Amino-terminally truncated desmin rescues fusion of des(-/-) myoblasts but negatively affects cardiomyogenesis and smooth muscle development.
Desmin fulfils important functions in maintenance of muscle cells and mutations in the desmin gene have been linked to a variety of myopathies. To ascertain the role of desmin's amino-terminal domain in muscle cells we generated embryonic stem cells constitutively expressing desmin(Delta1-48) in a null background and investigated muscle cell development in vitro. Desmin(Delta1-48) lacking the first 48 amino acid residues promotes fusion of myoblasts, rescues myogenesis and down-regulates vimentin expression in embryoid bodies, but hampers cardiomyogenesis and blocks smooth muscle development. These results demonstrate that desmin's amino-terminus has different roles in skeletal, cardiac, and smooth muscle cell development and function.
Institute of Medical Biochemistry, Vienna Bio Center, University of Vienna, Dr. Bohrgasse 9, A-1030, Vienna, Austria.
Alexandra
A
Höllrigl
Sonja
S
Puz
Haifa
H
Al-Dubai
Jai Up
JU
Kim
Yassemi
Y
Capetanaki
Georg
G
Weitzer
D002454:Cell Differentiation / Q000502:physiology; D002459:Cell Fusion; D002460:Cell Line; D003893:Desmin / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D015536:Down-Regulation; D006321:Heart / Q000502:physiology; D006801:Humans; D024510:Muscle Development / Q000502:physiology*; D018482:Muscle, Skeletal / Q000254:growth & development* / Q000502:physiology; D009130:Muscle, Smooth / Q000254:growth & development* / Q000502:physiology; D009154:Mutation; D009206:Myocardium; D017384:Sequence Deletion / Q000235:genetics; D013234:Stem Cells / Q000378:metabolism; D014746:Vimentin / Q000502:physiology
D003893:Desmin; D014746:Vimentin