학술논문

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
Document Type
article
Source
Journal of Cell Biology. 155(4)
Subject
2.1 Biological and endogenous factors
Aetiology
Actinin
Adaptor Proteins
Signal Transducing
Amino Acids
Animals
Binding Sites
Carrier Proteins
Cells
Cultured
Homeodomain Proteins
LIM Domain Proteins
Mice
Mice
Knockout
Mice
Mutant Strains
Muscle Proteins
Muscle
Skeletal
Myocardium
Myopathies
Structural
Congenital
Rats
congenital myopathy
cypher
LIM
PDZ
Z-line
Biological Sciences
Medical and Health Sciences
Developmental Biology
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.