Harry Perkins Institute of Medical Research and The University of Western Australia, School of Molecular Sciences, Nedlands 6009, Perth, Western Australia, Australia.
Harry Perkins Institute of Medical Research and The University of Western Australia, School of Molecular Sciences, Nedlands 6009, Perth, Western Australia, Australia.
Semin Cell Dev Biol. 2018 Apr;76:132-141. doi: 10.1016/j.semcdb.2017.08.037. Epub 2017 Aug 24.
Repeat proteins regulate the expression of the mammalian mitochondrial genome at the level of transcription, processing, maturation, and translation. Defects in the regulation of mitochondrial gene expression due to mutations in genes encoding repeat proteins can lead to mitochondrial dysfunction and disease, however the molecular mechanisms that regulate mitochondrial gene expression and how defects in these processes cause disease still remains poorly understood. Recently solved crystal structures, characterisation of the new genetic models, and use of RNA sequencing (RNA-Seq) technologies have greatly expanded our current understanding of mitochondrial repeat proteins and biology.
重复蛋白在转录、加工、成熟和翻译水平上调节哺乳动物线粒体基因组的表达。由于编码重复蛋白的基因突变导致线粒体基因表达调控缺陷，可导致线粒体功能障碍和疾病，但调节线粒体基因表达的分子机制以及这些过程中的缺陷如何导致疾病仍知之甚少。最近解决的晶体结构、新遗传模型的特征描述以及 RNA 测序（RNA-Seq）技术的应用极大地扩展了我们对线粒体重复蛋白和生物学的现有认识。
