Department of Biology, Reed College, Portland OR 97202.
BOREA Research Unit, MNHN, CNRS 7208, Sorbonne Université, IRD 207, UCN, UA, Paris, France.
Genome Biol Evol. 2019 Oct 1;11(10):2856-2874. doi: 10.1093/gbe/evz185.
The initial sequencing of five cichlid genomes revealed an accumulation of genetic variation, including extensive copy number variation in cichlid lineages particularly those that have undergone dramatic evolutionary radiation. Gene duplication has the potential to generate substantial molecular substrate for the origin of evolutionary novelty. We use array-based comparative heterologous genomic hybridization to identify copy number variation events (CNVEs) for 168 samples representing 53 cichlid species including the 5 species for which full genome sequence is available. We identify an average of 50-100 CNVEs per individual. For those species represented by multiple samples, we identify 150-200 total CNVEs suggesting a substantial amount of intraspecific variation. For these species, only ∼10% of the detected CNVEs are fixed. Hierarchical clustering of species according to CNVE data recapitulates phylogenetic relationships fairly well at both the tribe and radiation level. Although CNVEs are detected on all linkage groups, they tend to cluster in "hotspots" and are likely to contain and be flanked by transposable elements. Furthermore, we show that CNVEs impact functional categories of genes with potential roles in adaptive phenotypes that could reasonably promote divergence and speciation in the cichlid clade. These data contribute to a more complete understanding of the molecular basis for adaptive natural selection, speciation, and evolutionary radiation.
最初对五个丽鱼科基因组进行测序揭示了遗传变异的积累,包括丽鱼科谱系中广泛的拷贝数变异,特别是那些经历了剧烈进化辐射的谱系。基因复制有可能为进化新颖性的起源提供大量的分子基质。我们使用基于阵列的比较异源基因组杂交技术来鉴定 168 个样本的拷贝数变异事件 (CNVEs),这些样本代表了 53 种丽鱼科物种,包括 5 种具有完整基因组序列的物种。我们发现每个个体平均有 50-100 个 CNVEs。对于那些有多个样本代表的物种,我们总共鉴定出 150-200 个 CNVEs,表明存在大量的种内变异。对于这些物种,只有约 10%的检测到的 CNVEs是固定的。根据 CNVE 数据对物种进行层次聚类,在部落和辐射水平上都很好地再现了系统发育关系。尽管在所有连锁群上都检测到 CNVEs,但它们往往聚集在“热点”中,并且可能包含并被转座元件包围。此外,我们表明 CNVEs 影响具有适应表型潜在作用的功能类别基因,这些基因可能合理地促进丽鱼科的分化和物种形成。这些数据有助于更全面地了解适应性自然选择、物种形成和进化辐射的分子基础。