Department of Human and Medical Genetics, Faculty of Medicine, Biomedical Science Institute, Vilnius University, Santariskiu Street 2, 08661, Vilnius, Lithuania.
Sci Rep. 2023 Jul 24;13(1):11941. doi: 10.1038/s41598-023-39249-5.
Differences in the relative fitness of genomic variants are foundational, without these, neither natural selection nor adaption can exist. This research analyzed two microevolutionary forces, mutations, and positive selection, using whole genome sequencing data from Lithuanians across three generations: newborns (generation I), their parents (generation II), 60 years old Lithuanians, and the root ancestors (generation III). The main objective was to determine the frequency of mutations under selection in modern humans and how allele frequencies change across generations. Our results show that going through all the landscapes of the relative fitness on each chromosome, the general relative fitness background pattern remains the same in analysed generations. However, the tendency of relative fitness to decrease, in general, is noted. We hypothesize that the de novo genome variants or genome variants with a very low frequency that formed in the previous generation did not have time to be as affected by natural selection, thus, in the following generation, the force of natural selection acting on them is greater and their cumulative relative fitness also decreases. The strong natural selection pressure on the genetic regions that encode the NEGR1 and PTPN1/PTNP21 genes were also identified, highlighting the evolution of the Lithuanian population's genome over generations, and possible genomic "deficiencies" for better adaptation.
基因组变异的相对适应性差异是基础,如果没有这些差异,自然选择和适应都不可能存在。本研究使用立陶宛三代人的全基因组测序数据(新生儿(第一代)、他们的父母(第二代)、60 岁的立陶宛人和根祖先(第三代))分析了两种微观进化力量:突变和正选择。主要目的是确定现代人类选择下的突变频率以及等位基因频率如何在各代之间变化。我们的研究结果表明,在每个染色体的相对适应性的所有景观中,在分析的世代中,一般的相对适应性背景模式保持不变。然而,相对适应性下降的趋势是明显的。我们假设在前一代形成的新的基因组变异或频率非常低的基因组变异没有时间受到自然选择的影响,因此在下一个世代中,作用于它们的自然选择的力量更大,它们的累积相对适应性也会降低。还确定了 NEGR1 和 PTPN1/PTNP21 基因编码区域的强烈自然选择压力,突出了立陶宛人口基因组在几代人中的进化,以及可能的基因组“缺陷”,以更好地适应。