Characterization of WWP1 protein expression in skeletal muscle of muscular dystrophy chickens.

ABSTRACT: A missense mutation in the gene encoding WWP1 was identified as the most promising candidate responsible for chicken muscular dystrophy (MD) by genetic linkage analysis. WWP1 is a HECT-type E3 ubiquitin protein ligase composed of 922 amino acids, which contains 4 tandem WW domains that interact with the proline-rich peptide motifs of target proteins. The missense mutation changes arginine 441 that is located in the centre of the WW domains into glutamine (R441Q), which potentially affects the function of the WWP1 protein. Here, we show that WWP1 is detected as ∼130-kDa protein that localizes to various structures, such as the plasma membrane (sarcolemma), sarcoplasmic reticulum, mitochondria and nucleus, in normal chicken skeletal muscle. However, in MD chickens, the mutant WWP1 protein wa

SUBMITTER: Imamura M 

PROVIDER: S-EPMC4892772 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature