@article{MTMT:34544485, title = {Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling}, url = {https://m2.mtmt.hu/api/publication/34544485}, author = {Tordai, Csongor and Hathy, Edit Margit and Gyergyák, Hella and Vincze, Katalin and Baradits, Máté and Koller, Júlia and Póti, Ádám and Jezsó, Bálint and Homolya, László and Molnár, Mária Judit and Nagy, László and Szüts, Dávid and Apáti, Ágota and Réthelyi, János}, doi = {10.1016/j.schres.2024.01.024}, journal-iso = {SCHIZOPHR RES}, journal = {SCHIZOPHRENIA RESEARCH}, unique-id = {34544485}, issn = {0920-9964}, year = {2024}, eissn = {1573-2509}, orcid-numbers = {Tordai, Csongor/0000-0001-9770-997X; Hathy, Edit Margit/0000-0001-8977-5686; Vincze, Katalin/0000-0002-4668-1134; Baradits, Máté/0000-0003-1131-4550; Koller, Júlia/0000-0003-3352-7450; Jezsó, Bálint/0000-0002-1306-4797; Homolya, László/0000-0003-1639-8140; Molnár, Mária Judit/0000-0001-9350-1864; Réthelyi, János/0000-0002-3641-012X} } @article{MTMT:34487062, title = {Mutational profile of the regenerative process and de novo genome assembly of the planarian Schmidtea polychroa}, url = {https://m2.mtmt.hu/api/publication/34487062}, author = {Póti, Ádám and Szüts, Dávid and Vermezovic, Jelena}, doi = {10.1093/nar/gkad1250}, journal-iso = {NUCLEIC ACIDS RES}, journal = {NUCLEIC ACIDS RESEARCH}, unique-id = {34487062}, issn = {0305-1048}, abstract = {Planarians are organisms with a unique capacity to regenerate any part of their body. New tissues are generated in a process that requires many swift cell divisions. How costly is this process to an animal in terms of mutational load remains unknown. Using whole genome sequencing, we defined the mutational profile of the process of regeneration in the planarian species Schmidtea polychroa. We assembled de novo the genome of S. polychroa and analyzed mutations in animals that have undergone regeneration. We observed a threefold increase in the number of mutations and an altered mutational spectrum. High allele frequencies of subclonal mutations in regenerated animals suggested that most of the cells in the regenerated animal were descendants of a small number of stem cells with high expansion potential. We provide, for the first time, the draft genome assembly of S. polychroa, an estimation of the germline mutation rate for a planarian species and the mutational spectrum of the regeneration process of a living organism.}, year = {2024}, eissn = {1362-4962}, orcid-numbers = {Vermezovic, Jelena/0000-0003-0408-5681} } @article{MTMT:34256499, title = {CYP1A2 expression rather than genotype is associated with olanzapine concentration in psychiatric patients}, url = {https://m2.mtmt.hu/api/publication/34256499}, author = {Fekete, Ferenc and Menus, Ádám and Tóth, Katalin and Kiss, Ádám Ferenc and Minus, Annamária and Sirok, Dávid and Belič, Aleš and Póti, Ádám and Csukly, Gábor and Monostory, Katalin}, doi = {10.1038/s41598-023-45752-6}, journal-iso = {SCI REP}, journal = {SCIENTIFIC REPORTS}, volume = {13}, unique-id = {34256499}, issn = {2045-2322}, abstract = {Olanzapine is a commonly prescribed atypical antipsychotic agent for treatment of patients with schizophrenia and bipolar disorders. Previous in vitro studies using human liver microsomes identified CYP1A2 and CYP2D6 enzymes being responsible for CYP-mediated metabolism of olanzapine. The present work focused on the impact of CYP1A2 and CYP2D6 genetic polymorphisms as well as of CYP1A2 metabolizing capacity influenced by non-genetic factors (sex, age, smoking) on olanzapine blood concentration in patients with psychiatric disorders (N = 139). CYP2D6 genotype-based phenotype appeared to have negligible contribution to olanzapine metabolism, whereas a dominant role of CYP1A2 in olanzapine exposure was confirmed. However, CYP1A2 expression rather than CYP1A2 genetic variability was demonstrated to be associated with olanzapine concentration in patients. Significant contribution of − 163C > A (rs762551), the most common SNP (single nucleotide polymorphism) in CYP1A2 gene, to enhanced inducibility was confirmed by an increase in CYP1A2 mRNA expression in smokers carrying − 163A, and smoking was found to have appreciable impact on olanzapine concentration normalized by the dose/bodyweight. Furthermore, patients’ olanzapine exposure was in strong association with CYP1A2 expression; therefore, assaying CYP1A2 mRNA level in leukocytes can be an appropriate tool for the estimation of patients’ olanzapine metabolizing capacity and may be relevant in optimizing olanzapine dosage.