title: Assessing the genome-wide effect of promoter region tandem repeat natural variation on gene expression.
abstract: Copy number polymorphisms of nucleotide tandem repeat (TR) regions, such as microsatellites and minisatellites, are mutationally reversible and highly abundant in eukaryotic genomes. Studies linking TR polymorphism to phenotypic variation have led some to suggest that TR variation modulates and majorly contributes to phenotypic variation; however, studies in which the authors assess the genome-wide impact of TR variation on phenotype are lacking. To address this question, we quantified relationships between polymorphism levels in 143 genome-wide promoter region TRs across 16 isolates of the filamentous fungus Aspergillus flavus and its ecotype Aspergillus oryzae with expression levels of their downstream genes. We found that only 4.3% of relationships tested were significant; these findings were consistent with models in which TRs act as "tuning," "volume," or "optimality" "knobs" of phenotype but not with "switch" models. Furthermore, the promoter regions of differentially expressed genes between A. oryzae and A. flavus did not show TR enrichment, suggesting that genome-wide differences in molecular phenotype between the two species are not significantly associated with TRs. Although in some cases TR polymorphisms do contribute to transcript abundance variation, these results argue that at least in this case, TRs might not be major modulators of variation in phenotype.
authors.affiliation: Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee 37235, USA.
authors.forename: Martha H
authors.initials: MH
authors.lastname: Elmore
authors.forename: John G
authors.initials: JG
authors.lastname: Gibbons
authors.forename: Antonis
authors.initials: A
authors.lastname: Rokas
mesh_terms: D001231:Aspergillus flavus / Q000235:genetics*; D001236:Aspergillus oryzae / Q000235:genetics*; D015870:Gene Expression; D014644:Genetic Variation; D016681:Genome, Fungal; D005838:Genotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020080:Tandem Repeat Sequences / Q000235:genetics*
keywords: RNA-Seq; genotype−phenotype map; molecular phenotype; tandem repeat copy number polymorphism