RT Journal Article SR Electronic T1 Evidence of long-term purging of mutation load in killer whale genomes JF bioRxiv FD Cold Spring Harbor Laboratory SP 2021.08.21.457186 DO 10.1101/2021.08.21.457186 A1 Andrew D. Foote A1 M. Thomas P. Gilbert A1 Shyam Gopalakrishnan A1 Marie Louis A1 Michael D. Martin A1 Phillip A. Morin A1 Milaja Nykänen A1 Camilla Hjorth Scharff-Olsen A1 Laurent Excoffier YR 2021 UL http://biorxiv.org/content/early/2021/08/21/2021.08.21.457186.1.abstract AB Genomes of high latitude killer whales harbour signatures of post-glacial founding and expansion. Here, we investigate whether reduced efficacy of selection increased mutation load in founder populations, or whether recessive deleterious mutations exposed to selection in homozygous genotypes were purged. Comparing the accumulation of synonymous and non-synonymous mutations across pairs of globally sampled genomes reveals that the most significant outliers are high latitude North Atlantic genomes, which have accumulated significantly fewer non-synonymous mutations than all other populations. Comparisons with the genome of a 7.5-Kyr-old North Atlantic killer whale, inferred to be closely related to the population directly ancestral to present-day Icelandic and Norwegian populations, calibrates the timing of the action of selection on non-synonymous mutations predominantly to the mid-late Holocene. Non-synonymous mutations purged in modern Norwegian killer whale genomes are found as globally shared standing variation in heterozygote genotypes more often than expected, suggesting overdominance. Taken together, our findings are consistent with purging of recessive non-synonymous mutations exposed to selection in founder-associated homozygous genotypes.Competing Interest StatementThe authors have declared no competing interest.