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Science. 2009 Feb 20;323(5917):1060-3. doi: 10.1126/science.1164014. Epub 2009 Jan 15.

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

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1
Department of Molecular Biology, Max Planck Institute for Developmental Biology, D-72076 Tübingen, Germany.

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.

PMID:
19150812
DOI:
10.1126/science.1164014
[Indexed for MEDLINE]
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