Cargando…
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...
Autores principales: | , , , , , |
---|---|
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 |
_version_ | 1784662350772568064 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8893249 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT schellrachel geneticbasisofaspontaneousmutationsexpressivity AT halejosephj geneticbasisofaspontaneousmutationsexpressivity AT mullismartinn geneticbasisofaspontaneousmutationsexpressivity AT matsuitakeshi geneticbasisofaspontaneousmutationsexpressivity AT foreeryan geneticbasisofaspontaneousmutationsexpressivity AT ehrenreichianm geneticbasisofaspontaneousmutationsexpressivity |