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Published Online January 15, 2009
Science DOI: 10.1126/science.1164014

Reports

Submitted on July 31, 2008
Accepted on December 11, 2008

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

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

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

* To whom correspondence should be addressed.
Sureshkumar Balasubramanian , E-mail: mb.suresh{at}uq.edu.au
Detlef Weigel , E-mail: weigel{at}weigelworld.org

{dagger}These authors contributed equally to this work.

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, while 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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
What Has Natural Variation Taught Us about Plant Development, Physiology, and Adaptation?.
C. Alonso-Blanco, M. G.M. Aarts, L. Bentsink, J. J.B. Keurentjes, M. Reymond, D. Vreugdenhil, and M. Koornneef (2009)
PLANT CELL 21, 1877-1896
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Science. ISSN 0036-8075 (print), 1095-9203 (online)