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| Item Type: | Article |
|---|---|
| Title: | Characterization of mouse myotilin and its promoter |
| Creators Name: | Mologni, L., Moza, M., Lalowski, M.M. and Carpen, O. |
| Abstract: | Myotilin is a sarcomeric protein mutated in two forms of muscle disease, limb-girdle muscular dystrophy type 1A and myofibrillar myopathy. Myotilin is expressed late during human myofibrillogenesis and localizes to Z-discs in mature sarcomere. It interacts with α-actinin, actin, and filamin C, and has strong F-actin-bundling activity. These features suggest an important role for myotilin in sarcomere organization. In our effort towards the construction of a genetic model for myotilin-related muscle disorders, we have cloned mouse myotilin, including its promoter region, and studied the expression in various tissues. Mouse myotilin is 90% identical with the human orthologue. Northern blot analysis revealed strong mRNA transcripts in skeletal and cardiac muscle, and weak expression in liver and lung tissue. Western blot and RT-PCR analysis showed the presence of one major product in mouse tissues. Analysis of the 5′-flanking region revealed a number of putative regulatory elements that drive expression in differentiating myoblasts. Finally, endogenous myotilin is induced at later stages of Z-disc assembly in C 2C 12 cells indicating conservation between mouse and human promoter region. |
| Keywords: | LGMD, MFM, Muscular Dystrophy, Myotilin, Z-Disc, Animals, Mice |
| Source: | Biochemical and Biophysical Research Communications |
| ISSN: | 0006-291X |
| Publisher: | Academic Press |
| Volume: | 329 |
| Number: | 3 |
| Page Range: | 1001-1009 |
| Date: | 1 January 2005 |
| Official Publication: | https://doi.org/10.1016/j.bbrc.2005.02.074 |
| PubMed: | View item in PubMed |
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