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The ubiquitin ligase gene ( WWP1 ) is responsible for the chicken muscular dystrophy
Author(s) -
Matsumoto Hirokazu,
Maruse Hideaki,
Inaba Yumi,
Yoshizawa Kanako,
Sasazaki Shinji,
Fujiwara Akira,
Nishibori Masahide,
Nakamura Akinori,
Takeda Shin'ichi,
Ichihara Nobutsune,
Kikuchi Tateki,
Mukai Fumio,
Mannen Hideyuki
Publication year - 2008
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2008.05.013
Subject(s) - muscular dystrophy , gene , missense mutation , genetics , biology , mutation , candidate gene , microbiology and biotechnology , ubiquitin ligase , dysferlin , gene mutation , congenital muscular dystrophy , ubiquitin
Chicken muscular dystrophy with abnormal muscle ( AM ) has been studied for more than 50 years, but the gene responsible for it remains unclear. Our previous studies narrowed down the AM candidate region to approximately 1 Mbp of chicken chromosome 2q containing seven genes. In this study, we performed sequence comparison and gene expression analysis to elucidate the responsible gene. One missense mutation was detected in AM candidate genes, while no remarkable alteration of expression patterns was observed. The mutation was identified in WWP1 , detected only in dystrophic chickens within several tetrapods. These results suggested WWP1 is responsible for chicken muscular dystrophy.