Department of Genetics and Evolution, University of Geneva, Geneva CH-1205.
Institute of Genetics and Genomics in Geneva (IGE3), University of Geneva, Geneva CH-1205.
Mol Biol Evol. 2023 Dec 1;40(12). doi: 10.1093/molbev/msad252.
Hybridization is recognized as an important evolutionary force, but identifying and timing admixture events between divergent lineages remain a major aim of evolutionary biology. While this has traditionally been done using inferential tools on contemporary genomes, the latest advances in paleogenomics have provided a growing wealth of temporally distributed genomic data. Here, we used individual-based simulations to generate chromosome-level genomic data for a 2-population system and described temporal neutral introgression patterns under a single- and 2-pulse admixture model. We computed 6 summary statistics aiming to inform the timing and number of admixture pulses between interbreeding entities: lengths of introgressed sequences and their variance within genomes, as well as genome-wide introgression proportions and related measures. The first 2 statistics could confidently be used to infer interlineage hybridization history, peaking at the beginning and shortly after an admixture pulse. Temporal variation in introgression proportions and related statistics provided more limited insights, particularly when considering their application to ancient genomes still scant in number. Lastly, we computed these statistics on Homo sapiens paleogenomes and successfully inferred the hybridization pulse from Neanderthal that occurred approximately 40 to 60 kya. The scarce number of genomes dating from this period prevented more precise inferences, but the accumulation of paleogenomic data opens promising perspectives as our approach only requires a limited number of ancient genomes.
杂交被认为是一种重要的进化力量,但识别和确定不同谱系之间的混合事件仍然是进化生物学的主要目标。虽然这传统上是使用现代基因组上的推理工具来完成的,但古基因组学的最新进展提供了越来越多的时间分布基因组数据。在这里,我们使用基于个体的模拟方法为 2 种群系统生成了染色体水平的基因组数据,并在单脉冲和双脉冲混合模型下描述了临时中性基因渗入模式。我们计算了 6 个汇总统计量,旨在提供关于杂交实体之间混合脉冲的时间和数量的信息:渗入序列的长度及其在基因组内的方差,以及全基因组基因渗入比例和相关度量。前 2 个统计量可以自信地用于推断谱系间杂交历史,在混合脉冲开始时和之后不久达到峰值。基因渗入比例和相关统计数据的时间变化提供了更有限的见解,特别是在考虑将其应用于数量仍然很少的古代基因组时。最后,我们在人类古基因组上计算了这些统计量,并成功推断出大约 40 到 60 千年前来自尼安德特人的杂交脉冲。这个时期的基因组数量很少,无法进行更精确的推断,但古基因组数据的积累开辟了有希望的前景,因为我们的方法只需要少量的古代基因组。