Impact of population structure in the estimation of recent historical effective population size by the software GONE

• Published in: Genetics selection evolution (Paris) 2023-12, Vol.55 (1), p.86-86, Article 86
• Main Authors: Novo, Irene, Ordás, Pilar, Moraga, Natalia, Santiago, Enrique, Quesada, Humberto, Caballero, Armando
• Format: Article
• Language: English
• Subjects: Admixtures; Animal breeding; animals; Behavior; Bias; Breeding; Chromosomes; computer software; computers; Conservation genetics; Demography; effective population size; Estimates; Estimation; Genetic structure; Genetics; Genomes; genomics; Inversions; Life Sciences; Mathematical models; Methods; Migration; Mutation; Population; Population number; Population structure; Population studies; Populations; Simulation; Simulation methods; Software; Subpopulations; Wildlife conservation
• ISSN: 1297-9686; 0999-193X; 1297-9686
• DOI: 10.1186/s12711-023-00859-2

Effective population size (N.sub.e) is a crucial parameter in conservation genetics and animal breeding. A recent method, implemented by the software GONE, has been shown to be rather accurate in estimating recent historical changes in N.sub.e from a single sample of individuals. However, GONE estimations assume that the population being studied has remained isolated for a period of time, that is, without migration or confluence of other populations. If this occurs, the estimates of N.sub.e can be heavily biased. In this paper, we evaluate the impact of migration and admixture on the estimates of historical N.sub.e provided by GONE through a series of computer simulations considering several scenarios: (a) the mixture of two or more ancestral populations; (b) subpopulations that continuously exchange individuals through migration; (c) populations receiving migrants from a large source; and (d) populations with balanced systems of chromosomal inversions, which also generate genetic structure. Our results indicate that the estimates of historical N.sub.e provided by GONE may be substantially biased when there has been a recent mixture of populations that were previously separated for a long period of time. Similarly, biases may occur when the rate of continued migration between populations is low, or when chromosomal inversions are present at high frequencies. However, some biases due to population structuring can be eliminated by conducting population structure analyses and restricting the estimation to the differentiated groups. In addition, disregarding the genomic regions that are involved in inversions can also remove biases in the estimates of N.sub.e. Different kinds of deviations from isolation and panmixia of the populations can generate biases in the recent historical estimates of N.sub.e. Therefore, estimation of past demography could benefit from performing population structure analyses beforehand, by mitigating the impact of these biases on historical N.sub.e estimates.