Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
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- 資料種別
- 記事
- 著者標目
- 出版年月日等
- 2020-03-12
- 出版年（W3CDTF）
- 2020-03-12
- 寄与者
- Mengnan LiShin-Ya NishioMeghan RiddellChie NaruseSabrina SapskiTatsuya KatsunoTakao HikitaFiona M SmithFatemeh MizapourshafiyiMin Goo LeeMasahide AsanoLeanne T CooperThomas BoettgerMarcus KruegerAstrid WietelmannJohannes GraumannBryan W DayAndrew W BoydStefan OffermannsShin-Ichi UsamiShin-Ichiro KitajiriMasanori Nakayama成瀬, 智恵西尾, 信哉勝野, 達也北尻, 真一郎匹田, 貴夫Lee, Min Goo中山, 雅敬宇佐美, 真一30372486浅野, 雅秀50251450
- タイトル（掲載誌）
- Nature Communications
- 巻号年月日等（掲載誌）
- 11
- 掲載巻
- 11
- 掲載ページ
- 1343-
- 掲載年月日（W3CDTF）
- 2020-03-12
- ISSN（掲載誌）
- 20411723
- 出版事項（掲載誌）
- Springer Nature
- 本文の言語コード
- en
- 対象利用者
- 一般
- 標準番号（その他）
- PMID : 32165640
- DOI
- 10.1038/s41467-020-15198-910.1530/ey.17.3.9
- オンライン閲覧公開範囲
- インターネット公開
- 著作権情報
- © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- 関連情報（URI）
- 参照
- Genetic architecture and phenotypic landscape of SLC26A4-related hearing lossResearch hotspots and trends of the <i>SLC26A4</i> gene-related hearing loss from the perspective of knowledge graph
- 参照
- <italic>POU4F3</italic> mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis successfully identified 12 novel mutations in 15 families with autosomal dominant hearing lossAccurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQPendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)Mutation analysis of the <i>SLC26A4</i> , <i>FOXI1</i> and <i>KCNJ10</i> genes in individuals with congenital hearing lossPfam: the protein families databaseStructures of the EphA2 Receptor at the Membrane: Role of Lipid InteractionsA common <i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueductStickler syndromeSalicylate restores transport function and anion exchanger activity of missense pendrin mutationsTargeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndromeNon-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutationsOcular Features in Alport SyndromeIn-gel digestion for mass spectrometric characterization of proteins and proteomesA case of palmoplantar lichen planus in a patient with congenital sensorineural deafnessThe expression of the receptor-protein tyrosine kinase gene, eck, is highly restricted during early mouse developmentMolecular Distinction and Angiogenic Interaction between Embryonic Arteries and Veins Revealed by ephrin-B2 and Its Receptor Eph-B4Expression pattern of the mouse ortholog of the Pendred’s syndrome gene ( <i>Pds</i> ) suggests a key role for pendrin in the inner earAudiologic Manifestations of Marshall SyndromeEPHA2 Is Associated with Age-Related Cortical Cataract in Mice and HumansGrb4 and GIT1 transduce ephrinB reverse signals modulating spine morphogenesis and synapse formationTarget-decoy search strategy for increased confidence in large-scale protein identifications by mass spectrometryMolecular and Functional Characterization of Human Pendrin and its Allelic VariantsStructurally encoded intraclass differences in EphA clusters drive distinct cell responsesStop and Go Extraction Tips for Matrix-Assisted Laser Desorption/Ionization, Nanoelectrospray, and LC/MS Sample Pretreatment in ProteomicsHeterogeneity in the processing defect of <i>SLC26A4</i> mutantsEphrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner earPendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretionNa(+)/I(-) symporter and Pendred syndrome gene and protein expressions in human extra-thyroidal tissuesEphrin-B2 regulates VEGFR2 function in developmental and tumour angiogenesisTHE EPHRINS AND EPH RECEPTORS IN NEURAL DEVELOPMENTHypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?The role of ephrins and Eph receptors in cancerEphrin-A5/EphA4 signalling controls specific afferent targeting to cochlear hair cellsRoles of ephrinB ligands and EphB receptors in cardiovascular development: demarcation of arterial/venous domains, vascular morphogenesis, and sprouting angiogenesisPendred syndrome--100 years of underascertainment?Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesisFunctional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantificationEphB2 and ephrin-B2 regulate the ionic homeostasis of vestibular endolymphStructural Plasticity of Eph Receptor A4 Facilitates Cross-Class Ephrin SignalingMechanisms of ephrin–Eph signalling in development, physiology and diseaseProtein structure prediction on the Web: a case study using the Phyre serverEph receptors and ephrins in cancer: bidirectional signalling and beyondMutations of the<i>PDS</i>Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred SyndromeLoss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse modelEph/ephrin molecules—a hub for signaling and endocytosisInsights into Eph receptor tyrosine kinase activation from crystal structures of the EphA4 ectodomain and its complex with ephrin-A5<i>Mycobacterium tuberculosis</i>Interferes with the Response to Infection by Inducing the Host EphA2 ReceptorInvolvement of EphA2 in the formation of the tail notochord via interaction with ephrinA1The Role of Pendrin in Renal PhysiologyEph receptors and ephrins: effectors of morphogenesisSerine phosphorylation of ephrinB2 regulates trafficking of synaptic AMPA receptorsEphB Receptors Interact with NMDA Receptors and Regulate Excitatory Synapse FormationThe HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretionAudiologic Features of Norrie DiseaseEphrin/ephrin receptor expression during early stages of mouse inner ear developmentSLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueductStructural Characterization of the EphA4-Ephrin-B2 Complex Reveals New Features Enabling Eph-Ephrin Binding PromiscuityEph receptors and ephrins: Regulators of guidance and assemblyGlycoengineering of EphA4 Fc leads to a unique, long-acting and broad spectrum, Eph receptor therapeutic antagonistMutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
- 連携機関・データベース
- 国立情報学研究所 : CiNii Research
- 提供元機関・データベース
- 学術機関リポジトリデータベースCrossrefCiNii Articles科学研究費助成事業データベースCrossrefCrossref
- NII論文ID
- 120006888459
- 要約等
- Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation. This suggests faulty pendrin regulatory machinery results in hearing loss. Here we identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4. EphA2 forms a protein complex with pendrin controlling pendrin localization, which is disrupted in some pathogenic forms of pendrin. Moreover, point mutations leading to amino acid substitution in the EPHA2 gene are identified from patients bearing mono-allelic mutation of SLC26A4. Ephrin-B2 binds to EphA2 triggering internalization with pendrin inducing EphA2 autophosphorylation weakly. The identified EphA2 mutants attenuate ephrin-B2- but not ephrin-A1-induced EphA2 internalization with pendrin. Our results uncover an unexpected role of the Eph/ephrin system in epithelial function.
- 記録形式（IMT）
- application/pdf
- 一次資料へのリンクURL
- s41467-020-15198-9.pdf （fulltext）
- オンライン閲覧公開範囲
- インターネット公開
- 著作権情報
- © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- 関連情報（DOI）
- 10.1038/s41467-020-15198-9
- 連携機関・データベース
- 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
- 提供元機関・データベース
- 京都大学 : 京都大学学術情報リポジトリ