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

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

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53 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1060 - 1063
Number of pages4
JournalScience
Volume323
Issue number5917
DOIs
Publication statusPublished - 2009
Externally publishedYes

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