Indications for a Novel Muscular Dystrophy Pathway
10.1083/jcb.151.2.235
Crossref journal-article
Rockefeller University Press
The Journal of Cell Biology (291)
Abstract

γ-Filamin, also called ABP-L, is a filamin isoform that is specifically expressed in striated muscles, where it is predominantly localized in myofibrillar Z-discs. A minor fraction of the protein shows subsarcolemmal localization. Although γ-filamin has the same overall structure as the two other known isoforms, it is the only isoform that carries a unique insertion in its immunoglobulin (Ig)-like domain 20. Sequencing of the genomic region encoding this part of the molecule shows that this insert is encoded by an extra exon. Transient transfections of the insert-bearing domain in skeletal muscle cells and cardiomyocytes show that this single domain is sufficient for targeting to developing and mature Z-discs. The yeast two-hybrid method was used to identify possible binding partners for the insert-bearing Ig-like domain 20 of γ-filamin. The two Ig-like domains of the recently described α-actinin–binding Z-disc protein myotilin were found to interact directly with this filamin domain, indicating that the amino-terminal end of γ-filamin may be indirectly anchored to α-actinin in the Z-disc via myotilin. Since defects in the myotilin gene were recently reported to cause a form of autosomal dominant limb-girdle muscular dystrophy, our findings provide a further contribution to the molecular understanding of this disease.

Bibliography

van der Ven, P. F. M., Wiesner, S., Salmikangas, P., Auerbach, D., Himmel, M., Kempa, S., Hayeß, K., Pacholsky, D., Taivainen, A., Schröder, R., Carpén, O., & Fürst, D. O. (2000). Indications for a Novel Muscular Dystrophy Pathway. The Journal of Cell Biology, 151(2), 235–248.

Authors 12
  1. Peter F.M. van der Ven (first)
  2. Sebastian Wiesner (additional)
  3. Paula Salmikangas (additional)
  4. Daniel Auerbach (additional)
  5. Mirko Himmel (additional)
  6. Stefan Kempa (additional)
  7. Katrin Hayeß (additional)
  8. Dirk Pacholsky (additional)
  9. Anu Taivainen (additional)
  10. Rolf Schröder (additional)
  11. Olli Carpén (additional)
  12. Dieter O. Fürst (additional)
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Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 12:45 p.m.)
Deposited 1 year, 7 months ago (Jan. 4, 2024, 12:16 p.m.)
Indexed 1 month, 4 weeks ago (July 5, 2025, 7:04 a.m.)
Issued 24 years, 10 months ago (Oct. 16, 2000)
Published 24 years, 10 months ago (Oct. 16, 2000)
Published Online 24 years, 10 months ago (Oct. 16, 2000)
Published Print 24 years, 10 months ago (Oct. 16, 2000)
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@article{van_der_Ven_2000, title={Indications for a Novel Muscular Dystrophy Pathway}, volume={151}, ISSN={1540-8140}, url={http://dx.doi.org/10.1083/jcb.151.2.235}, DOI={10.1083/jcb.151.2.235}, number={2}, journal={The Journal of Cell Biology}, publisher={Rockefeller University Press}, author={van der Ven, Peter F.M. and Wiesner, Sebastian and Salmikangas, Paula and Auerbach, Daniel and Himmel, Mirko and Kempa, Stefan and Hayeß, Katrin and Pacholsky, Dirk and Taivainen, Anu and Schröder, Rolf and Carpén, Olli and Fürst, Dieter O.}, year={2000}, month=oct, pages={235–248} }