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Genetic basis of a spontaneous mutation’s expressivity

Genetic background often influences the phenotypic consequences of mutations, resulting in variable expressivity. How standing genetic variants collectively cause this phenomenon is not fully understood. Here, we comprehensively identify loci in a budding yeast cross that impact the growth of indivi...

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Autores principales: Schell, Rachel, Hale, Joseph J, Mullis, Martin N, Matsui, Takeshi, Foree, Ryan, Ehrenreich, Ian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893249/
https://www.ncbi.nlm.nih.gov/pubmed/35078232
http://dx.doi.org/10.1093/genetics/iyac013
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author Schell, Rachel
Hale, Joseph J
Mullis, Martin N
Matsui, Takeshi
Foree, Ryan
Ehrenreich, Ian M
author_facet Schell, Rachel
Hale, Joseph J
Mullis, Martin N
Matsui, Takeshi
Foree, Ryan
Ehrenreich, Ian M
author_sort Schell, Rachel
collection PubMed
description Genetic background often influences the phenotypic consequences of mutations, resulting in variable expressivity. How standing genetic variants collectively cause this phenomenon is not fully understood. Here, we comprehensively identify loci in a budding yeast cross that impact the growth of individuals carrying a spontaneous missense mutation in the nuclear-encoded mitochondrial ribosomal gene MRP20. Initial results suggested that a single large effect locus influences the mutation’s expressivity, with 1 allele causing inviability in mutants. However, further experiments revealed this simplicity was an illusion. In fact, many additional loci shape the mutation’s expressivity, collectively leading to a wide spectrum of mutational responses. These results exemplify how complex combinations of alleles can produce a diversity of qualitative and quantitative responses to the same mutation.
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spelling pubmed-88932492022-03-04 Genetic basis of a spontaneous mutation’s expressivity Schell, Rachel Hale, Joseph J Mullis, Martin N Matsui, Takeshi Foree, Ryan Ehrenreich, Ian M Genetics Investigation Genetic background often influences the phenotypic consequences of mutations, resulting in variable expressivity. How standing genetic variants collectively cause this phenomenon is not fully understood. Here, we comprehensively identify loci in a budding yeast cross that impact the growth of individuals carrying a spontaneous missense mutation in the nuclear-encoded mitochondrial ribosomal gene MRP20. Initial results suggested that a single large effect locus influences the mutation’s expressivity, with 1 allele causing inviability in mutants. However, further experiments revealed this simplicity was an illusion. In fact, many additional loci shape the mutation’s expressivity, collectively leading to a wide spectrum of mutational responses. These results exemplify how complex combinations of alleles can produce a diversity of qualitative and quantitative responses to the same mutation. Oxford University Press 2022-01-25 /pmc/articles/PMC8893249/ /pubmed/35078232 http://dx.doi.org/10.1093/genetics/iyac013 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of Genetics Society of America. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Investigation
Schell, Rachel
Hale, Joseph J
Mullis, Martin N
Matsui, Takeshi
Foree, Ryan
Ehrenreich, Ian M
Genetic basis of a spontaneous mutation’s expressivity
title Genetic basis of a spontaneous mutation’s expressivity
title_full Genetic basis of a spontaneous mutation’s expressivity
title_fullStr Genetic basis of a spontaneous mutation’s expressivity
title_full_unstemmed Genetic basis of a spontaneous mutation’s expressivity
title_short Genetic basis of a spontaneous mutation’s expressivity
title_sort genetic basis of a spontaneous mutation’s expressivity
topic Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893249/
https://www.ncbi.nlm.nih.gov/pubmed/35078232
http://dx.doi.org/10.1093/genetics/iyac013
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