The evolution of tandem repeat sequences under partial selfing and different modes of selection

Abstract

Tandem repeat sequences (TRs) occur when short DNA motifs are repeated head-to-tail along chromosomes and are a major source of genetic variation. Population genetics models of TR evolution have focused on large, randomly mating, haploid populations. Yet many organisms reproduce partially through self-fertilisation ("selfing"), which increases homozygosity and thus may alter the evolutionary processes shaping TRs. Here we use mathematical modelling and simulations to study the evolution of homologous TRs in partially selfing, diploid populations under four different selective regimes that may be relevant to TRs: (i) additive purifying selection, (ii) truncation-like purifying selection, (iii) selection against heterozygotes due to misalignment costs, and (iv) stabilising selection favouring an intermediate TR length. We show that selfing influences TR evolution primarily by increasing homozygosity, with two main consequences: (1) it enhances the variation produced by unequal recombination within individuals, and (2) it increases variation between individuals. Consequently, selection against TR expansions becomes more effective under partial selfing across all modes of selection considered, resulting in shorter TRs and lower genetic load, despite higher genetic drift. Overall, our results suggest that mating systems and inbreeding are important factors shaping variation in TRs.