دورية أكاديمية
أعرض في EDS

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.

التفاصيل البيبلوغرافية
العنوان: Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
المؤلفون: Mansur A; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Joseph R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Kim ES; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Jean-Beltran PM; Proteomics Platform, Broad Institute of MIT and Harvard, Cambridge, United States., Udeshi ND; Proteomics Platform, Broad Institute of MIT and Harvard, Cambridge, United States., Pearce C; Proteomics Platform, Broad Institute of MIT and Harvard, Cambridge, United States., Jiang H; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States.; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Boston, United States., Iwase R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, United States., Milev MP; Department of Biology, Concordia University of Edmonton, Montreal, Canada., Almousa HA; Department of Biology, Concordia University of Edmonton, Montreal, Canada., McNamara E; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia., Widrick J; Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, United States., Perez C; Department of Anesthesiology, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Ravenscroft G; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia., Sacher M; Department of Biology, Concordia University of Edmonton, Montreal, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Canada., Cole PA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States., Carr SA; Proteomics Platform, Broad Institute of MIT and Harvard, Cambridge, United States., Gupta VA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, United States.
المصدر: ELife [Elife] 2023 Jul 11; Vol. 12. Date of Electronic Publication: 2023 Jul 11.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Cambridge, UK : eLife Sciences Publications, Ltd., 2012-
مواضيع طبية MeSH: Muscle Proteins*/genetics , Muscle Proteins*/metabolism , Zebrafish*/metabolism, Animals ; Humans ; Proteome/metabolism ; Muscle, Skeletal/metabolism ; Ubiquitination ; Sarcomeres/metabolism ; Ubiquitin/metabolism ; Endoplasmic Reticulum/metabolism ; Muscle Development ; Disease Progression
مستخلص: Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy. However, the mechanistic understanding of specific components of the regulation of protein turnover during development and disease progression in skeletal muscle is unclear. Mutations in KLHL40 , an E3 ubiquitin ligase cullin3 (CUL3) substrate-specific adapter protein, result in severe congenital nemaline myopathy, but the events that initiate the pathology and the mechanism through which it becomes pervasive remain poorly understood. To characterize the KLHL40-regulated ubiquitin-modified proteome during skeletal muscle development and disease onset, we used global, quantitative mass spectrometry-based ubiquitylome and global proteome analyses of klhl40a mutant zebrafish during disease progression. Global proteomics during skeletal muscle development revealed extensive remodeling of functional modules linked with sarcomere formation, energy, biosynthetic metabolic processes, and vesicle trafficking. Combined analysis of klh40 mutant muscle proteome and ubiquitylome identified thin filament proteins, metabolic enzymes, and ER-Golgi vesicle trafficking pathway proteins regulated by ubiquitylation during muscle development. Our studies identified a role for KLHL40 as a regulator of ER-Golgi anterograde trafficking through ubiquitin-mediated protein degradation of secretion-associated Ras-related GTPase1a (Sar1a). In KLHL40-deficient muscle, defects in ER exit site vesicle formation and downstream transport of extracellular cargo proteins result in structural and functional abnormalities. Our work reveals that the muscle proteome is dynamically fine-tuned by ubiquitylation to regulate skeletal muscle development and uncovers new disease mechanisms for therapeutic development in patients.
Competing Interests: AM, RJ, EK, PJ, NU, CP, HJ, RI, MM, HA, EM, JW, CP, GR, MS, PC, SC, VG No competing interests declared
(© 2023, Mansur et al.)
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معلومات مُعتمدة: R37GM62437 United States NH NIH HHS; R01CA74305 United States CA NCI NIH HHS; F32 HL154711 United States HL NHLBI NIH HHS; F32HL154711 United States HL NHLBI NIH HHS; R37 GM062437 United States GM NIGMS NIH HHS; R01 CA074305 United States CA NCI NIH HHS; R56AR077017 United States AR NIAMS NIH HHS; R56 AR077017 United States AR NIAMS NIH HHS
فهرسة مساهمة: Keywords: cell biology; developmental biology; genetic disease; myopathy; skeletal muscle; ubiquitylation; zebrafish
المشرفين على المادة: 0 (Muscle Proteins)
0 (Proteome)
0 (Ubiquitin)
0 (KLHL40 protein, human)
تواريخ الأحداث: Date Created: 20230711 Date Completed: 20230721 Latest Revision: 20230721
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10356137
DOI: 10.7554/eLife.81966
PMID: 37432316
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-084X
DOI:10.7554/eLife.81966