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Cited by 306Evolution and Genetic DynamicsGenetic diversity and population structureGenetic and phenotypic traits in livestock

Genetic load: genomic estimates and applications in non-model animals

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Bertorelle, Giorgio, Raffini, Francesca, Bosse, Mirte, Bortoluzzi, Chiara, Iannucci, Alessio, Trucchi, Emiliano, Morales, Hernán E., van Oosterhout, Cock·2022·Nature Reviews Genetics
DOI 10.1038/s41576-022-00448-x
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Abstract

Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.

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  • Simulations showed an overall increase in realized genetic load during the saola population size decline.

    “Simulations showed an overall increase in realized genetic load (the genetic load that is expressed as negative fitness effect; Bertorelle et al.49) during the saola population size decline”

    From Genomes of critically endangered saola are shaped by population structure and purging (2025) · cites this paper as Bertorelle et al.49

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Cited by

Sorted by citations

Authors
Bertorelle, G., Raffini, F., Bosse, M., Bortoluzzi, C., Iannucci, A., Trucchi, E., Morales, H. E., & van Oosterhout, C.
Affiliations
  • University of Ferrara (IT)
  • Vrije Universiteit Amsterdam (NL)
  • University of Cambridge (GB)
  • University of Florence (IT)
  • Marche Polytechnic University (IT)
  • University of Copenhagen (DK)
Corresponding author
Bertorelle, Giorgio
ORCID
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2022-02-08
Volume
23
Issue
8
Pages
492-503
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/s41576-022-00448-x
OpenAlex
W4210906940
Cited by
306
References
9
Citations by year
2026: 75 · 2025: 83 · 2024: 68 · 2023: 58 · 2022: 19 · 2021: 1 · 2017: 1
FWCI
8.77
Type
journal article
Language
en
Open access
Licence
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
  • UEA Digital Repository (University of East Anglia) (acceptedVersion)
  • Socio-Environmental Systems Modeling (acceptedVersion)
  • Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion, other-oa)
  • Florence Research (University of Florence) (submittedVersion)
  • Università Politecnica delle Marche (Università Politecnica delle Marche) (submittedVersion)
  • VU Research Portal (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Funders
  • Wellcome Trust (WT207492)
  • European Commission (PRIN 2017, 840519, HORIZON2020)
  • Nederlandse Organisatie voor Wetenschappelijk Onderzoek (016.Veni.181.050, 016.Veni)
  • Ministero dell’Istruzione, dell’Università e della Ricerca (PRIN_2017, 201794ZXTL)
  • Earth and Life Systems Alliance (ICA\R1\201194)
  • Università degli Studi di Ferrara (201794ZXTL)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
genetic load, deleterious mutations, inbreeding load, non-model organisms, whole genome sequencing, population fitness, evolutionary conservation, population genetics, mutational burden
MeSH terms
Animals, Genetics, Population, Inbreeding, Mutation, Genetic Variation, Genome, Genomics, Genetic Load

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