Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia.
Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany.
Nat Commun. 2016 Jun 20;7:11884. doi: 10.1038/ncomms11884.
The recognition and translation of mammalian mitochondrial mRNAs are poorly understood. To gain further insights into these processes in vivo, we characterized mice with a missense mutation that causes loss of the translational activator of cytochrome oxidase subunit I (TACO1). We report that TACO1 is not required for embryonic survival, although the mutant mice have substantially reduced COXI protein, causing an isolated complex IV deficiency. We show that TACO1 specifically binds the mt-Co1 mRNA and is required for translation of COXI through its association with the mitochondrial ribosome. We determined the atomic structure of TACO1, revealing three domains in the shape of a hook with a tunnel between domains 1 and 3. Mutations in the positively charged domain 1 reduce RNA binding by TACO1. The Taco1 mutant mice develop a late-onset visual impairment, motor dysfunction and cardiac hypertrophy and thus provide a useful model for future treatment trials for mitochondrial disease.
哺乳动物线粒体 mRNA 的识别和翻译还不太清楚。为了更深入地了解这些体内过程,我们对一种导致细胞色素氧化酶亚基 I(COXI)翻译激活因子(TACO1)错义突变的小鼠进行了特征描述。我们报告说,TACO1 并不需要胚胎存活,尽管突变小鼠的 COXI 蛋白大大减少,导致复合物 IV 缺陷。我们表明,TACO1 特异性地结合 mt-Co1 mRNA,并通过与线粒体核糖体的结合来翻译 COXI。我们确定了 TACO1 的原子结构,揭示了三个呈钩状的结构域,结构域 1 和 3 之间有一个隧道。带正电荷的结构域 1 中的突变会降低 TACO1 的 RNA 结合能力。Taco1 突变小鼠会出现迟发性视力障碍、运动功能障碍和心脏肥大,因此为未来的线粒体疾病治疗试验提供了一个有用的模型。