The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein
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DOI：
10.1093/hmg/10.1.9
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发表时间：
2001-01-01
影响因子：
3.5
通讯作者：
Brown, SDM
中科院分区：
文献类型：
--
作者：
Blanco, G;Coulton, GR;Brown, SDM
ky小鼠突变体表现出原发性退行性肌病之前慢性胸腰椎脊柱后凸。ky突变体的组织病理学表明，Ky蛋白活性对正常肌肉生长和功能以及神经肌肉接头的成熟和稳定至关重要。肌肉肥大，以应对日益增加的需求是缺乏ky突变，而适应性纤维类型的转变发生。ky基因座以前被定位于小鼠9号染色体的一个小区域，我们现在已经确定了脊柱后凸小鼠的基因和突变。ky转录本编码一种新的蛋白质，仅在骨骼肌和心脏中检测到。ky基因的鉴定将允许详细分析原发性肌病对小鼠和人类特发性脊柱侧凸的影响。
The ky mouse mutant exhibits a primary degenerative myopathy preceding chronic thoraco-lumbar kyphoscoliosis. The histopathology of the ky mutant suggests that Ky protein activity is crucial for normal muscle growth and function as well as the maturation and stabilization of the neuromuscular junction. Muscle hypertrophy in response to increasing demand is deficient in the ky mutant, whereas adaptive fibre type shifts take place. The ky locus has previously been localized to a small region of mouse chromosome 9 and we have now identified the gene and the mutation underlying the kyphoscoliotic mouse. The ky transcript encodes a novel protein that is detected only in skeletal muscle and heart. The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man.