title: The conserved PFT1 tandem repeat is crucial for proper flowering in Arabidopsis thaliana.
abstract: It is widely appreciated that short tandem repeat (STR) variation underlies substantial phenotypic variation in organisms. Some propose that the high mutation rates of STRs in functional genomic regions facilitate evolutionary adaptation. Despite their high mutation rate, some STRs show little to no variation in populations. One such STR occurs in the Arabidopsis thaliana gene PFT1 (MED25), where it encodes an interrupted polyglutamine tract. Although the PFT1 STR is large (∼270 bp), and thus expected to be extremely variable, it shows only minuscule variation across A. thaliana strains. We hypothesized that the PFT1 STR is under selective constraint, due to previously undescribed roles in PFT1 function. We investigated this hypothesis using plants expressing transgenic PFT1 constructs with either an endogenous STR or synthetic STRs of varying length. Transgenic plants carrying the endogenous PFT1 STR generally performed best in complementing a pft1 null mutant across adult PFT1-dependent traits. In stark contrast, transgenic plants carrying a PFT1 transgene lacking the STR phenocopied a pft1 loss-of-function mutant for flowering time phenotypes and were generally hypomorphic for other traits, establishing the functional importance of this domain. Transgenic plants carrying various synthetic constructs occupied the phenotypic space between wild-type and pft1 loss-of-function mutants. By varying PFT1 STR length, we discovered that PFT1 can act as either an activator or repressor of flowering in a photoperiod-dependent manner. We conclude that the PFT1 STR is constrained to its approximate wild-type length by its various functional requirements. Our study implies that there is strong selection on STRs not only to generate allelic diversity, but also to maintain certain lengths pursuant to optimal molecular function.
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195.
authors.forename: Pauline
authors.initials: P
authors.lastname: Rival
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195.
authors.forename: Maximilian O
authors.initials: MO
authors.lastname: Press
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195 Molecular and Cellular Biology, University of Washington, Seattle, Washington 98195 Department of Biochemistry, University of Washington, Seattle, Washington 98195.
authors.forename: Jacob
authors.initials: J
authors.lastname: Bale
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195.
authors.forename: Tanya
authors.initials: T
authors.lastname: Grancharova
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195 soledad.undurraga@umayor.cl queitsch@uw.edu.
authors.forename: Soledad F
authors.initials: SF
authors.lastname: Undurraga
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington 98195 soledad.undurraga@umayor.cl queitsch@uw.edu.
authors.forename: Christine
authors.initials: C
authors.lastname: Queitsch
mesh_terms: D000483:Alleles; D017360:Arabidopsis / Q000235:genetics* / Q000254:growth & development; D029681:Arabidopsis Proteins / Q000235:genetics*; D017124:Conserved Sequence; D004268:DNA-Binding Proteins; D035264:Flowers / Q000235:genetics* / Q000254:growth & development; D018506:Gene Expression Regulation, Plant; D017343:Genes, Plant; D056726:Genetic Association Studies; D018895:Microsatellite Repeats; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D029681:Arabidopsis Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C475686:PFT1 protein, Arabidopsis
keywords: MED25; PFT1; flowering; microsatellite; short tandem repeat