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A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana

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Sureshkumar,  S
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Todesco,  M
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Schneeberger,  K
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Harilal,  R
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Balasubramaniam,  S
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Weigel,  D       
Department Molecular Biology, Max Planck Institute for Developmental Biology, Max Planck Society;

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Citation

Sureshkumar, S., Todesco, M., Schneeberger, K., Harilal, R., Balasubramaniam, S., & Weigel, D. (2009). A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. Science, 323(5917), 1060-1063. doi:10.1126/science.1164014.


Cite as: https://hdl.handle.net/21.11116/0000-000B-0E56-6
Abstract
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.