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

Sridevi Sureshkumar, Marco Todesco, Korbinian Schneeberger, Ramya Harilal, Sureshkumar Balasubramanian, Detlef Weigel

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

Science (New York, N.Y.) 2009 Feb 20

filter terms:

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.

Citation

Sridevi Sureshkumar, Marco Todesco, Korbinian Schneeberger, Ramya Harilal, Sureshkumar Balasubramanian, Detlef Weigel. A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. Science (New York, N.Y.). 2009 Feb 20;323(5917):1060-3