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A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of arabidopsis thaliana

Tabib, Amanda and Sailaja, Vishwanathan and Seleznev, Andrei and McKeown, Peter C. and Downing, Tim and Dent, Craig and Sanchez-Bermejo, Eduardo and Colling, Luana and Spillane, Charles and Balasubramanian, Sureshkumar (2016) A polynucleotide repeat expansion causing temperature-sensitivity persists in wild Irish accessions of arabidopsis thaliana. Frontiers in Plant Science, 7 (1344). ISSN 1664-462X

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Triplet 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 IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 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 IIL1 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 IIL1 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.

Item Type:Article (Published)
Uncontrolled Keywords:ripletexpansion; crypticgeneticvariation; naturalvariation; ambienttemperature;QTLanalysis; geneticmodifier; polynucleotiderepeat
Subjects:Biological Sciences > Biochemistry
DCU Faculties and Centres:UNSPECIFIED
Publisher:Frontiers Media
Official URL:
Copyright Information:Open access
Use License:This item is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 3.0 License. View License
ID Code:21645
Deposited On:19 Jan 2017 11:27 by Thomas Murtagh. Last Modified 19 Jan 2017 11:27

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