Pleiotropy, epistasis and the genetic architecture of quantitative traits
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis (whereby non-linear interactions between genetic polymorphisms affect the same trait) are fundamental aspects of the genetic architecture of quantitative traits. Recent advances in the ability to characterize the eff...
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| Veröffentlicht in: | Nature reviews. Genetics 2024-09, Vol.25 (9), p.639-657 |
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| creator | Mackay, Trudy F. C. Anholt, Robert R. H. |
| description | Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis (whereby non-linear interactions between genetic polymorphisms affect the same trait) are fundamental aspects of the genetic architecture of quantitative traits. Recent advances in the ability to characterize the effects of polymorphic variants on molecular and organismal phenotypes in human and model organism populations have revealed the prevalence of pleiotropy and unexpected shared molecular genetic bases among quantitative traits, including diseases. By contrast, epistasis is common between polymorphic loci associated with quantitative traits in model organisms, such that alleles at one locus have different effects in different genetic backgrounds, but is rarely observed for human quantitative traits and common diseases. Here, we review the concepts and recent inferences about pleiotropy and epistasis, and discuss factors that contribute to similarities and differences between the genetic architecture of quantitative traits in model organisms and humans.
In this Review, Mackay and Anholt discuss how epistasis and pleiotropy contribute to the genetic architecture of quantitative traits and outline factors that might explain observed differences in their prevalence between model organisms and humans. |
| doi_str_mv | 10.1038/s41576-024-00711-3 |
| format | Article |
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| subjects | 631/208/191/1472 631/208/200 631/208/2490 631/208/457 631/208/729 Agriculture Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Cancer Research Epistasis Gene Function Gene polymorphism Human Genetics Organisms Phenotypes Pleiotropy Population genetics Review Article |
| title | Pleiotropy, epistasis and the genetic architecture of quantitative traits |
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