Brázda Václav, Šislerová Lucie, Cucchiarini Anne, Mergny Jean-Louis
Institute of Biophysics of the Czech Academy of Sciences, Královopolská 135, 612 00 Brno, Czech Republic.
Brno University of Technology, Faculty of Chemistry, Purkyňova 118, 612 00 Brno, Czech Republic.
NAR Genom Bioinform. 2024 May 30;6(2):lqae060. doi: 10.1093/nargab/lqae060. eCollection 2024 Jun.
Current methods of processing archaeological samples combined with advances in sequencing methods lead to disclosure of a large part of and Denisovans genetic information. It is hardly surprising that the genome variability between modern humans, Denisovans and is relatively limited. Genomic studies may provide insight on the metabolism of extinct human species or lineages. Detailed analysis of G-quadruplex sequences in and Denisovans mitochondrial DNA showed us interesting features. Relatively similar patterns in mitochondrial DNA are found compared to modern humans, with one notable exception for . An interesting difference between and corresponds to a motif found in the D-loop region of mtDNA, which is responsible for mitochondrial DNA replication. This area is directly responsible for the number of mitochondria and consequently for the efficient energy metabolism of cell harbor a long uninterrupted run of guanines in this region, which may cause problems for replication, in contrast with , for which this run is generally shorter and interrupted. One may propose that the predominant motif provided a selective advantage for modern humans regarding mtDNA replication and function.
当前处理考古样本的方法与测序方法的进步相结合,使得现代人类、丹尼索瓦人以及尼安德特人的大部分基因信息得以揭示。现代人类、丹尼索瓦人和尼安德特人之间的基因组变异性相对有限,这并不奇怪。基因组研究可能会为已灭绝人类物种或谱系的新陈代谢提供见解。对尼安德特人和丹尼索瓦人线粒体DNA中的G-四链体序列进行详细分析,发现了一些有趣的特征。与现代人类相比,在尼安德特人和丹尼索瓦人的线粒体DNA中发现了相对相似的模式,但尼安德特人有一个显著例外。尼安德特人和丹尼索瓦人之间的一个有趣差异对应于线粒体DNA D环区域中发现的一个基序,该基序负责线粒体DNA复制。该区域直接决定线粒体的数量,进而决定细胞的能量代谢效率。与丹尼索瓦人相比,尼安德特人在该区域有一段长的不间断的鸟嘌呤序列,这可能会给复制带来问题,而丹尼索瓦人的这段序列通常较短且有间断。有人可能会提出,占主导地位的尼安德特人基序在mtDNA复制和功能方面为现代人类提供了选择性优势。