Jeong-Yu S, Clayton D A
Department of Developmental Biology, Beckman Center for Molecular and Genetic Medicine, Stanford University School of Medicine, CA 94305-5427, USA.
J Inherit Metab Dis. 1996;19(4):443-51. doi: 10.1007/BF01799105.
Molecular changes in human mitochondrial DNA play a significant role in causing certain human diseases. Mitochondrial DNA mutations range from single base pair changes in the 16.5 kilobase pair genome up to large deletions and rearrangements. This report summarizes the current overall understanding of the mode and mechanism of mitochondrial DNA replication and transcription, and how this relates to mitochondrial gene expression, which is essential for cellular energy production and organelle biogenesis. Special attention is given to recent findings that bear on early steps in the process of transcription and, in turn, the consequences for initiating DNA replication.
人类线粒体DNA的分子变化在引发某些人类疾病中起着重要作用。线粒体DNA突变范围从16.5千碱基对基因组中的单碱基对变化到大片段缺失和重排。本报告总结了目前对线粒体DNA复制和转录的模式及机制的整体认识，以及这与线粒体基因表达的关系，线粒体基因表达对细胞能量产生和细胞器生物发生至关重要。特别关注了与转录过程早期步骤相关的最新发现，以及这些发现对启动DNA复制的影响。
