Blanco G, Coulton G R, Biggin A, Grainge C, Moss J, Barrett M, Berquin A, Maréchal G, Skynner M, van Mier P, Nikitopoulou A, Kraus M, Ponting C P, Mason R M, Brown S D
MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxon OX11 ORD, UK.
Hum Mol Genet. 2001 Jan 1;10(1):9-16. doi: 10.1093/hmg/10.1.9.
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.
ky小鼠突变体在慢性胸腰椎脊柱后凸侧弯之前表现出原发性退行性肌病。ky突变体的组织病理学表明，Ky蛋白活性对于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。ky突变体对增加需求的肌肉肥大反应不足，而适应性纤维类型转变发生。ky基因座先前已定位到小鼠9号染色体的一个小区域，我们现在已经鉴定出导致脊柱后凸侧弯小鼠的基因和突变。ky转录本编码一种仅在骨骼肌和心脏中检测到的新型蛋白质。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。
