Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), Southwest University School of Life Sciences, Chongqing, China.
Department of Laboratory Animal Science, College of Basic Medical Sciences, Army Medical University (Third Military Medical University), Chongqing, China.
Mol Ecol. 2022 Nov;31(22):5831-5845. doi: 10.1111/mec.16700. Epub 2022 Oct 2.
All cavefishes, living exclusively in caves across the globe, exhibit similar phenotypic traits, including the characteristic loss of eyes. To understand whether such phenotypic convergence shares similar genomic bases, here we investigated genome-wide evolutionary signatures of cavefish phenotypes by comparing whole-genome sequences of three pairs of cavefishes and their surface fish relatives. Notably, we newly sequenced and generated a whole-genome assembly of the Chinese cavefish Triplophysa rosa. Our comparative analyses revealed several shared features of cavefish genome evolution. Cavefishes had lower mutation rates than their surface fish relatives. In contrast, the ratio of nonsynonymous to synonymous substitutions (ω) was significantly elevated in cavefishes compared to in surface fishes, consistent with the relaxation of purifying selection. In addition, cavefish genomes had an increased mutational load, including mutations that alter protein hydrophobicity profiles, which were considered harmful. Interestingly, however, we found no overlap in positively selected genes among different cavefish lineages, indicating that the phenotypic convergence in cavefishes was not caused by positive selection of the same sets of genes. Analyses of previously identified candidate genes associated with cave phenotypes supported this conclusion. Genes belonging to the lipid metabolism functional ontology were under relaxed purifying selection in all cavefish genomes, which may be associated with the nutrient-poor habitat of cavefishes. Our work reveals previously uncharacterized patterns of cavefish genome evolution and provides comparative insights into the evolution of cave-associated phenotypic traits.
所有洞穴鱼类,生活在全球各地的洞穴中,都表现出相似的表型特征,包括眼睛特征性的缺失。为了了解这种表型趋同是否具有相似的基因组基础,我们通过比较三对洞穴鱼及其近缘的地表鱼类的全基因组序列,研究了洞穴鱼表型的全基因组进化特征。值得注意的是,我们新测序并生成了中国洞穴鱼玫瑰无须魮的全基因组图谱。我们的比较分析揭示了洞穴鱼基因组进化的几个共同特征。洞穴鱼的突变率低于其近缘的地表鱼类。相比之下,洞穴鱼的非同义替换与同义替换的比值(ω)显著高于地表鱼类,这与净化选择的放松一致。此外,洞穴鱼的基因组具有更高的突变负荷,包括改变蛋白质疏水性特征的突变,这些突变被认为是有害的。有趣的是,然而,我们没有发现不同洞穴鱼谱系之间的正选择基因重叠,这表明洞穴鱼的表型趋同不是由同一组基因的正选择引起的。对先前与洞穴表型相关的候选基因的分析支持了这一结论。属于脂质代谢功能本体的基因在所有洞穴鱼基因组中受到净化选择的放松,这可能与洞穴鱼的贫营养栖息地有关。我们的工作揭示了洞穴鱼基因组进化的先前未描述的模式,并为洞穴相关表型特征的进化提供了比较性的见解。