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dc.contributor.authorTabib, Amanda
dc.contributor.authorVishwanathan, Sailaja
dc.contributor.authorSeleznev, Andrei
dc.contributor.authorMcKeown, Peter C.
dc.contributor.authorDowning, Tim
dc.contributor.authorDent, Craig
dc.contributor.authorSanchez-Bermejo, Eduardo
dc.contributor.authorColling, Luana
dc.contributor.authorSpillane, Charles
dc.contributor.authorBalasubramanian, Sureshkumar
dc.date.accessioned2018-09-20T16:26:14Z
dc.date.available2018-09-20T16:26:14Z
dc.date.issued2016-08-31
dc.identifier.citationTabib, Amanda; Vishwanathan, Sailaja; Seleznev, Andrei; McKeown, Peter C. Downing, Tim; Dent, Craig; Sanchez-Bermejo, Eduardo; Colling, Luana; Spillane, Charles; Balasubramanian, Sureshkumar (2016). A polynucleotide repeat expansion causing temperature-sensitivity persists in wild irish accessions of arabidopsis thaliana. Frontiers in Plant Science 7 ,
dc.identifier.issn1664-462X
dc.identifier.urihttp://hdl.handle.net/10379/14107
dc.description.abstractTriplet repeat expansions underlie several human genetic diseases such as Huntington's disease and Friedreich's ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the al locus in the Bur-0 accession of the model plant Arabidopsis thaliana, The IlL1 triplet expansion is an example of cryptic genetic variation as its phenotypic effects are seen only under genetic or environmental perturbation, with high temperatures resulting in a growth defect. Here we demonstrate that the IlL1 triplet expansion associated growth defect is not a general stress response and is specific to particular environmental perturbations. We also confirm and map genetic modifiers that suppress the effect of IlL1 triplet repeat expansion. By collecting and analyzing accessions from the island of Ireland, we recover the repeat expansion in wild populations suggesting that the repeat expansion has persisted at least 60 years in Ireland. Through genome-wide genotyping, we show that the repeat expansion is present in diverse Irish populations. Our findings indicate that even deleterious alleles can persist in populations if their effect is conditional. Our study demonstrates that analysis of groups of wild populations is a powerful tool for understanding the dynamics of cryptic genetic variation.
dc.publisherFrontiers Media SA
dc.relation.ispartofFrontiers in Plant Science
dc.subjecttriplet expansion
dc.subjectcryptic genetic variation
dc.subjectnatural variation
dc.subjectambient temperature
dc.subjectqtl analysis
dc.subjectgenetic modifier
dc.subjectpolynucleotide repeat
dc.subjectcryptic genetic-variation
dc.subjectuv-b radiation
dc.subjectnatural variation
dc.subjecttandem repeats
dc.subjectstress responses
dc.subjectflowering time
dc.subjecthigher-plants
dc.subjectpolymorphism
dc.subjectindividuals
dc.subjectpopulations
dc.titleA polynucleotide repeat expansion causing temperature-sensitivity persists in wild irish accessions of arabidopsis thaliana
dc.typeArticle
dc.identifier.doi10.3389/fpls.2016.01311
dc.local.publishedsourcehttp://journal.frontiersin.org/article/10.3389/fpls.2016.01311/pdf
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