دورية أكاديمية
أعرض في EDS

SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.

التفاصيل البيبلوغرافية
العنوان: SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.
المؤلفون: Szeto IYY; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Chu DKH; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Chen P; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Chu KC; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Au TYK; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Leung KKH; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Huang YH; Genome Regulation Laboratory, CAS Key Laboratory of Regenerative Biology, Joint School of Life Sciences, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.; Guangzhou Medical University, Guangzhou 511436, China., Wynn SL; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Mak ACY; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Chan YS; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Chan WY; School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong, China., Jauch R; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.; Genome Regulation Laboratory, CAS Key Laboratory of Regenerative Biology, Joint School of Life Sciences, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.; Guangzhou Medical University, Guangzhou 511436, China., Fritzsch B; Department of Biology, College of Arts & Sciences, University of Iowa, Iowa City, IA 52242.; Department of Otolaryngology, College of Arts & Sciences, University of Iowa, Iowa City, IA 52242., Sham MH; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China., Lovell-Badge R; Francis Crick Institute, London NW1 1AT, United Kingdom., Cheah KSE; School of Biomedical Sciences, The University of Hong Kong, Li Ka Shing Faculty of Medicine, Hong Kong, China.
المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Nov 16; Vol. 119 (46), pp. e2122121119. Date of Electronic Publication: 2022 Nov 07.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Washington, DC : National Academy of Sciences
مواضيع طبية MeSH: Deafness*/metabolism , Ear, Inner*/metabolism , SOX9 Transcription Factor*/genetics , SOX9 Transcription Factor*/metabolism , SOXE Transcription Factors*/genetics , SOXE Transcription Factors*/metabolism, Animals ; Mice ; Hearing/genetics ; Homeostasis ; Mice, Knockout
مستخلص: The in vivo mechanisms underlying dominant syndromes caused by mutations in SRY-Box Transcription Factor 9 ( SOX9 ) and SOX10 ( SOXE ) transcription factors, when they either are expressed alone or are coexpressed, are ill-defined. We created a mouse model for the campomelic dysplasia SOX9 Y440X mutation, which truncates the transactivation domain but leaves DNA binding and dimerization intact. Here, we find that SOX9 Y440X causes deafness via distinct mechanisms in the endolymphatic sac (ES)/duct and cochlea. By contrast, conditional heterozygous Sox9 -null mice are normal. During the ES development of Sox9 Y440X/+ heterozygotes, Sox10 and genes important for ionic homeostasis are down-regulated, and there is developmental persistence of progenitors, resulting in fewer mature cells. Sox10 heterozygous null mutants also display persistence of ES/duct progenitors. By contrast, SOX10 retains its expression in the early Sox9 Y440X/+ mutant cochlea. Later, in the postnatal stria vascularis, dominant interference by SOX9 Y440X is implicated in impairing the normal cooperation of SOX9 and SOX10 in repressing the expression of the water channel Aquaporin 3, thereby contributing to endolymphatic hydrops. Our study shows that for a functioning endolymphatic system in the inner ear, SOX9 regulates Sox10 , and depending on the cell type and target gene, it works either independently of or cooperatively with SOX10. SOX9 Y440X can interfere with the activity of both SOXE factors, exerting effects that can be classified as haploinsufficient/hypomorphic or dominant negative depending on the cell/gene context. This model of disruption of transcription factor partnerships may be applicable to congenital deafness, which affects ∼0.3% of newborns, and other syndromic disorders.
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معلومات مُعتمدة: MC_U117562207 United Kingdom MRC_ Medical Research Council; R01 AG060504 United States AG NIA NIH HHS
فهرسة مساهمة: Keywords: SOXE transcription factors; developmental syndrome; dominant negative; haploinsufficiency; inner ear endolymphatic system
المشرفين على المادة: 0 (Sox10 protein, mouse)
0 (SOX9 Transcription Factor)
0 (SOXE Transcription Factors)
0 (Sox9 protein, mouse)
تواريخ الأحداث: Date Created: 20221107 Date Completed: 20221114 Latest Revision: 20240923
رمز التحديث: 20240923
مُعرف محوري في PubMed: PMC9674217
DOI: 10.1073/pnas.2122121119
PMID: 36343245
قاعدة البيانات: MEDLINE
الوصف
تدمد:1091-6490
DOI:10.1073/pnas.2122121119