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. |
References: | Hum Mol Genet. 2011 May 15;20(10):2015-25. (PMID: 21357678) J Appl Physiol (1985). 2002 Aug;93(2):407-17. (PMID: 12133845) Trends Cardiovasc Med. 2007 Nov;17(8):258-62. (PMID: 18021935) J Struct Biol. 2010 May;170(2):334-43. (PMID: 19944167) Mol Biol Cell. 2008 May;19(5):1837-47. (PMID: 18272787) Nat Rev Mol Cell Biol. 2013 Feb;14(2):113-9. (PMID: 23299957) Physiol Rev. 2009 Oct;89(4):1217-67. (PMID: 19789381) J Biol Chem. 1997 Oct 24;272(43):27484-91. (PMID: 9341203) J Cell Biol. 1992 Mar;116(6):1381-93. (PMID: 1541635) J Biol Chem. 2008 Mar 7;283(10):6222-31. (PMID: 18180288) Am J Physiol Cell Physiol. 2009 May;296(5):C1123-32. (PMID: 19295172) Eur J Cell Biol. 2008 Sep;87(8-9):517-25. (PMID: 18342394) J Cell Sci. 2001 Apr;114(Pt 7):1253-63. (PMID: 11256992) Cell. 2002 Dec 27;111(7):943-55. (PMID: 12507422) Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11211-6. (PMID: 22736793) J Muscle Res Cell Motil. 2009;30(5-6):171-85. (PMID: 19830582) Mol Cell Proteomics. 2005 Aug;4(8):1155-66. (PMID: 15929943) J Biol Chem. 2006 Sep 15;281(37):27539-56. (PMID: 16766517) J Mol Biol. 1998 Sep 11;282(1):111-23. (PMID: 9733644) J Cell Biol. 2010 May 31;189(5):859-70. (PMID: 20498015) Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):7956-60. (PMID: 7644520) J Cell Biol. 2001 Apr 16;153(2):413-27. (PMID: 11309420) Biophys J. 2009 Mar 4;96(5):1856-65. (PMID: 19254544) J Mol Biol. 1998 Feb 13;276(1):189-202. (PMID: 9514727) Cell. 1999 Apr 16;97(2):221-31. (PMID: 10219243) Nucleic Acids Res. 2007 Jul;35(Web Server issue):W451-4. (PMID: 17485474) J Cell Sci. 2010 Feb 1;123(Pt 3):384-91. (PMID: 20053633) FASEB J. 2009 Dec;23(12):4117-25. (PMID: 19679637) FEBS Lett. 2004 May 21;566(1-3):30-4. (PMID: 15147863) Semin Pediatr Neurol. 2011 Dec;18(4):230-8. (PMID: 22172418) J Cell Biol. 1988 Dec;107(6 Pt 1):2199-212. (PMID: 3058720) FASEB J. 2008 Aug;22(8):2912-9. (PMID: 18434434) J Cell Biol. 2006 Jun 19;173(6):905-16. (PMID: 16769824) J Proteome Res. 2012 May 4;11(5):2666-83. (PMID: 22452640) Behav Brain Res. 2001 Nov 1;125(1-2):279-84. (PMID: 11682119) J Struct Biol. 2002 Jan-Feb;137(1-2):119-27. (PMID: 12064939) Dev Med Child Neurol. 2007 Dec;49(12):907-14. (PMID: 18039237) J Med Genet. 1997 Sep;34(9):705-13. (PMID: 9321754) FASEB J. 2011 Jun;25(6):1903-13. (PMID: 21350120) FEBS Lett. 2002 Dec 18;532(3):273-8. (PMID: 12482578) J Mol Biol. 2006 Sep 29;362(4):664-81. (PMID: 16949617) J Biol Chem. 2004 May 7;279(19):20401-10. (PMID: 15004028) Nucleic Acids Res. 2011 Jan;39(Database issue):D561-8. (PMID: 21045058) Neuromuscul Disord. 2002 Oct;12(7-8):674-9. (PMID: 12207937) Hum Mol Genet. 2009 Jul 1;18(13):2359-69. (PMID: 19346529) BMC Res Notes. 2012 Sep 20;5:513. (PMID: 22994964) Semin Cell Dev Biol. 2008 Dec;19(6):511-9. (PMID: 18793739) Am J Physiol Cell Physiol. 2008 May;294(5):C1175-82. (PMID: 18367591) EMBO J. 2006 Aug 23;25(16):3843-55. (PMID: 16902413) Microb Cell Fact. 2005 Dec 13;4:34. (PMID: 16351710) J Mol Med (Berl). 2006 Jun;84(6):446-68. (PMID: 16416311) Am J Physiol Cell Physiol. 2007 Jul;293(1):C218-27. (PMID: 17392382) Hum Mutat. 2006 Sep;27(9):946-56. (PMID: 16917880) Bioinformatics. 2008 Jul 1;24(13):1547-8. (PMID: 18467348) Muscle Nerve. 2002 May;25(5):747-752. (PMID: 11994971) Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. (PMID: 10051637) J Mol Biol. 2002 Feb 15;316(2):305-15. (PMID: 11851340) PLoS One. 2010 Apr 26;5(4):e10347. (PMID: 20436683) Science. 2010 Dec 10;330(6010):1536-40. (PMID: 21148390) FEBS Lett. 1992 Jul 27;307(1):55-61. (PMID: 1639195) J Muscle Res Cell Motil. 2012 May;33(1):61-74. (PMID: 22415774) Nucleic Acids Res. 2009 Jan;37(Database issue):D412-6. (PMID: 18940858) |
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 |