Helmholtz Gemeinschaft


Characterization of mouse myotilin and its promoter

Item Type:Article
Title:Characterization of mouse myotilin and its promoter
Creators Name:Mologni, L. and Moza, M. and 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
Publisher:Academic Press
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

Repository Staff Only: item control page

Open Access
MDC Library