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.
| Original language | English |
|---|---|
| Pages (from-to) | 492-503 |
| Number of pages | 12 |
| Journal | Nature Reviews Genetics |
| Volume | 23 |
| Issue number | 8 |
| Early online date | 8 Feb 2022 |
| DOIs | |
| Publication status | Published - Aug 2022 |
Bibliographical note
Funding Information:The authors thank D. Charlesworth and A. Caballero for helpful comments on a previous version of the manuscript. C.v.O. was supported by the Royal Society International Collaborations Award (ICA\R1\201194) and the Earth and Life Systems Alliance (ELSA). G.B. and F.R. were supported by the University of Ferrara (Italy). G.B., F.R., A.I. and E.T. were funded by the MIUR PRIN 2017 grant 201794ZXTL to G.B. M.B. was financially supported by the Dutch NWO Veni grant n. 016.Veni.181.050. H.E.M. was funded by an EMBO long-term fellowship (grant 1111-2018) and the European Union’s Horizon 2020 research and innovation programme under a Marie Sklodowska-Curie grant (840519). C.B. is funded by the Wellcome grant WT207492.
Publisher Copyright:
© 2022, Springer Nature Limited.
Funding
The authors thank D. Charlesworth and A. Caballero for helpful comments on a previous version of the manuscript. C.v.O. was supported by the Royal Society International Collaborations Award (ICA\R1\201194) and the Earth and Life Systems Alliance (ELSA). G.B. and F.R. were supported by the University of Ferrara (Italy). G.B., F.R., A.I. and E.T. were funded by the MIUR PRIN 2017 grant 201794ZXTL to G.B. M.B. was financially supported by the Dutch NWO Veni grant n. 016.Veni.181.050. H.E.M. was funded by an EMBO long-term fellowship (grant 1111-2018) and the European Union’s Horizon 2020 research and innovation programme under a Marie Sklodowska-Curie grant (840519). C.B. is funded by the Wellcome grant WT207492.
| Funders | Funder number |
|---|---|
| Università degli Studi di Ferrara | |
| Nederlandse Organisatie voor Wetenschappelijk Onderzoek | |
| Horizon 2020 Framework Programme | |
| Earth and Life Systems Alliance | |
| H2020 Marie Skłodowska-Curie Actions | 840519 |
| Wellcome Trust | WT207492, 207492 |
| Ministero dell’Istruzione, dell’Università e della Ricerca | 201794ZXTL |
| Royal Society | ICA\R1\201194 |
| European Molecular Biology Organization | 1111-2018 |