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Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos [article]

Elena Lo Furno, Isabelle Busseau, Claudio Lorenzi, Cima Saghira, Stephan Zuchner, Domenico Maiorano
2020 bioRxiv   pre-print
In early embryogenesis of fast cleaving embryos DNA synthesis is short and surveillance mechanisms preserving genome integrity are inefficient implying the possible generation of mutations. We have analyzed mutagenesis in Xenopus laevis and Drosophila melanogaster early embryos. We report the occurrence of a high mutation rate in Xenopus and show that it is dependent upon the translesion DNA synthesis (TLS) master regulator Rad18. Unexpectedly, we observed a homology-directed repair
more » ... of Rad18 in reducing the mutation load. Genetic invalidation of TLS in the pre-blastoderm Drosophila embryo resulted in reduction of both the hatching rate and Single Nucleotide Variations on specific chromosome regions in adult flies. Altogether, these findings indicate that during very early Xenopus and Drosophila embryos TLS strongly contributes to the high mutation rate. This may constitute a previously unforeseen source of genetic diversity contributing to the polymorphisms of each individual with implications for genome evolution and species adaptation.
doi:10.1101/2020.11.28.401471 fatcat:klafgaknfjhmte5ly5oug7mvzi

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Lassuthova, Adriana P. Rebelo, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Fiore Manganelli, Shawna M. Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlova, Radim Mazanec, Feifei Tao (+22 others)
2018 American Journal of Human Genetics  
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in greater than 50% of affected individuals. The discovery of additional genes that harbor CMT2-causing mutations increasingly depends on sharing sequence data on a global level. In this way -by combining data from four continents, including seven countrieswe were able to define mutations in ATP1A1, which
doi:10.1016/j.ajhg.2018.01.023 pmid:29499166 pmcid:PMC5985288 fatcat:462cdgm3dvgdpfdds2co44ecnq

Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos

Elena Lo Furno, Isabelle Busseau, Antoine Aze, Claudio Lorenzi, Cima Saghira, Matt C Danzi, Stephan Zuchner, Domenico Maiorano
2021
In early embryogenesis of fast cleaving embryos, DNA synthesis is short and surveillance mechanisms preserving genome integrity are inefficient, implying the possible generation of mutations. We have analyzed mutagenesis in Xenopus laevis and Drosophila melanogaster early embryos. We report the occurrence of a high mutation rate in Xenopus and show that it is dependent upon the translesion DNA synthesis (TLS) master regulator Rad18. Unexpectedly, we observed a homology-directed repair
more » ... on of Rad18 in reducing the mutation load. Genetic invalidation of TLS in the pre-blastoderm Drosophila embryo resulted in reduction of both the hatching rate and single-nucleotide variations on pericentromeric heterochromatin in adult flies. Altogether, these findings indicate that during very early Xenopus and Drosophila embryos TLS strongly contributes to the high mutation rate. This may constitute a previously unforeseen source of genetic diversity contributing to the polymorphisms of each individual with implications for genome evolution and species adaptation.
doi:10.1093/nar/gkab1223 pmid:34939656 pmcid:PMC8789082 fatcat:t7hr23zcyrhlvdm3hxzxdwjeyq

ВИЗНАЧАЛЬНА РОЛЬ МІКРОБІОМА У ПАТОГЕНЕЗІ АЛЕРГІЧНИХ ЗАХВОРЮВАНЬ. ПЕРСПЕКТИВИ ПЕРСОНАЛІЗОВАНОЇ ЛАБОРАТОРНОЇ ДІАГНОСТИКИ ТА ТЕРАПІЇ

Aleksey Gareev
2022 Immunology and Allergy: Science and Practice  
David Stanek, Dana M Bis-Brewer, Cima Saghira, Matt C Danzi, Pavel Seeman, Petra Lassuthova, Stephan Zuchner, Prot2HG: a da-tabase of protein domains mapped to the hu-man genome, Database, Volume 2020,  ... 
doi:10.37321/immunology.2021.4-05 fatcat:lcsfo22qmfh7xpc7p334exdr5e

Università degli Studi di Bologna Alma Mater Studiorum Dottorato di Ricerca in Archeologia, XIX ciclo L-OR/02 EGITTOLOGIA E CIVILTÀ COPTA IL TERRITORIO DEL FAYYUM NELL'ANTICHITÀ: IL SISTEMA IDROGRAFICO TRA CONTINUITÀ E INNOVAZIONE

Presentata, Dott Ssa, Anna Morini, Chiar Mo, Pernigotti, Chiar Ma, Raffaella Campanati
2006 unpublished
In seguito costruì lo sbarramento di al-Lahun e lo consolidò con grosse pietre, calce, mattoni crudi e conchiglie, formando un muro alto, sulla cima e nel mezzo del quale fece porre una porta.  ...  prossimità della costa del lago, solo i nomi di quattro si conservano nella carta del Survey, isola della grande chiesa "ilwet el-Kanayis el-kebira", e isola della piccola chiesa "ilwet el-Kanayis el-saghira  ... 
fatcat:q7yyo6vbirgadnspg4474ug5lq