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Originally published in Science Express on 15 January 2009
Science 20 February 2009:
Vol. 323. no. 5917, pp. 1060 - 1063
DOI: 10.1126/science.1164014
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Reports

A Genetic Defect Caused by a Triplet Repeat Expansion in Arabidopsis thaliana

Sridevi Sureshkumar,1,2* Marco Todesco,1* Korbinian Schneeberger,1 Ramya Harilal,1 Sureshkumar Balasubramanian,1,2{dagger} Detlef Weigel1{dagger}

Variation in the length of simple DNA triplet repeats has been linked to phenotypic variability in microbes and to several human disorders. Population-level forces driving triplet repeat contraction and expansion in multicellular organisms are, however, not well understood. We have identified a triplet repeat–associated genetic defect in an Arabidopsis thaliana variety collected from the wild. The Bur-0 strain carries a dramatically expanded TTC/GAA repeat in the intron of the ISOPROPYL MALATE ISOMERASE LARGE SUB UNIT1 (IIL1; At4g13430) gene. The repeat expansion causes an environment-dependent reduction in IIL1 activity and severely impairs growth of this strain, whereas contraction of the expanded repeat can reverse the detrimental phenotype. The Bur-0 IIL1 defect thus presents a genetically tractable model for triplet repeat expansions and their variability in natural populations.

1 Department of Molecular Biology, Max Planck Institute for Developmental Biology, D-72076 Tübingen, Germany.
2 School of Biological Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia.

* These authors contributed equally to the work.

{dagger} To whom correspondence should be addressed. E-mail: mb.suresh{at}uq.edu.au (S.B.), weigel{at}weigelworld.org (D.W.)

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
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