RT Journal Article
SR Electronic
T1 Genetic basis of a spontaneous mutation’s expressivity
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2020.04.03.024547
DO 10.1101/2020.04.03.024547
A1 Rachel Schell
A1 Joseph J. Hale
A1 Martin N. Mullis
A1 Takeshi Matsui
A1 Ryan Foree
A1 Ian M. Ehrenreich
YR 2021
UL http://biorxiv.org/content/early/2021/08/02/2020.04.03.024547.abstract
AB 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 one 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.Competing Interest StatementThe authors have declared no competing interest.