دورية أكاديمية
أعرض في EDS

A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.

التفاصيل البيبلوغرافية
العنوان: A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.
المؤلفون: Tan WH; Department of Biological Sciences and Centre for Bioimaging Sciences, National University of Singapore, Singapore 117543, Singapore., Rücklin M; Naturalis Biodiversity Center, Postbus 9517, 2300 RA Leiden, the Netherlands., Larionova D; Department of Biology, Research Group Evolutionary Developmental Biology, Ghent University, Ghent, Belgium., Ngoc TB; Department of Biological Sciences and Centre for Bioimaging Sciences, National University of Singapore, Singapore 117543, Singapore., Joan van Heuven B; Naturalis Biodiversity Center, Postbus 9517, 2300 RA Leiden, the Netherlands., Marone F; Swiss Light Source, Paul Scherrer Institut, CH-5232 Villigen, Switzerland., Matsudaira P; Department of Biological Sciences and Centre for Bioimaging Sciences, National University of Singapore, Singapore 117543, Singapore., Winkler C; Department of Biological Sciences and Centre for Bioimaging Sciences, National University of Singapore, Singapore 117543, Singapore.
المصدر: IScience [iScience] 2024 Mar 04; Vol. 27 (4), pp. 109405. Date of Electronic Publication: 2024 Mar 04 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Cambridge, MA] : Cell Press, [2018]-
مستخلص: Heterozygous mutations in COL10A1 lead to metaphyseal chondrodysplasia type Schmid (MCDS), a skeletal disorder characterized by epiphyseal abnormalities. Prior analysis revealed impaired trimerization and intracellular retention of mutant collagen type X alpha 1 chains as cause for elevated endoplasmic reticulum (ER) stress. However, how ER stress translates into structural defects remained unclear. We generated a medaka ( Oryzias latipes ) MCDS model harboring a 5 base pair deletion in col10a1 , which led to a frameshift and disruption of 11 amino acids in the conserved trimerization domain. col10a1 Δ633a heterozygotes recapitulated key features of MCDS and revealed early cell polarity defects as cause for dysregulated matrix secretion and deformed skeletal structures. Carbamazepine, an ER stress-reducing drug, rescued this polarity impairment and alleviated skeletal defects in col10a1 Δ633a heterozygotes. Our data imply cell polarity dysregulation as a potential contributor to MCDS and suggest the col10a1 Δ633a medaka mutant as an attractive MCDS animal model for drug screening.
Competing Interests: The authors declare no competing interests.
(© 2024 The Author(s).)
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فهرسة مساهمة: Keywords: Biological sciences; Cell biology; Molecular biology
تواريخ الأحداث: Date Created: 20240321 Latest Revision: 20240322
رمز التحديث: 20240322
مُعرف محوري في PubMed: PMC10952040
DOI: 10.1016/j.isci.2024.109405
PMID: 38510140
قاعدة البيانات: MEDLINE
الوصف
تدمد:2589-0042
DOI:10.1016/j.isci.2024.109405