The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

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

doi:10.1016/j.febslet.2008.05.013

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Volume 582, Issue 15 , Pages 2212-2218, 25 June 2008

The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

Edited by Takashi Gojobori

Hirokazu Matsumoto
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
Hideaki Maruse
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
Yumi Inaba
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
Kanako Yoshizawa
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
Shinji Sasazaki
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
Akira Fujiwara
- Laboratory Animal Research Station, Nippon Institute for Biological Science, Kobuchisawa 408-0041, Japan
Masahide Nishibori
- Graduate School of Biosphere Science, Hiroshima University, Higashi-Hiroshima, Hiroshima 739-8528, Japan
Akinori Nakamura
- Department of Molecular Therapy, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 182-8502, Japan
Shin’ichi Takeda
- Department of Molecular Therapy, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 182-8502, Japan
Nobutsune Ichihara
- Animal Models for Human Disease, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 182-8502, Japan
- Department of Anatomy I, School of veterinary medicine, Azabu University, Fuchinobe, Sagamihara, Kanagawa 229-8501, Japan
Tateki Kikuchi
- Animal Models for Human Disease, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 182-8502, Japan
Fumio Mukai
- Laboratory of Animal Breeding and Genetics, Faculty of Agriculture, Kobe University, Kobe 657-8501, Japan
Hideyuki Mannen
- Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan
- Corresponding author. Fax: +81 78 803 5803.

Received 4 March 2008; received in revised form 7 May 2008; accepted 9 May 2008. published online 22 May 2008.

Abstract

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.