Department of Biosciences and Biomedical Engineering, Indian Institute of Technology Indore, Khandwa Road, Simrol, Indore 453 552, India.
J Biosci. 2022;47(4). doi: 10.1007/s12038-022-00290-7.
Genomic variations have been acclaimed as among the key players in understanding the biological mechanisms behind migration, evolution, and adaptation to extreme conditions. Due to stochastic evolutionary forces, the frequency of polymorphisms is affected by changes in the frequency of nearby polymorphisms in the same DNA sample, making them connected in terms of evolution. This article presents all the ingredients to understand the cumulative effects and complex behaviors of genetic variations in the human mitochondrial genome by analyzing co-occurrence networks of nucleotides, and shows key results obtained from such analyses. The article emphasizes recent investigations of these co-occurrence networks, describing the role of interactions between nucleotides in fundamental processes of human migration and viral evolution. The corresponding co-mutation-based genetic networks revealed genetic signatures of human adaptation in extreme environments. This article provides the methods of constructing such networks in detail, along with their graph-theoretical properties, and applications of the genomic networks in understanding the role of nucleotide co-evolution in evolution of the whole genome.
基因组变异被认为是理解迁徙、进化以及对极端条件适应背后的生物学机制的关键因素之一。由于随机进化力量的影响，多态性的频率受到同一 DNA 样本中附近多态性频率变化的影响，因此在进化上它们是相互关联的。本文通过分析核苷酸的共现网络，介绍了理解人类线粒体基因组中遗传变异的累积效应和复杂行为所需的所有成分，并展示了从这些分析中获得的关键结果。本文强调了对这些共现网络的最新研究，描述了核苷酸之间相互作用在人类迁徙和病毒进化的基本过程中的作用。基于共突变的遗传网络揭示了人类在极端环境中的适应遗传特征。本文详细提供了构建这些网络的方法，以及它们的图论性质，并展示了基因组网络在理解核苷酸共同进化在整个基因组进化中的作用方面的应用。
