학술논문

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy.
Document Type
article
Source
The Journal of cell biology. 155(4)
Subject
Muscle
Skeletal
Myocardium
Cells
Cultured
Animals
Mice
Knockout
Mice
Mice
Mutant Strains
Rats
Myopathies
Structural
Congenital
Amino Acids
Adaptor Proteins
Signal Transducing
Carrier Proteins
Muscle Proteins
Actinin
Homeodomain Proteins
Binding Sites
LIM Domain Proteins
congenital myopathy
cypher
LIM
PDZ
Z-line
2.1 Biological and endogenous factors
Developmental Biology
Biological Sciences
Medical and Health Sciences
Language
Abstract
Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH(2) terminus and one or three LIM domains at their COOH terminus. Cypher knockout mice display a severe form of congenital myopathy and die postnatally from functional failure in multiple striated muscles. Examination of striated muscle from the mutants revealed that Cypher is not required for sarcomerogenesis or Z-line assembly, but rather is required for maintenance of the Z-line during muscle function. In vitro studies demonstrated that individual domains within Cypher localize independently to the Z-line via interactions with alpha-actinin or other Z-line components. These results suggest that Cypher functions as a linker-strut to maintain cytoskeletal structure during contraction.