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
Graduate School of Science and Technology, Kobe University, Kobe 657-8501, Japan.
FEBS Lett. 2008 Jun 25;582(15):2212-8. doi: 10.1016/j.febslet.2008.05.013. Epub 2008 May 22.
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.
伴有异常肌肉的鸡肌肉萎缩症（AM）已被研究了50多年，但导致该病的基因仍不清楚。我们之前的研究将AM候选区域缩小到鸡2号染色体2q上约1Mbp的范围，该区域包含7个基因。在本研究中，我们进行了序列比较和基因表达分析以阐明致病基因。在AM候选基因中检测到一个错义突变，而未观察到表达模式有明显改变。该突变在WWP1中被鉴定出来，仅在几种四足动物的营养不良鸡中检测到。这些结果表明WWP1是鸡肌肉萎缩症的致病基因。
