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@article{2355898, author = {Hašanová, Zdenka and Klápšťová, Veronika and Porrua, Odil and Štefl, Richard and Šebesta, Marek}, article_number = {6}, doi = {http://dx.doi.org/10.1093/nar/gkad092}, keywords = {RNA-POLYMERASE-II; OCULOMOTOR APRAXIA TYPE-2; SACCHAROMYCES-CEREVISIAE SEN1; GENOME INSTABILITY; REPLICATION CONFLICTS; RNA/DNA HYBRIDS; PAUSE SITES; INFO-RNA; HELICASE; ATAXIA}, language = {eng}, issn = {0305-1048}, journal = {Nucleic Acids Research}, title = {Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor}, url = {https://doi.org/10.1093/nar/gkad092}, volume = {51}, year = {2023} }
TY - JOUR ID - 2355898 AU - Hašanová, Zdenka - Klápšťová, Veronika - Porrua, Odil - Štefl, Richard - Šebesta, Marek PY - 2023 TI - Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor JF - Nucleic Acids Research VL - 51 IS - 6 SP - 2818-2837 EP - 2818-2837 PB - Oxford University Press SN - 03051048 KW - RNA-POLYMERASE-II KW - OCULOMOTOR APRAXIA TYPE-2 KW - SACCHAROMYCES-CEREVISIAE SEN1 KW - GENOME INSTABILITY KW - REPLICATION CONFLICTS KW - RNA/DNA HYBRIDS KW - PAUSE SITES KW - INFO-RNA KW - HELICASE KW - ATAXIA UR - https://doi.org/10.1093/nar/gkad092 N2 - Prolonged pausing of the transcription machinery may lead to the formation of three-stranded nucleic acid structures, called R-loops, typically resulting from the annealing of the nascent RNA with the template DNA. Unscheduled persistence of R-loops and RNA polymerases may interfere with transcription itself and other essential processes such as DNA replication and repair. Senataxin (SETX) is a putative helicase, mutated in two neurodegenerative disorders, which has been implicated in the control of R-loop accumulation and in transcription termination. However, understanding the precise role of SETX in these processes has been precluded by the absence of a direct characterisation of SETX biochemical activities. Here, we purify and characterise the helicase domain of SETX in parallel with its yeast orthologue, Sen1. Importantly, we show that SETX is a bona fide helicase with the ability to resolve R-loops. Furthermore, SETX has retained the transcription termination activity of Sen1 but functions in a species-specific manner. Finally, subsequent characterisation of two SETX variants harbouring disease-associated mutations shed light into the effect of such mutations on SETX folding and biochemical properties. Altogether, these results broaden our understanding of SETX function in gene expression and the maintenance of genome integrity and provide clues to elucidate the molecular basis of SETX-associated neurodegenerative diseases. ER -
HAŠANOVÁ, Zdenka, Veronika KLÁPŠŤOVÁ, Odil PORRUA, Richard ŠTEFL a Marek ŠEBESTA. Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor. \textit{Nucleic Acids Research}. Oxford University Press, 2023, roč.~51, č.~6, s.~2818-2837. ISSN~0305-1048. Dostupné z: https://dx.doi.org/10.1093/nar/gkad092.
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