{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:59:57Z","timestamp":1789541997862,"version":"build-2803163510"},"reference-count":69,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T00:00:00Z","timestamp":1706054400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFA0909400"],"award-info":[{"award-number":["2021YFA0909400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32341017"],"award-info":[{"award-number":["32341017"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["22225402"],"award-info":[{"award-number":["22225402"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["22374132"],"award-info":[{"award-number":["22374132"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Zhejiang Provincial Jianbing Lingyan Research and Development Project","award":["2023SDYXS0002"],"award-info":[{"award-number":["2023SDYXS0002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>An expansion of AAGGG pentanucleotide repeats in the replication factor C subunit 1 (RFC1) gene is the genetic cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), and it also links to several other neurodegenerative diseases including the Parkinson's disease. However, the pathogenic mechanism of RFC1 AAGGG repeat expansion remains enigmatic. Here, we report that the pathogenic RFC1 AAGGG repeats form DNA and RNA parallel G-quadruplex (G4) structures that play a role in impairing biological processes. We determine the first high-resolution nuclear magnetic resonance (NMR) structure of a bimolecular parallel G4 formed by d(AAGGG)2AA and reveal how AAGGG repeats fold into a higher-order structure composed of three G-tetrad layers, and further demonstrate the formation of intramolecular G4s in longer DNA and RNA repeats. The pathogenic AAGGG repeats, but not the nonpathogenic AAAAG repeats, form G4 structures to stall DNA replication and reduce gene expression via impairing the translation process in a repeat-length-dependent manner. Our results provide an unprecedented structural basis for understanding the pathogenic mechanism of AAGGG repeat expansion associated with CANVAS. In addition, the high-resolution structures resolved in this study will facilitate rational design of small-molecule ligands and helicases targeting G4s formed by AAGGG repeats for therapeutic interventions.<\/jats:p>","DOI":"10.1093\/nar\/gkae032","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T19:22:22Z","timestamp":1706124142000},"page":"2698-2710","source":"Crossref","is-referenced-by-count":25,"title":["Structural investigation of pathogenic <i>RFC1<\/i> AAGGG pentanucleotide repeats reveals a role of G-quadruplex in dysregulated gene expression in CANVAS"],"prefix":"10.1093","volume":"52","author":[{"given":"Yang","family":"Wang","sequence":"first","affiliation":[{"name":"School of Materials Science and Engineering, Tianjin University , Tianjin\u00a0 300350 , China"},{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenzhen","family":"Yan","sequence":"additional","affiliation":[{"name":"School of Biology and Biological Engineering, South China University of Technology , Guangzhou , Guangdong\u00a0 510006 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianing","family":"Hou","sequence":"additional","affiliation":[{"name":"Institute of Molecular Medicine (IMM) Renji Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai\u00a0 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqi","family":"Wan","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingquan","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Biology and Biological Engineering, South China University of Technology , Guangzhou , Guangdong\u00a0 510006 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Yi","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7760-5786","authenticated-orcid":false,"given":"Pei","family":"Guo","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-2964","authenticated-orcid":false,"given":"Da","family":"Han","sequence":"additional","affiliation":[{"name":"Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences , Hangzhou , Zhejiang\u00a0 310022 , China"},{"name":"Institute of Molecular Medicine (IMM) Renji Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai\u00a0 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,24]]},"reference":[{"key":"2024032102113543400_B1","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/nrg.2017.115","article-title":"Tandem repeats mediating genetic plasticity in health and disease","volume":"19","author":"Hannan","year":"2018","journal-title":"Nat. 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