Single Nucleotide Variants in Transcription Factors Associate More Tightly with Phenotype than with Gene Expression

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There have been major efforts in the study of human disease to identify genetic polymorphisms that cause changes in gene expression. The assumption underlying these studies is that gene expression changes will be responsible for the disease. However, it is unclear if we can predict how a polymorphism affects the variation in disease based on the extent to which it explains variation in gene expression. We have taken advantage of four genetic polymorphisms that affect the ability of budding yeast cells to form spores. The variants were identified in naturally occurring strains, subject to natural selection pressures in the wild, and not from lab strains. These variants lie in factors that control gene expression, which gives us power to compare how the polymorphisms affect variation in both gene expression and the downstream phenotype. We find that the amount of variation in gene expression explained by the variants does not correlate with the amount of variation observed in spore formation, which has implications for studies that attempt to infer the effect of a polymorphism on phenotypic variation by studying its effect on gene expression variation.

Vyšlo v časopise: Single Nucleotide Variants in Transcription Factors Associate More Tightly with Phenotype than with Gene Expression. PLoS Genet 10(5): e32767. doi:10.1371/journal.pgen.1004325
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004325

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