The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy
The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy
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DOI：
10.1016/j.febslet.2008.05.013
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发表时间：
2008-06-25
期刊：
影响因子：
3.5
通讯作者：
Mannen, Hideyuki
中科院分区：
文献类型：
--
作者：
Matsumoto, Hirokazu;Maruse, Hideaki;Mannen, Hideyuki
对伴有肌肉异常 (AM) 的鸡肌营养不良症的研究已有 50 多年的历史，但导致该病的基因仍不清楚。我们之前的研究将 AM 候选区域缩小到包含 7 个基因的鸡染色体 2q 的大约 1 Mbp。在这项研究中，我们进行了序列比较和基因表达分析，以阐明负责的基因。在 AM 候选基因中检测到一个错义突变，但没有观察到表达模式的显着改变。这种突变是在 WWP1 中发现的，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 是导致鸡肌营养不良症的原因。 (C) 2008 年欧洲生化学会联合会。由 Elsevier B.V. 出版。保留所有权利。
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. (C) 2008 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.