil Divisão de Endocrinologia, Programa de Pós-graduação em Ciências da Saúde, Universidade Federal de Sergipe, Aracaju, SE, Brasil.
Objectives: Individuals with congenital isolated growth hormone deficiency (IGHD) in Northeastern Brazil have a normal lifespan with a prolonged healthspan. We hypothesize that their increased healthspan is accompanied by a reduced cognitive decline during aging. We have recently shown that these individuals have a similar total cognitive function and better attention and executive function than controls.
View Article and Find Full Text PDFEvidence that DNA polymerase δ proofreads errors made by DNA polymerase α across the Saccharomyces cerevisiae nuclear genome.
DNA Repair (Amst)
November 2024
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, DHHS, Research Triangle Park, NC 27709, USA. Electronic address:
We show that the rates of single base substitutions, additions, and deletions across the nuclear genome are strongly increased in a strain harboring a mutator variant of DNA polymerase α combined with a mutation that inactivates the 3´-5´ exonuclease activity of DNA polymerase δ. Moreover, tetrad dissections attempting to produce a haploid triple mutant lacking Msh6, which is essential for DNA mismatch repair (MMR) of base•base mismatches made during replication, result in tiny colonies that grow very slowly and appear to be aneuploid and/or defective in oxidative metabolism. These observations are consistent with the hypothesis that during initiation of nuclear DNA replication, single-base mismatches made by naturally exonuclease-deficient DNA polymerase α are extrinsically proofread by DNA polymerase δ, such that in the absence of this proofreading, the mutation rate is strongly elevated.
View Article and Find Full Text PDFAn update on central nervous system tumors in germline replication-repair deficiency syndromes.
Neurooncol Adv
June 2024
Division of Haematology Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
DNA replication-repair deficiency (RRD) arises from pathogenic variants in the mismatch repair and/or polymerase-proofreading genes. Multiple germline cancer predisposition syndromes in children and young adults, including constitutional mismatch repair deficiency (CMMRD), Lynch, polymerase-proofreading deficiency, and rare digenic syndromes can lead to RRD cancers. The most frequent brain tumors in these children are high-grade gliomas.
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