The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy.
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 1Mbp 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.
Matsumoto
Hirokazu
H
Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan.
Maruse
Hideaki
H
Inaba
Yumi
Y
Yoshizawa
Kanako
K
Sasazaki
Shinji
S
Fujiwara
Akira
A
Nishibori
Masahide
M
Nakamura
Akinori
A
Takeda
Shin'ichi
S
Ichihara
Nobutsune
N
Kikuchi
Tateki
T
Mukai
Fumio
F
Mannen
Hideyuki
H
D000595:Amino Acid Sequence; D000818:Animals; D002645:Chickens / Q000235:genetics*; D015870:Gene Expression; D008969:Molecular Sequence Data; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D020125:Mutation, Missense; D011201:Poultry Diseases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases