Milesi Pascal, Weill Mylène, Lenormand Thomas, Labbé Pierrick
Institut des Sciences de l'Evolution de Montpellier (UMR 5554, CNRS-Université de Montpellier-IRD-EPHE) Campus Université de Montpellier Place Eugène Bataillon 34095 Montpellier CEDEX 05 France.
Centre d'Ecologie Fonctionnelle et Evolutive (UMR 5175, CNRS-Université de Montpellier-Université Paul-Valéry Montpellier-EPHE) 1919 route de Mende F-34293 Montpellier CEDEX 05 France.
Evol Lett. 2017 Jul 21;1(3):169-180. doi: 10.1002/evl3.17. eCollection 2017 Aug.
Gene duplications are widespread in genomes, but their role in contemporary adaptation is not fully understood. Although mostly deleterious, homogeneous duplications that associate identical repeats of a locus often increase the quantity of protein produced, which can be selected in certain environments. However, another type exists: heterogeneous gene duplications, which permanently associate two (or more) alleles of a single locus on the same chromosome. They are far less studied, as only few examples of contemporary heterogeneous duplications are known. Haldane proposed in 1954 that they could be adaptive in situations of heterozygote advantage, or overdominance, but this hypothesis was never tested. To assess its validity, we took advantage of the well-known model of insecticide resistance in mosquitoes. We used experimental evolution to estimate the fitnesses associated with homozygous and heterozygous genotypes in different selection regimes. It first showed that balanced antagonist selective pressures frequently induce overdominance, generating stable polymorphic equilibriums. The frequency of equilibrium moreover depends on the magnitude of two antagonistic selective pressures, the survival advantage conferred by the resistant allele versus the selective costs it induces. We then showed that heterogeneous duplications are selected over single-copy alleles in such contexts. They allow the fixation of the heterozygote phenotype, providing an alternative and stable intermediate fitness trade-off. By allowing the rapid fixation of divergent alleles, this immediate advantage could contribute to the rarity of overdominance. More importantly, it also creates new material for long-term genetic innovation, making a crucial but underestimated contribution to the evolution of new genes and gene families.
基因重复在基因组中广泛存在,但其在当代适应性中的作用尚未完全明晰。尽管大多是有害的,但与基因座的相同重复序列相关联的同质性重复通常会增加所产生蛋白质的数量,这在某些环境中可能会被选择。然而,还存在另一种类型:异质性基因重复,它将同一条染色体上单个基因座的两个(或更多)等位基因永久关联在一起。由于已知的当代异质性重复的例子很少,因此对它们的研究要少得多。霍尔丹在1954年提出,它们在杂合子优势或超显性的情况下可能具有适应性,但这一假设从未得到验证。为了评估其有效性,我们利用了蚊子抗杀虫剂这一广为人知的模型。我们采用实验进化方法来估计在不同选择条件下与纯合子和杂合子基因型相关的适应性。研究首先表明,平衡的拮抗选择压力经常会诱导超显性,产生稳定的多态平衡。此外,平衡的频率取决于两种拮抗选择压力的大小,即抗性等位基因赋予的生存优势与其所诱导的选择成本。然后我们表明,在这种情况下,异质性重复比单拷贝等位基因更易被选择。它们能够固定杂合子表型,提供一种替代的、稳定的中间适应性权衡。通过允许不同等位基因的快速固定,这种直接优势可能导致超显性现象的罕见性。更重要的是,它还为长期的基因创新创造了新的物质基础,对新基因和基因家族的进化做出了关键但被低估的贡献。