BROWSE

Related Scientist

kim,hyunsuk's photo.

kim,hyunsuk
유전체항상성연구단
more info

ITEM VIEW & DOWNLOAD

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

DC Field Value Language
dc.contributor.authorApelt, Katja-
dc.contributor.authorWhite, Susan M.-
dc.contributor.authorHyun Suk Kim-
dc.contributor.authorJung-Eun Yeo-
dc.contributor.authorKragten, Angela-
dc.contributor.authorWondergem, Annelotte P.-
dc.contributor.authorRooimans, Martin A.-
dc.contributor.authorGonzález-Prieto, Román-
dc.contributor.authorWiegant, Wouter W.-
dc.contributor.authorLunke, Sebastian-
dc.contributor.authorFlanagan, Daniel-
dc.contributor.authorPantaleo, Sarah-
dc.contributor.authorQuinlan, Catherine-
dc.contributor.authorHardikar, Winita-
dc.contributor.authorvan Attikum, Haico-
dc.contributor.authorVertegaal, Alfred C O-
dc.contributor.authorWilson, Brian T.-
dc.contributor.authorWolthuis, Rob M F-
dc.contributor.authorOrlando D. Schärer-
dc.contributor.authorLuijsterburg, Martijn S.-
dc.date.accessioned2021-03-16T08:50:04Z-
dc.date.accessioned2021-03-16T08:50:04Z-
dc.date.available2021-03-16T08:50:04Z-
dc.date.available2021-03-16T08:50:04Z-
dc.date.created2021-02-23-
dc.date.issued2021-03-01-
dc.identifier.issn0022-1007-
dc.identifier.urihttps://pr.ibs.re.kr/handle/8788114/9207-
dc.description.abstractERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER), interstrand cross-link (ICL) repair, and DNA double-strand break (DSB) repair. Only two patients with bi-allelic ERCC1 mutations have been reported, both of whom had features of Cockayne syndrome and died in infancy. Here, we describe two siblings with bi-allelic ERCC1 mutations in their teenage years. Genomic sequencing identified a deletion and a missense variant (R156W) within ERCC1 that disrupts a salt bridge below the XPA-binding pocket. Patient-derived fibroblasts and knock-in epithelial cells carrying the R156W substitution show dramatically reduced protein levels of ERCC1 and XPF. Moreover, mutant ERCC1 weakly interacts with NER and ICL repair proteins, resulting in diminished recruitment to DNA damage. Consequently, patient cells show strongly reduced NER activity and increased chromosome breakage induced by DNA cross-linkers, while DSB repair was relatively normal. We report a new case of ERCC1 deficiency that severely affects NER and considerably impacts ICL repair, which together result in a unique phenotype combining short stature, photosensitivity, and progressive liver and kidney dysfunction.-
dc.language영어-
dc.publisherRockefeller University Press-
dc.titleERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients-
dc.typeArticle-
dc.type.rimsART-
dc.identifier.wosid000625357900004-
dc.identifier.scopusid2-s2.0-85098530941-
dc.identifier.rimsid74506-
dc.contributor.affiliatedAuthorHyun Suk Kim-
dc.contributor.affiliatedAuthorJung-Eun Yeo-
dc.contributor.affiliatedAuthorOrlando D. Schärer-
dc.identifier.doi10.1084/jem.20200622-
dc.identifier.bibliographicCitationJournal of Experimental Medicine, v.218, no.3, pp.1 - 25-
dc.relation.isPartOfJournal of Experimental Medicine-
dc.citation.titleJournal of Experimental Medicine-
dc.citation.volume218-
dc.citation.number3-
dc.citation.startPage1-
dc.citation.endPage25-
dc.type.docTypeArticle-
dc.description.journalClass1-
dc.description.journalClass1-
dc.description.isOpenAccessN-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
dc.relation.journalResearchAreaImmunology-
dc.relation.journalResearchAreaResearch & Experimental Medicine-
dc.relation.journalWebOfScienceCategoryImmunology-
dc.relation.journalWebOfScienceCategoryMedicine, Research & Experimental-
dc.subject.keywordPlusCLINICAL-FEATURES-
dc.subject.keywordPlusULTRAVIOLET-B-
dc.subject.keywordPlusNUCLEOTIDE EXCISION-REPAIR-
dc.subject.keywordPlusFANCONI-ANEMIA-
dc.subject.keywordPlusXERODERMA-PIGMENTOSUM-
dc.subject.keywordPlusCOCKAYNE-SYNDROME-
dc.subject.keywordPlusHOMOLOGOUS RECOMBINATION-
dc.subject.keywordPlusCOMPUTATIONAL PLATFORM-
dc.subject.keywordPlusNUCLEAR ABNORMALITIES-
dc.subject.keywordPlusINTERACTION DOMAINS-
Appears in Collections:
Center for Genomic Integrity(유전체 항상성 연구단) > 1. Journal Papers (저널논문)
Files in This Item:
There are no files associated with this item.

qrcode

  • facebook

    twitter

  • Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse