Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale

ABSTRACT The reduced genetic diversity and frequent inbreeding associated with small population size may underpin the accumulation and expression of deleterious mutations (mutation load) in some declining populations. However, demographic perturbations and inbreeding coupled with purifying selection...

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Main Authors: Richard W. Orton, Philip K. Hamilton, Timothy R. Frasier
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Evolutionary Applications
Subjects:
Online Access:https://doi.org/10.1111/eva.70055
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author Richard W. Orton
Philip K. Hamilton
Timothy R. Frasier
author_facet Richard W. Orton
Philip K. Hamilton
Timothy R. Frasier
author_sort Richard W. Orton
collection DOAJ
description ABSTRACT The reduced genetic diversity and frequent inbreeding associated with small population size may underpin the accumulation and expression of deleterious mutations (mutation load) in some declining populations. However, demographic perturbations and inbreeding coupled with purifying selection can also purge declining populations of deleterious mutations, leading to intriguing recoveries. To better understand the links between deleterious genetic variation and population status, we assess patterns of genetic diversity, inbreeding, and mutation load across the genomes of three species of Balaenidae whale with different demographic histories and recoveries following the end of commercial whaling in the 1980s. Unlike bowhead (BH) and Southern right whales (SRW), which show signs of recent recovery, reproductive rates of the endangered North Atlantic right whale (NARW) remain lower than expected. We show that the NARW is currently marked by low genetic diversity, historical inbreeding, and a high mutation load. Still, we reveal evidence that genetic purging has reduced the frequency of highly deleterious alleles in NARW, which could increase chances of future population recovery. We also identify a suite of mutations putatively linked to congenital defects that occur at high frequencies in nulliparous NARW females but are rare in NARW with high reproductive success. These same mutations are nearly absent in BH and SRW in this study, suggesting that the purging of key variants may shape the probability of population recovery. As anthropogenic disturbances continue to reduce the sizes of many populations in nature, resolving the links between population dynamics and mutation load could become increasingly important.
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spelling doaj-art-3a2d1c1c85034c8cabced7de744e298f2025-01-29T07:57:46ZengWileyEvolutionary Applications1752-45712024-12-011712n/an/a10.1111/eva.70055Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right WhaleRichard W. Orton0Philip K. Hamilton1Timothy R. Frasier2Department of Biology Saint Mary's University Halifax Nova Scotia CanadaAnderson Cabot Center for Ocean Life New England Aquarium Boston Massachusetts USADepartment of Biology Saint Mary's University Halifax Nova Scotia CanadaABSTRACT The reduced genetic diversity and frequent inbreeding associated with small population size may underpin the accumulation and expression of deleterious mutations (mutation load) in some declining populations. However, demographic perturbations and inbreeding coupled with purifying selection can also purge declining populations of deleterious mutations, leading to intriguing recoveries. To better understand the links between deleterious genetic variation and population status, we assess patterns of genetic diversity, inbreeding, and mutation load across the genomes of three species of Balaenidae whale with different demographic histories and recoveries following the end of commercial whaling in the 1980s. Unlike bowhead (BH) and Southern right whales (SRW), which show signs of recent recovery, reproductive rates of the endangered North Atlantic right whale (NARW) remain lower than expected. We show that the NARW is currently marked by low genetic diversity, historical inbreeding, and a high mutation load. Still, we reveal evidence that genetic purging has reduced the frequency of highly deleterious alleles in NARW, which could increase chances of future population recovery. We also identify a suite of mutations putatively linked to congenital defects that occur at high frequencies in nulliparous NARW females but are rare in NARW with high reproductive success. These same mutations are nearly absent in BH and SRW in this study, suggesting that the purging of key variants may shape the probability of population recovery. As anthropogenic disturbances continue to reduce the sizes of many populations in nature, resolving the links between population dynamics and mutation load could become increasingly important.https://doi.org/10.1111/eva.70055genetic purginginbreedingmutation loadNorth Atlantic right whale
spellingShingle Richard W. Orton
Philip K. Hamilton
Timothy R. Frasier
Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
Evolutionary Applications
genetic purging
inbreeding
mutation load
North Atlantic right whale
title Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
title_full Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
title_fullStr Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
title_full_unstemmed Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
title_short Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale
title_sort genomic evidence for the purging of deleterious genetic variation in the endangered north atlantic right whale
topic genetic purging
inbreeding
mutation load
North Atlantic right whale
url https://doi.org/10.1111/eva.70055
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