ArticleGenetics2022
Genetic basis of a spontaneous mutation's expressivity.
Article in Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 1 citations in OpenAlex.
- High-resolution genotype-free mapping of genetic variation with CRI-SPA-Map.Genome research · 2026Article
- The yeast Mkt1/Pbp1 complex promotes adaptive responses to respiratory growth.The Journal of cell biology · 2025Article
- High-resolution, genotype-free mapping of genetic variation with CRI-SPA-Map.bioRxiv : the preprint server for biology · 2025Article
- Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.European journal of endocrinology · 2025Review
- Genome-scale analysis of interactions between genetic perturbations and natural variation.Nature communications · 2024Article
- Genome-scale analysis of interactions between genetic perturbations and natural variation.bioRxiv : the preprint server for biology · 2024Article
- Identification of novel mutations in β-thalassemia patients in Maysan Governorate, Iraq.Molecular biology reports · 2023Article
- Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Frontiers in genetics · 2022Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.