2022
DOI: 10.1101/2022.05.12.491649
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Complexities of recapitulating polygenic effects in natural populations: replication of genetic effects on wing shape in artificially selected and wild caught populations ofDrosophila melanogaster

Abstract: Identifying the genetic architecture of complex traits is of interest to many geneticists, including those interested in human disease, plant and animal breeding and evolutionary genetics. Despite advances in sequencing technologies and GWAS statistical methods improving our ability to identify variants with smaller effect sizes, many of these identified polymorphisms fail to be replicated in subsequent studies. In addition to sampling variation, this reflects the complexities introduced by factors including e… Show more

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Cited by 3 publications
(5 citation statements)
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References 64 publications
(156 reference statements)
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“…Alternatively, it is possible that these effect vectors do not estimate directions of effects well, and further titrating the strength of knockdowns may help to obtain better estimates. It is also possible that the RNAi knockdown does not correlate with the segregating allelic effect of the candidate genes, although previous studies have demonstrated correlation between segregating polymorphisms and genetic knockdown effects for wing shape (Pelletier et al, 2023; Pitchers et al, 2019). Quantitative complementation mapping experiments identified two regions that may be related to shape change in the same direction as the altitudinal effect vector (Figure 7).…”
Section: Discussionmentioning
confidence: 99%
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“…Alternatively, it is possible that these effect vectors do not estimate directions of effects well, and further titrating the strength of knockdowns may help to obtain better estimates. It is also possible that the RNAi knockdown does not correlate with the segregating allelic effect of the candidate genes, although previous studies have demonstrated correlation between segregating polymorphisms and genetic knockdown effects for wing shape (Pelletier et al, 2023; Pitchers et al, 2019). Quantitative complementation mapping experiments identified two regions that may be related to shape change in the same direction as the altitudinal effect vector (Figure 7).…”
Section: Discussionmentioning
confidence: 99%
“…For example, the Hippo developmental network is best known for its role in regulation of organ size, including the size of Drosophila wings. Variants in genes in the hippo signaling pathway influence wing shape variation, with correlated phenotypic effects (Pelletier et al, 2023; Pitchers et al, 2019). Interestingly, allele frequency changes across multiple hippo signaling loci following artificial selection for wing shape changes did not result in substantial wing size change (Pelletier et al, 2023).…”
Section: Discussionmentioning
confidence: 99%
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“…In this way, a population will evolve in the same direction of trait space by accumulating mutations in any of those equivalent elements. This redundancy can explain why genetic changes underlying parallel evolution often fail to be replicated (e.g., Pelletier et al 2023), since multiple changes at the genetic 20 level can explain the same phenotypic adaptations.…”
Section: Discussionmentioning
confidence: 99%
“…Indeed, this is a commonly used multiple testing approach in practical applications with allele frequency testing (see e.g. [ 27 , 28 ]). We also considered the multiple testing approaches presented in " Multiple testing procedure " section.…”
Section: Methodsmentioning
confidence: 99%