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      Deleterious alleles in the context of domestication, inbreeding, and selection

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          Abstract

          Each individual has a certain number of harmful mutations in its genome. These mutations can lower the fitness of the individual carrying them, dependent on their dominance and selection coefficient. Effective population size, selection, and admixture are known to affect the occurrence of such mutations in a population. The relative roles of demography and selection are a key in understanding the process of adaptation. These are factors that are potentially influenced and confounded in domestic animals. Here, we hypothesize that the series of events of bottlenecks, introgression, and strong artificial selection associated with domestication increased mutational load in domestic species. Yet, mutational load is hard to quantify, so there are very few studies available revealing the relevance of evolutionary processes. The precise role of artificial selection, bottlenecks, and introgression in further increasing the load of deleterious variants in animals in breeding and conservation programmes remains unclear. In this paper, we review the effects of domestication and selection on mutational load in domestic species. Moreover, we test some hypotheses on higher mutational load due to domestication and selective sweeps using sequence data from commercial pig and chicken lines. Overall, we argue that domestication by itself is not a prerequisite for genetic erosion, indicating that fitness potential does not need to decline. Rather, mutational load in domestic species can be influenced by many factors, but consistent or strong trends are not yet clear. However, methods emerging from molecular genetics allow discrimination of hypotheses about the determinants of mutational load, such as effective population size, inbreeding, and selection, in domestic systems. These findings make us rethink the effect of our current breeding schemes on fitness of populations.

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          The hitch-hiking effect of a favourable gene

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            The genetics of inbreeding depression.

            Inbreeding depression - the reduced survival and fertility of offspring of related individuals - occurs in wild animal and plant populations as well as in humans, indicating that genetic variation in fitness traits exists in natural populations. Inbreeding depression is important in the evolution of outcrossing mating systems and, because intercrossing inbred strains improves yield (heterosis), which is important in crop breeding, the genetic basis of these effects has been debated since the early twentieth century. Classical genetic studies and modern molecular evolutionary approaches now suggest that inbreeding depression and heterosis are predominantly caused by the presence of recessive deleterious mutations in populations.
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              Design of a High Density SNP Genotyping Assay in the Pig Using SNPs Identified and Characterized by Next Generation Sequencing Technology

              Background The dissection of complex traits of economic importance to the pig industry requires the availability of a significant number of genetic markers, such as single nucleotide polymorphisms (SNPs). This study was conducted to discover several hundreds of thousands of porcine SNPs using next generation sequencing technologies and use these SNPs, as well as others from different public sources, to design a high-density SNP genotyping assay. Methodology/Principal Findings A total of 19 reduced representation libraries derived from four swine breeds (Duroc, Landrace, Large White, Pietrain) and a Wild Boar population and three restriction enzymes (AluI, HaeIII and MspI) were sequenced using Illumina's Genome Analyzer (GA). The SNP discovery effort resulted in the de novo identification of over 372K SNPs. More than 549K SNPs were used to design the Illumina Porcine 60K+SNP iSelect Beadchip, now commercially available as the PorcineSNP60. A total of 64,232 SNPs were included on the Beadchip. Results from genotyping the 158 individuals used for sequencing showed a high overall SNP call rate (97.5%). Of the 62,621 loci that could be reliably scored, 58,994 were polymorphic yielding a SNP conversion success rate of 94%. The average minor allele frequency (MAF) for all scorable SNPs was 0.274. Conclusions/Significance Overall, the results of this study indicate the utility of using next generation sequencing technologies to identify large numbers of reliable SNPs. In addition, the validation of the PorcineSNP60 Beadchip demonstrated that the assay is an excellent tool that will likely be used in a variety of future studies in pigs.
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                Author and article information

                Contributors
                mirte.bosse@wur.nl
                Journal
                Evol Appl
                Evol Appl
                10.1111/(ISSN)1752-4571
                EVA
                Evolutionary Applications
                John Wiley and Sons Inc. (Hoboken )
                1752-4571
                08 September 2018
                January 2019
                : 12
                : 1 , Genomics of Domestication ( doiID: 10.1111/eva.2019.12.issue-1 )
                : 6-17
                Affiliations
                [ 1 ] Animal Breeding and Genomics Wageningen University & Research Wageningen The Netherlands
                [ 2 ] Centre d’Ecologie Fonctionnelle et Evolutive CNRS Université de Montpellier Université Paul Valéry Montpellier 3 EPHE, IRD Montpellier France
                Author notes
                [*] [* ] Correspondence

                Mirte Bosse, Animal Breeding and Genomics, Wageningen University & Research, Wageningen, The Netherlands.

                Email: mirte.bosse@ 123456wur.nl

                Author information
                http://orcid.org/0000-0003-2433-2483
                Article
                EVA12691
                10.1111/eva.12691
                6304688
                30622631
                2565952f-278b-4f73-adf7-392fb6929bae
                © 2018 The Authors. Evolutionary Applications published by John Wiley & Sons Ltd

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                : 20 November 2017
                : 30 May 2018
                : 12 June 2018
                Page count
                Figures: 5, Tables: 0, Pages: 12, Words: 8854
                Funding
                Funded by: NWO‐TTW
                Funded by: Breed4Food
                Categories
                Special Issue Reviews and Syntheses
                Special Issue Reviews and Syntheses
                Custom metadata
                2.0
                eva12691
                January 2019
                Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.5.4 mode:remove_FC converted:24.12.2018

                Evolutionary Biology
                deleterious alleles,domestication,genetic load,inbreeding,selection
                Evolutionary Biology
                deleterious alleles, domestication, genetic load, inbreeding, selection

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