Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2021-08-31 , DOI: 10.1146/annurev-genom-121420-081805 Swathi P Jeedigunta 1 , Anastasia V Minenkova 1 , Jonathan M Palozzi 1 , Thomas R Hurd 1
Mitochondria are unusual organelles in that they contain their own genomes, which are kept apart from the rest of the DNA in the cell. While mitochondrial DNA (mtDNA) is essential for respiration and most multicellular life, maintaining a genome outside the nucleus brings with it a number of challenges. Chief among these is preserving mtDNA genomic integrity from one generation to the next. In this review, we discuss what is known about negative (purifying) selection mechanisms that prevent deleterious mutations from accumulating in mtDNA in the germline. Throughout, we focus on the female germline, as it is the tissue through which mtDNA is inherited in most organisms and, therefore, the tissue that most profoundly shapes the genome. We discuss recent progress in uncovering the mechanisms of germline mtDNA selection, from humans to invertebrates.
中文翻译:
避免灭绝:了解生殖系中线粒体 DNA 纯化选择机制的最新进展
线粒体是不寻常的细胞器,因为它们包含自己的基因组,与细胞中的其他 DNA 分开。虽然线粒体 DNA (mtDNA) 对呼吸和大多数多细胞生命至关重要,但在细胞核外维持基因组也带来了许多挑战。其中最主要的是保持 mtDNA 基因组的完整性,代代相传。在这篇综述中,我们讨论了关于防止有害突变在生殖系 mtDNA 中积累的负(纯化)选择机制的已知内容。在整个过程中,我们专注于女性生殖系,因为它是大多数生物体中 mtDNA 遗传的组织,因此也是最深刻地塑造基因组的组织。我们讨论了从人类到无脊椎动物的生殖系 mtDNA 选择机制的最新进展。