Division of Evolutionary Biology, Faculty of Biology, Ludwig-Maximilians-University Munich, Planegg-Martinsried, Germany.
Faculty of Biology, Department of Theoretical Biology, Bielefeld University, Bielefeld, Germany.
Mol Biol Evol. 2021 Oct 27;38(11):4891-4907. doi: 10.1093/molbev/msab215.
Understanding how genetic variation is maintained within species is a major goal of evolutionary genetics that can shed light on the preservation of biodiversity. Here, we examined the maintenance of a regulatory single-nucleotide polymorphism (SNP) of the X-linked Drosophila melanogaster gene fezzik. The derived variant at this site is at intermediate frequency in many worldwide populations but absent in populations from the ancestral species range in sub-Saharan Africa. We collected and genotyped wild-caught individuals from a single European population biannually over a period of 5 years, which revealed an overall difference in allele frequency between the sexes and a consistent change in allele frequency across seasons in females but not in males. Modeling based on the observed allele and genotype frequencies suggested that both sexually antagonistic and temporally fluctuating selection may help maintain variation at this site. The derived variant is predicted to be female-beneficial and mostly recessive; however, there was uncertainty surrounding our dominance estimates and long-term modeling projections suggest that it is more likely to be dominant. By examining gene expression phenotypes, we found that phenotypic dominance was variable and dependent upon developmental stage and genetic background, suggesting that dominance may be variable at this locus. We further determined that fezzik expression and genotype are associated with starvation resistance in a sex-dependent manner, suggesting a potential phenotypic target of selection. By characterizing the mechanisms of selection acting on this SNP, our results improve our understanding of how selection maintains genetic and phenotypic variation in natural populations.
了解遗传变异在物种内是如何维持的是进化遗传学的主要目标,它可以揭示生物多样性的保护。在这里,我们研究了维持 X 连锁果蝇基因 fezzik 的调节性单核苷酸多态性(SNP)。该位点的衍生变体在许多世界范围内的种群中处于中间频率,但在撒哈拉以南非洲的祖先物种范围内的种群中不存在。我们在 5 年内每两年从一个单一的欧洲种群中收集和基因分型野生个体,结果显示雌雄之间的等位基因频率存在总体差异,并且雌性的等位基因频率在整个季节中都有一致的变化,但在雄性中没有。基于观察到的等位基因和基因型频率进行建模表明,性拮抗和随时间波动的选择都可能有助于维持该位点的变异。衍生变体被预测对雌性有益且主要为隐性;然而,我们的显性估计值存在不确定性,长期建模预测表明它更可能是显性的。通过检查基因表达表型,我们发现表型显性是可变的,并且依赖于发育阶段和遗传背景,这表明该基因座的显性可能是可变的。我们进一步确定 fezzik 的表达和基因型与以性别依赖的方式抵抗饥饿有关,这表明它可能是选择的一个潜在表型靶标。通过描述作用于该 SNP 的选择机制,我们的研究结果提高了我们对自然种群中遗传和表型变异如何受选择维持的理解。