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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

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dc.contributor.authorCCS-
dc.contributor.authorOh, Doo-Yi-
dc.contributor.authorYi, Eunyoung-
dc.contributor.authorLiu, Xuezhong-
dc.contributor.authorLing, Jie-
dc.contributor.authorKim, Nayoung-
dc.contributor.authorSharma, Kushal-
dc.contributor.authorTai Young Kim-
dc.contributor.authorLee, Seungmin-
dc.contributor.authorKim, Ah-Reum-
dc.contributor.authorKim, Min Young-
dc.contributor.authorKim, Min-A-
dc.contributor.authorLee, Mingyu-
dc.contributor.authorHan, Jin-Hee-
dc.contributor.authorHan, Jae Joon-
dc.contributor.authorPark, Hye-Rim-
dc.contributor.authorKim, Bong Jik-
dc.contributor.authorLee, Sang-Yeon-
dc.contributor.authorWoo, Dong Ho-
dc.contributor.authorOh, Jayoung-
dc.contributor.authorOh, Soo-Jin-
dc.contributor.authorDu, Tingting-
dc.contributor.authorKoo, Ja-Won-
dc.contributor.authorOh, Seung-Ha-
dc.contributor.authorShin, Hyun-Woo-
dc.contributor.authorSeong, Moon-Woo-
dc.contributor.authorLee, Kyu-Yup-
dc.contributor.authorKim, Un-Kyung-
dc.contributor.authorShin, Jung Bum-
dc.contributor.authorSang, Shushan-
dc.contributor.authorCai, Xinzhang-
dc.contributor.authorMei, Lingyun-
dc.contributor.authorHe, Chufeng-
dc.contributor.authorBlanton, Susan H.-
dc.contributor.authorChen, Zheng-Yi-
dc.contributor.authorChen, Hongsheng-
dc.contributor.authorLiu, Xianlin-
dc.contributor.authorNourbakhsh, Aida-
dc.contributor.authorHuang, Zaohua-
dc.contributor.authorKang, Kwon-Woo-
dc.contributor.authorPark, Woong-Yang-
dc.contributor.authorFeng, Yong-
dc.contributor.authorC. Justin Lee-
dc.contributor.authorChoi, Byung Yoon-
dc.date.accessioned2021-07-08T05:30:04Z-
dc.date.accessioned2021-07-08T05:30:04Z-
dc.date.available2021-07-08T05:30:04Z-
dc.date.available2021-07-08T05:30:04Z-
dc.date.created2021-07-07-
dc.date.issued2021-06-
dc.identifier.issn0027-8424-
dc.identifier.urihttps://pr.ibs.re.kr/handle/8788114/9880-
dc.description.abstract© 2021 National Academy of Sciences. All rights reserved.Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness. Herein, we present a deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene, TMEM43, mainly expressed in GLSs. We identify p.(Arg372Ter) of TMEM43 by linkage analysis and exome sequencing in two large Asian families segregating ANSD, which is characterized by inability to discriminate speech despite preserved sensitivity to sound. The knock-in mouse with the p.(Arg372Ter) variant recapitulates a progressive hearing loss with histological abnormalities in GLSs. Mechanistically, TMEM43 interacts with the Connexin26 and Connexin30 gap junction channels, disrupting the passive conductance current in GLSs in a dominant-negative fashion when the p.(Arg372Ter) variant is introduced. Based on these mechanistic insights, cochlear implant was performed on three subjects, and speech discrimination was successfully restored. Our study highlights a pathological role of cochlear GLSs by identifying a deafness gene and its causal relationship with ANSD.-
dc.description.uri1-
dc.language영어-
dc.publisherNational Academy of Sciences-
dc.titleA nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder-
dc.typeArticle-
dc.type.rimsART-
dc.identifier.wosid000659433500008-
dc.identifier.scopusid2-s2.0-85107205166-
dc.identifier.rimsid75971-
dc.contributor.affiliatedAuthorCCS-
dc.contributor.affiliatedAuthorTai Young Kim-
dc.contributor.affiliatedAuthorC. Justin Lee-
dc.identifier.doi10.1073/pnas.2019681118-
dc.identifier.bibliographicCitationProceedings of the National Academy of Sciences of the United States of America, v.118, no.22-
dc.citation.titleProceedings of the National Academy of Sciences of the United States of America-
dc.citation.volume118-
dc.citation.number22-
dc.description.journalClass1-
dc.description.isOpenAccessN-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
dc.relation.journalWebOfScienceCategoryMultidisciplinary Sciences-
dc.subject.keywordPlusAUDITORY NEUROPATHY-
dc.subject.keywordPlusGAP-JUNCTIONS-
dc.subject.keywordPlusHEARING IMPAIRMENT-
dc.subject.keywordPlusSUPPORTING CELLS-
dc.subject.keywordPlusHAIR-CELLS-
dc.subject.keywordPlusMUTATIONS-
dc.subject.keywordPlusDEAFNESS-
dc.subject.keywordPlusDIFFERENTIATION-
dc.subject.keywordPlusGUIDELINES-
dc.subject.keywordPlusMECHANISM-
dc.subject.keywordAuthorAuditory neuropathy spectrum disorder-
dc.subject.keywordAuthorCochlea-
dc.subject.keywordAuthorConnexins-
dc.subject.keywordAuthorGlia-like supporting cells-
Appears in Collections:
Center for Cognition and Sociality(인지 및 사회성 연구단) > 1. Journal Papers (저널논문)
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