{"id":1124347,"date":"2024-04-27T12:09:19","date_gmt":"2024-04-27T16:09:19","guid":{"rendered":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/uncategorized\/persistent-tfiih-binding-to-non-excised-dna-damage-causes-cell-and-developmental-failure-nature-com\/"},"modified":"2024-04-27T12:09:19","modified_gmt":"2024-04-27T16:09:19","slug":"persistent-tfiih-binding-to-non-excised-dna-damage-causes-cell-and-developmental-failure-nature-com","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/transhuman-news-blog\/dna\/persistent-tfiih-binding-to-non-excised-dna-damage-causes-cell-and-developmental-failure-nature-com\/","title":{"rendered":"Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure &#8211; Nature.com"},"content":{"rendered":"<p><p>        Schrer, O. D. Nucleotide excision repair in Eukaryotes.        Cold Spring Harb. Perspect. Biol. 5, a012609        (2013).      <\/p>\n<p>        Article        PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Marteijn, J. A., Lans, H., Vermeulen, W. & Hoeijmakers, J.        H. J. Understanding nucleotide excision repair and its        roles in cancer and ageing. Nat. Rev. Mol. Cell        Biol. 15, 465481 (2014).      <\/p>\n<p>        Article CAS PubMed                Google Scholar      <\/p>\n<p>        Mu, H., Geacintov, N. E., Broyde, S., Yeo, J. E. & Schrer,        O. D. Molecular basis for damage recognition and        verification by XPC-RAD23B and TFIIH in nucleotide excision        repair. DNA Repair 71, 3342 (2018). vol.      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Sugasawa, K. Molecular mechanisms of DNA damage recognition        for mammalian nucleotide excision repair. DNA Repair        (Amst.) 44, 110117 (2016).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Lans, H., Hoeijmakers, J. H. J., Vermeulen, W. & Marteijn,        J. A. The DNA damage response to transcription stress.        Nat. Rev. Mol. Cell Biol. 20, 766784 (2019).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Jia, N. et al. Dealing with transcription-blocking DNA        damage: Repair mechanisms, RNA polymerase II processing and        human disorders. DNA Repair (Amst.) 106,        103192 (2021).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Theil, A. F., Hckes, D. & Lans, H. TFIIH central activity        in nucleotide excision repair to prevent disease. DNA        Repair (Amst.) 132, 103568 (2023).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Bernardes de Jesus, B. M., Bjrs, M., Coin, F. & Egly, J.        M. Dissection of the Molecular Defects Caused by Pathogenic        Mutations in the DNA Repair Factor XPC. Mol. Cell.        Biol. 28, 72257235 (2008).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Okuda, M., Nakazawa, Y., Guo, C., Ogi, T. & Nishimura, Y.        Common TFIIH recruitment mechanism in global genome and        transcription-coupled repair subpathways. Nucleic Acids        Res. 45, 1304313055 (2017).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Oksenych, V., De Jesus, B. B., Zhovmer, A., Egly, J. M. &        Coin, F. Molecular insights into the recruitment of TFIIH        to sites of DNA damage. EMBO J. 28, 29712980        (2009).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        van der Weegen, Y. et al. The cooperative action of CSB,        CSA, and UVSSA target TFIIH to DNA damage-stalled RNA        polymerase II. Nat. Commun. 11, 116 (2020).      <\/p>\n<p>                Google Scholar      <\/p>\n<p>        Ribeiro-Silva, C. et al. Ubiquitin and TFIIH-stimulated        DDB2 dissociation drives DNA damage handover in nucleotide        excision repair. Nat. Commun. 11, 4868        (2020).      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Coin, F., Oksenych, V. & Egly, J. M. Distinct Roles for the        XPB\/p52 and XPD\/p44 Subcomplexes of TFIIH in Damaged DNA        Opening during Nucleotide Excision Repair. Mol. Cell        26, 245256 (2007).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Sugasawa, K., Akagi, Jichi, Nishi, R., Iwai, S. & Hanaoka,        F. Two-step recognition of DNA damage for mammalian        nucleotide excision repair: directional binding of the XPC        complex and DNA strand scanning. Mol. Cell        36, 642653 (2009).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Li, C. L. et al. Tripartite DNA lesion recognition and        verification by XPC, TFIIH, and XPA in nucleotide excision        repair. Mol. Cell 59, 10251034 (2015).      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        De Laat, W. L. et al. DNA-binding polarity of human        replication protein A positions nucleases in nucleotide        excision repair. Genes Dev. 12, 25982609        (1998).      <\/p>\n<p>        Article PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Matsunaga, T., Park, C. H., Bessho, T., Mu, D. & Sancar, A.        Replication protein A confers structure-specific        endonuclease activities to the XPF-ERCC1 and XPG subunits        of human DNA repair excision nuclease. J. Biol.        Chem. 271, 1104711050 (1996).      <\/p>\n<p>        Article CAS PubMed                Google Scholar      <\/p>\n<p>        Sugitani, N., Sivley, R. M., Perry, K. E., Capra, J. A. &        Chazin, W. J. XPA: A key scaffold for human nucleotide        excision repair. DNA Repair 44, 123135        (2016).      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Kokic, G. et al. Structural basis of TFIIH activation for        nucleotide excision repair. Nat. Commun. 10,        2885 (2019).      <\/p>\n<p>        Article        PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Coin, F. et al. Nucleotide Excision Repair Driven by the        Dissociation of CAK from TFIIH. Mol. Cell 31,        920 (2008).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Staresincic, L. et al. Coordination of dual incision and        repair synthesis in human nucleotide excision repair.        EMBO J. 28, 11111120 (2009).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Fagbemi, A. F., Orelli, B. & Schrer, O. D. Regulation of        endonuclease activity in human nucleotide excision repair.        DNA Repair (Amst.) 10, 722729 (2011).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Muniesa-Vargas, A. et al. XPG: a multitasking genome        caretaker. Cell. Mol. Life Sci. 79, 120        (2022).      <\/p>\n<p>        Article                Google Scholar      <\/p>\n<p>        van Toorn, M. et al. Active DNA damage eviction by HLTF        stimulates nucleotide excision repair. Mol. Cell        82, 13431358.e8 (2022).      <\/p>\n<p>        Article        PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Ogi, T. et al. Three DNA polymerases, recruited by        different mechanisms, carry out NER repair synthesis in        human cells. Mol. Cell 37, 714727 (2010).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Ferri, D., Orioli, D. & Botta, E. Heterogeneity and        overlaps in nucleotide excision repair disorders. Clin.        Genet. 97, 1224 (2020).      <\/p>\n<p>        Article CAS PubMed                Google Scholar      <\/p>\n<p>        Lehmann, A. R., McGibbon, D. & Stefanini, M. Xeroderma        pigmentosum. Orphanet J. Rare Dis. 6, 70        (2011).      <\/p>\n<p>        Article PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Natale, V. A comprehensive description of the severity        groups in Cockayne syndrome. Am. J. Med. Genet. A        155A, 10811095 (2011).      <\/p>\n<p>        Article PubMed                Google Scholar      <\/p>\n<p>        Natale, V. & Raquer, H. Xeroderma pigmentosum-Cockayne        syndrome complex. Orphanet J. Rare Dis. 12,        65 (2017).      <\/p>\n<p>        Article        PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Kraemer, K. H. et al. Xeroderma pigmentosum,        trichothiodystrophy and Cockayne syndrome: A complex        genotype-phenotype relationship. Neuroscience        145, 13881396 (2007).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Theil, A. F., Hoeijmakers, J. H. J. & Vermeulen, W. TTDA:        big impact of a small protein. Exp. Cell Res.        329, 6168 (2014).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Stefanini, M., Botta, E., Lanzafame, M. & Orioli, D.        Trichothiodystrophy: From basic mechanisms to clinical        implications. DNA Repair 9, 210 (2010).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Rahbar, Z. & Naraghi, M. De Sanctis-Cacchione syndrome: A        case report and literature review. Int. J. Womens        Dermatol. 1, 136139 (2015).      <\/p>\n<p>        Article                Google Scholar      <\/p>\n<p>        Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E.,        Croteau, D. L. & Bohr, V. A. Cockayne syndrome: Clinical        features, model systems and pathways. Ageing Res.        Rev. 33, 317 (2017).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Wang, Y. et al. Dysregulation of gene expression as a cause        of cockayne syndrome neurological disease. Proc. Natl        Acad. Sci. Usa. 111, 1445414459 (2014).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Vlez-Cruz, R. & Egly, J. M. Cockayne syndrome group B        (CSB) protein: At the crossroads of transcriptional        networks. Mech. Ageing Dev. 134, 234242        (2013).      <\/p>\n<p>        Article        PubMed                Google Scholar      <\/p>\n<p>        Sabatella, M. et al. Repair protein persistence at DNA        lesions characterizes XPF defect with Cockayne syndrome        features. Nucleic Acids Res. 46, 95639577        (2018).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Lans, H. & Vermeulen, W. Tissue specific response to DNA        damage: C. elegans as role model. DNA Repair (Amst.)        32, 141148 (2015).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Hoogstraten, D. et al. Rapid switching of TFIIH between RNA        polymerase I and II transcription and DNA repair in vivo.        Mol. Cell 10, 11631174 (2002).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Vermeulen, W. Dynamics of mammalian NER proteins. DNA        Repair (Amst.) 10, 760771 (2011).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Fassihi, H. et al. Deep phenotyping of 89 xeroderma        pigmentosum patients reveals unexpected heterogeneity        dependent on the precise molecular defect. Proc. Natl        Acad. Sci. Usa. 113, E1236E1245 (2016).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Kashiyama, K. et al. Malfunction of nuclease ERCC1-XPF        results in diverse clinical manifestations and causes        Cockayne syndrome, xeroderma pigmentosum, and Fanconi        anemia. Am. J. Hum. Genet. 92, 807819        (2013).      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Sijbers, A. M. et al. Xeroderma pigmentosum group F caused        by a defect in a structure-specific DNA repair        endonuclease. Cell 86, 811822 (1996).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Ahmad, A. et al. Mislocalization of XPF-ERCC1 nuclease        contributes to reduced DNA repair in XP-F patients. PLoS        Genet 6, e1000871 (2010).      <\/p>\n<p>        Article        PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Jia, N. et al. A rapid, comprehensive system for assaying        DNA repair activity and cytotoxic effects of DNA-damaging        reagents. Nat. Protoc. 10, 1224 (2015).      <\/p>\n<p>        Article CAS PubMed                Google Scholar      <\/p>\n<p>        Llerena Schiffmacher, D. A. et al. Live cell        transcription-coupled nucleotide excision repair dynamics        revisited. DNA Repair (Amst.) 130, 103566        (2023).      <\/p>\n<p>        Article        CAS PubMed                Google Scholar      <\/p>\n<p>        Geijer, M. E. et al. Elongation factor ELOF1 drives        transcription-coupled repair and prevents genome        instability. Nat. Cell Biol. 23, 608619        (2021).      <\/p>\n<p>        Article        CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Kim, D. E. et al. Deficiency in the DNA repair protein        ERCC1 triggers a link between senescence and apoptosis in        human fibroblasts and mouse skin. Aging Cell        19, e13072 (2020).      <\/p>\n<p>        Article MathSciNet        CAS PubMed                Google Scholar      <\/p>\n<p>        Harada, Y.-N. et al. Postnatal Growth Failure, Short Life        Span, and Early Onset of Cellular Senescence and Subsequent        Immortalization in Mice Lacking the Xeroderma Pigmentosum        Group G Gene. Mol. Cell. Biol. 19, 2366        (1999).      <\/p>\n<p>        Article CAS PubMed        PubMed        Central         Google Scholar      <\/p>\n<p>        Niedernhofer, L. J. et al. A new progeroid syndrome reveals        that genotoxic stress suppresses the somatotroph axis.        Nature 444, 10381043 (2006).      <\/p>\n<p>        Article CAS PubMed                Google Scholar      <\/p>\n<p><!-- Auto Generated --><\/p>\n<p>Excerpt from:<br \/>\n<a target=\"_blank\" href=\"https:\/\/www.nature.com\/articles\/s41467-024-47935-9\" title=\"Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure - Nature.com\" rel=\"noopener\">Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure - Nature.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p> Schrer, O. D <a href=\"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/transhuman-news-blog\/dna\/persistent-tfiih-binding-to-non-excised-dna-damage-causes-cell-and-developmental-failure-nature-com\/\">Continue reading <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[],"class_list":["post-1124347","post","type-post","status-publish","format-standard","hentry","category-dna"],"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts\/1124347"}],"collection":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/comments?post=1124347"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/posts\/1124347\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/media?parent=1124347"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/categories?post=1124347"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/prometheism-transhumanism-posthumanism\/wp-json\/wp\/v2\/tags?post=1124347"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}