Fig. 2. Historically small populations have more deleterious genetic load in protein-coding genes.
Proportion of homozygous missense substitutions (A-B), heterozygous missense variants (C-D) and heterozygous loss-of-function variants (E-F) in genes as a function of historical Ne across species. Genes were classified by associated lethal or viable phenotypes in knockout mice. Proportions of heterozygous and homozygous missense mutations were negatively correlated with Ne (all p<0.052), whereas heterozygous loss-of-function alleles were not consistently correlated with Ne. Phylogenetically corrected p-values and coefficients (phylolm) are reported.