دورية أكاديمية
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
| العنوان: | The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse. |
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| المؤلفون: | Yamamoto DL; Institute of Biomedical Technologies, National Research Council, 20090 Milan, Italy., Vitiello C, Zhang J, Gokhin DS, Castaldi A, Coulis G, Piaser F, Filomena MC, Eggenhuizen PJ, Kunderfranco P, Camerini S, Takano K, Endo T, Crescenzi M, Luther PK, Lieber RL, Chen J, Bang ML |
| المصدر: | Journal of cell science [J Cell Sci] 2013 Dec 01; Vol. 126 (Pt 23), pp. 5477-89. Date of Electronic Publication: 2013 Sep 17. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Cambridge : Company of Biologists Original Publication: London. |
| مواضيع طبية MeSH: | Muscle Proteins/*genetics , Muscle, Skeletal/*metabolism, Animals ; Cytoskeletal Proteins/genetics ; Cytoskeletal Proteins/metabolism ; Elastic Modulus/physiology ; Excitation Contraction Coupling/physiology ; Female ; Gene Expression ; Humans ; Isometric Contraction/physiology ; Male ; Mice ; Muscle Proteins/chemistry ; Muscle Proteins/deficiency ; Muscle Proteins/metabolism ; Muscle, Skeletal/pathology ; Myopathies, Nemaline/genetics ; Myopathies, Nemaline/metabolism ; Myopathies, Nemaline/pathology ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Protein Binding ; Protein Structure, Tertiary ; Tensile Strength/physiology ; Weight-Bearing/physiology ; Wiskott-Aldrich Syndrome Protein, Neuronal/genetics ; Wiskott-Aldrich Syndrome Protein, Neuronal/metabolism ; Zyxin/genetics ; Zyxin/metabolism |
| مستخلص: | Nemaline myopathy (NM) is a congenital myopathy with an estimated incidence of 150,000 live births. It is caused by mutations in thin filament components, including nebulin, which accounts for about 50% of the cases. The identification of NM cases with nonsense mutations resulting in loss of the extreme C-terminal SH3 domain of nebulin suggests an important role of the nebulin SH3 domain, which is further supported by the recent demonstration of its role in IGF-1-induced sarcomeric actin filament formation through targeting of N-WASP to the Z-line. To provide further insights into the functional significance of the nebulin SH3 domain in the Z-disk and to understand the mechanisms by which truncations of nebulin lead to NM, we took two approaches: (1) an affinity-based proteomic screening to identify novel interaction partners of the nebulin SH3 domain; and (2) generation and characterization of a novel knockin mouse model with a premature stop codon in the nebulin gene, eliminating its C-terminal SH3 domain (NebΔSH3 mouse). Surprisingly, detailed analyses of NebΔSH3 mice revealed no structural or histological skeletal muscle abnormalities and no changes in gene expression or localization of interaction partners of the nebulin SH3 domain, including myopalladin, palladin, zyxin and N-WASP. Also, no significant effect on peak isometric stress production, passive tensile stress or Young's modulus was found. However, NebΔSH3 muscle displayed a slightly altered force-frequency relationship and was significantly more susceptible to eccentric contraction-induced injury, suggesting that the nebulin SH3 domain protects against eccentric contraction-induced injury and possibly plays a role in fine-tuning the excitation-contraction coupling mechanism. |
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| معلومات مُعتمدة: | R01 HL066100 United States HL NHLBI NIH HHS; R24 HD050837 United States HD NICHD NIH HHS; R01AR059334 United States AR NIAMS NIH HHS; GGP12282 Italy TI_ Telethon; TCP07006 Italy TI_ Telethon; RG/11/21/29335 United Kingdom BHF_ British Heart Foundation; R01HL066100 United States HL NHLBI NIH HHS; P30 AR061303 United States AR NIAMS NIH HHS; R01 AR059334 United States AR NIAMS NIH HHS |
| فهرسة مساهمة: | Keywords: Nebulin; Nemaline myopathy; Sarcomere; Skeletal muscle; Z-line |
| المشرفين على المادة: | 0 (Cytoskeletal Proteins) 0 (Muscle Proteins) 0 (Phosphoproteins) 0 (Wasl protein, mouse) 0 (Wiskott-Aldrich Syndrome Protein, Neuronal) 0 (Zyx protein, mouse) 0 (Zyxin) 0 (palladin protein, mouse) 02X6KNJ5EE (nebulin) |
| تواريخ الأحداث: | Date Created: 20130919 Date Completed: 20140731 Latest Revision: 20220129 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC3843138 |
| DOI: | 10.1242/jcs.137026 |
| PMID: | 24046450 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1477-9137 |
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| DOI: | 10.1242/jcs.137026 |