}, year = {2023}, eissn = {2045-2322}, orcid-numbers = {Menus, Ádám/0000-0002-4294-9260; Minus, Annamária/0009-0003-4199-3942; Csukly, Gábor/0000-0002-5006-9407} } @article{MTMT:34117784, title = {Potential Association of Cytochrome P450 Copy Number Alteration in Tumour with Chemotherapy Resistance in Lung Adenocarcinoma Patients}, url = {https://m2.mtmt.hu/api/publication/34117784}, author = {Incze, Evelyn and Mangó, Katalin and Fekete, Ferenc and Kiss, Ádám Ferenc and Póti, Ádám and Harkó, T and Moldvay, Judit and Szüts, Dávid and Monostory, Katalin}, doi = {10.3390/ijms241713380}, journal-iso = {INT J MOL SCI}, journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES}, volume = {24}, unique-id = {34117784}, issn = {1661-6596}, year = {2023}, eissn = {1422-0067} } @article{MTMT:34083629, title = {Spontaneous mutagenesis in human cells is controlled by REV1-Polymerase ζ and PRIMPOL}, url = {https://m2.mtmt.hu/api/publication/34083629}, author = {Gyüre, Zsolt Tamás and Póti, Ádám and Németh, Eszter and Szikriszt, Bernadett and Lózsa, Rita Bernadett and Krawczyk, Michał and Richardson, Andrea L. and Szüts, Dávid}, doi = {10.1016/j.celrep.2023.112887}, journal-iso = {CELL REP}, journal = {CELL REPORTS}, volume = {42}, unique-id = {34083629}, issn = {2211-1247}, year = {2023}, eissn = {2211-1247}, orcid-numbers = {Lózsa, Rita Bernadett/0000-0001-5957-906X} } @mastersthesis{MTMT:33614971, title = {A DNS-hibaelkerülés genomi lenyomatainak vizsgálata}, url = {https://m2.mtmt.hu/api/publication/33614971}, author = {Póti, Ádám}, unique-id = {33614971}, year = {2022} } @article{MTMT:32730598, title = {Prospectively-defined patterns of APOBEC3A mutagenesis are prevalent in human cancers}, url = {https://m2.mtmt.hu/api/publication/32730598}, author = {Rachel, A. DeWeerd and Németh, Eszter and Póti, Ádám and Nataliya, Petryk and Chunlong, Chen and Olivier, Hyrien and Szüts, Dávid and Abby, Margaret Green}, doi = {10.1016/j.celrep.2022.110555}, journal-iso = {CELL REP}, journal = {CELL REPORTS}, volume = {38}, unique-id = {32730598}, issn = {2211-1247}, year = {2022}, eissn = {2211-1247} } @article{MTMT:32679015, title = {Characterisation of the spectrum and genetic dependence of collateral mutations induced by translesion DNA synthesis}, url = {https://m2.mtmt.hu/api/publication/32679015}, author = {Póti, Ádám and Szikriszt, Bernadett and Gervai, Judit Zsuzsanna and Chen, Dan and Szüts, Dávid}, doi = {10.1371/journal.pgen.1010051}, journal-iso = {PLOS GENET}, journal = {PLOS GENETICS}, volume = {18}, unique-id = {32679015}, issn = {1553-7390}, year = {2022}, eissn = {1553-7404} } @article{MTMT:32586615, title = {BRCA1 deficiency specific base substitution mutagenesis is dependent on translesion synthesis and regulated by 53BP1}, url = {https://m2.mtmt.hu/api/publication/32586615}, author = {Chen, Dan and Gervai, Judit Zsuzsanna and Póti, Ádám and Németh, Eszter and Szeltner, Zoltán and Szikriszt, Bernadett and Gyüre, Zsolt Tamás and Zámborszky, Judit and Ceccon, Marta and d’Adda di Fagagna, Fabrizio and Szállási, Zoltán and Richardson, Andrea L. and Szüts, Dávid}, doi = {10.1038/s41467-021-27872-7}, journal-iso = {NAT COMMUN}, journal = {NATURE COMMUNICATIONS}, volume = {13}, unique-id = {32586615}, issn = {2041-1723}, year = {2022}, eissn = {2041-1723}, orcid-numbers = {d’Adda di Fagagna, Fabrizio/0000-0002-9603-5966; Szállási, Zoltán/0000-0001-5395-7509; Richardson, Andrea L./0000-0001-5221-1094} } @article{MTMT:32341173, title = {Epistasis, aneuploidy, and functional mutations underlie evolution of resistance to induced microtubule depolymerization}, url = {https://m2.mtmt.hu/api/publication/32341173}, author = {Pavani, M. and Bonaiuti, P. and Chiroli, E. and Gross, F. and Natali, F. and Macaluso, F. and Póti, Ádám and Pasqualato, S. and Farkas, Zoltán and Pompei, S. and Cosentino, Lagomarsino M. and Rancati, G. and Szüts, Dávid and Ciliberto, Andrea}, doi = {10.15252/embj.2021108225}, journal-iso = {EMBO J}, journal = {EMBO JOURNAL}, volume = {40}, unique-id = {32341173}, issn = {0261-4189}, abstract = {Cells with blocked microtubule polymerization are delayed in mitosis, but eventually manage to proliferate despite substantial chromosome missegregation. While several studies have analyzed the first cell division after microtubule depolymerization, we have asked how cells cope long-term with microtubule impairment. We allowed 24 clonal populations of yeast cells with beta-tubulin mutations preventing proper microtubule polymerization, to evolve for ˜150 generations. At the end of the laboratory evolution experiment, cells had regained the ability to form microtubules and were less sensitive to microtubule-depolymerizing drugs. Whole-genome sequencing identified recurrently mutated genes, in particular for tubulins and kinesins, as well as pervasive duplication of chromosome VIII. Recreating these mutations and chromosome VIII disomy prior to evolution confirmed that they allow cells to compensate for the original mutation in beta-tubulin. Most of the identified mutations did not abolish function, but rather restored microtubule functionality. Analysis of the temporal order of resistance development in independent populations repeatedly revealed the same series of events: disomy of chromosome VIII followed by a single additional adaptive mutation in either tubulins or kinesins. Since tubulins are highly conserved among eukaryotes, our results have implications for understanding resistance to microtubule-targeting drugs widely used in cancer therapy. © 2021 IFOM – the FIRC Institute of Molecular Oncology}, keywords = {CHROMOSOME SEGREGATION; laboratory evolution; microtubule dynamics; resistance to antimitotics}, year = {2021}, eissn = {1460-2075} }