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Identification of a Cardiac Disease Modifier Gene Using Forward Genetics in the Mouse

机译:使用鼠标中的正向遗传基因识别心脏疾病修饰基因。

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Heart failure, the clinical syndrome that arises from inadequate cardiac pump function, is known to be influenced by genetic factors. However, thus far unbiased genetic approaches in humans have met with limited success in identifying heart failure modifier genes [1], likely because of substantial genetic heterogeneity between patients and difficulty controlling environmental factors. These limitations can be overcome in model systems such as the mouse, where a wealth of inbred lines, polymorphic markers, and well-characterized heart failure models are available. Taking advantage of these resources, Wheeler and colleagues provide in this issue of PLoS Genetics compelling evidence that a little-studied, cardiac-specific protein kinase, cardiac Troponin I-interacting kinase (Tnni3k), is a strong modifier of the development of heart failure [2].
机译:心力衰竭是由心脏泵功能不足引起的临床综合征,已知受遗传因素影响。然而,迄今为止,在人类中无偏见的遗传方法在鉴定心力衰竭修饰基因方面仅获得了有限的成功[1],这可能是由于患者之间的遗传异质性很强并且难以控制环境因素。这些限制可以在模型系统(例如鼠标)中克服,该系统具有大量的自交系,多态性标记和特征明确的心力衰竭模型。利用这些资源,Wheeler及其同事在本期《 PLoS遗传学》中提供了令人信服的证据,即研究很少的心脏特异性蛋白激酶,心脏肌钙蛋白I相互作用激酶(Tnni3k)是心力衰竭发展的有力调节剂[2]。

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