Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities

Liu, Sijia; Shinohara, Akira; Furukohri, Asako

doi:https://doi.org/10.1016/j.jbc.2023.105424

Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities

Liu, Sijia; Shinohara, Akira; Furukohri, Asako

Journal of Biological Chemistry, 2023, 299(12), 105424

アクセス数:369件（2025-08-14 17:12 集計）

固定URL: https://hdl.handle.net/11094/93374

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タイトル	Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities
著者	著者名 Liu, Sijia
	NRID 1000000252578 1000000252578 ORCID 0000-0003-4207-8247 0000-0003-4207-8247 researchmap permalink akirashinohara13 akirashinohara13 Scopus Author ID 7102342573 7102342573 著者名 Shinohara, Akira
	NRID 1000090546293 1000090546293 researchmap permalink afurukohri afurukohri Scopus Author ID 25228605000 25228605000 著者名 Furukohri, Asako
キーワード等	DNA binding protein
	DNA repair
	Fanconi anemia
	homologous recombination
	RAD51
内容	Liu S., Shinohara A., Furukohri A.. Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities. Journal of Biological Chemistry 299, 105424 (2023); https://doi.org/10.1016/j.jbc.2023.105424.
抄録	Fanconi anemia (FA) is a rare genetic disease caused by a defect in DNA repair pathway for DNA interstrand crosslinks. These crosslinks can potentially impede the progression of the DNA replication fork, consequently leading to DNA double-strand breaks. Heterozygous RAD51-Q242R mutation has been reported to cause FA-like symptoms. However, the molecular defect of RAD51 underlying the disease is largely unknown. In this study, we conducted a biochemical analysis of RAD51-Q242R protein, revealing notable deficiencies in its DNA-dependent ATPase activity and its ATP-dependent regulation of DNA-binding activity. Interestingly, although RAD51-Q242R exhibited the filament instability and lacked the ability to form displacement loop, it efficiently stimulated the formation of displacement loops mediated by wild-type RAD51. These findings facilitate understanding of the biochemical properties of the mutant protein and how RAD51 works in the FA patient cells.
出版者	American Society for Biochemistry and Molecular Biology Inc.
収録物名	Journal of Biological Chemistry
巻(号)	299(12)
ページ	105424
刊行年月	2023-12-01
言語	英語
ハンドルURL	https://hdl.handle.net/11094/93374
PISSN	00219258
eISSN	1083351X
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1016/j.jbc.2023.105424
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Journal of Biological Chemistry. 2023, 299(12), p. 105424
DC.title	Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities
DC.creator	Liu, Sijia
	Shinohara, Akira
	Furukohri, Asako
DC.publisher	American Society for Biochemistry and Molecular Biology Inc.
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2023-12-01
DC.identifier	https://doi.org/10.1016/j.jbc.2023.105424
DC.subject	DNA binding protein
	DNA repair
	Fanconi anemia
	homologous recombination
	RAD51
DC.description	Liu S., Shinohara A., Furukohri A.. Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities. Journal of Biological Chemistry 299, 105424 (2023); https://doi.org/10.1016/j.jbc.2023.105424.
DCTERMS.abstract	Fanconi anemia (FA) is a rare genetic disease caused by a defect in DNA repair pathway for DNA interstrand crosslinks. These crosslinks can potentially impede the progression of the DNA replication fork, consequently leading to DNA double-strand breaks. Heterozygous RAD51-Q242R mutation has been reported to cause FA-like symptoms. However, the molecular defect of RAD51 underlying the disease is largely unknown. In this study, we conducted a biochemical analysis of RAD51-Q242R protein, revealing notable deficiencies in its DNA-dependent ATPase activity and its ATP-dependent regulation of DNA-binding activity. Interestingly, although RAD51-Q242R exhibited the filament instability and lacked the ability to form displacement loop, it efficiently stimulated the formation of displacement loops mediated by wild-type RAD51. These findings facilitate understanding of the biochemical properties of the mutant protein and how RAD51 works in the FA patient cells.
DC.rights	This article is licensed under a Creative Commons Attribution 4.0 International License.
DC.format	93374
citation_title	Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities
citation_author	Liu, Sijia
	Shinohara, Akira
	Furukohri, Asako
citation_publisher	American Society for Biochemistry and Molecular Biology Inc.
citation_language	英語
citation_date	2023-12-01
citation_journal_title	Journal of Biological Chemistry
citation_volume	299
citation_issue	12
citation_firstpage	105424
citation_doi	https://doi.org/10.1016/j.jbc.2023.105424
citation_public_url	https://hdl.handle.net/11094/93374

Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities

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