dc.contributor.author | Yurchenko, Andrey A. | |
dc.contributor.author | Padioleau, Ismael | |
dc.contributor.author | Matkarimov, Bakhyt T. | |
dc.contributor.author | Soulier, Jean | |
dc.contributor.author | Sarasin, Alain | |
dc.contributor.author | Nikolaev, Sergey | |
dc.date.accessioned | 2021-02-02T04:49:03Z | |
dc.date.available | 2021-02-02T04:49:03Z | |
dc.date.issued | 2020-11-17 | |
dc.identifier.citation | Yurchenko, A. A., Padioleau, I., Matkarimov, B. T., Soulier, J., Sarasin, A., & Nikolaev, S. (2020). XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-19633-9 | en_US |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://doi.org/10.1038/s41467-020-19633-9 | |
dc.identifier.uri | https://www.nature.com/articles/s41467-020-19633-9 | |
dc.identifier.uri | http://nur.nu.edu.kz/handle/123456789/5269 | |
dc.description.abstract | Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). The genetic mechanisms of non-skin cancers in XP-C patients remain unexplored. In this study, we analyze a unique collection of internal XP-C tumor genomes including 6 leukemias and 2 sarcomas. We observe a specific mutational pattern and an average of 25-fold increase of mutation rates in XP-C versus sporadic leukemia which we presume leads to its elevated incidence and early appearance. We describe a strong mutational asymmetry with respect to transcription and the direction of replication in XP-C tumors suggesting association of mutagenesis with bulky purine DNA lesions of probably endogenous origin. These findings suggest existence of a balance between formation and repair of bulky DNA lesions by GG-NER in human body cells which is disrupted in XP-C patients. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Nature Research | en_US |
dc.relation.ispartofseries | Nature Communications;11 | |
dc.rights | Attribution-NonCommercial-ShareAlike 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/3.0/us/ | * |
dc.subject | Xeroderma Pigmentosum group C | en_US |
dc.subject | XPC | en_US |
dc.subject | hematologic malignancies | en_US |
dc.subject | mutator phenotype | en_US |
dc.subject | mutational signature | en_US |
dc.subject | Research Subject Categories::NATURAL SCIENCES | en_US |
dc.title | XPC DEFICIENCY INCREASES RISK OF HEMATOLOGIC MALIGNANCIES THROUGH MUTATOR PHENOTYPE AND CHARACTERISTIC MUTATIONAL SIGNATURE | en_US |
dc.type | Article | en_US |
workflow.import.source | science |
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