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          Institute: MPI für Entwicklungsbiologie     Collection: Abteilung 6 - Molecular Biology (D. Weigel)     Display Documents



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ID: 460657.0, MPI für Entwicklungsbiologie / Abteilung 6 - Molecular Biology (D. Weigel)
A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana
Authors:Sureshkumar, S.; Todesco, M.; Schneeberger, K.; Harilal, R.; Balasubramanian, S.; Weigel, D.
Date of Publication (YYYY-MM-DD):2009-02-20
Title of Journal:Science
Volume:323
Issue / Number:5917
Start Page:1060
End Page:1063
Review Status:not specified
Audience:Not Specified
Abstract / Description: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.
Free Keywords:Alleles; Arabidopsis/*genetics/growth & development/metabolism; Arabidopsis Proteins/*genetics/metabolism; Genes, Plant; Genetic Variation; *Introns; Isomerases/*genetics/metabolism; Molecular Sequence Data; Phenotype; Plant Leaves/growth & development; RNA, Plant/genetics/metabolism; Temperature; *Trinucleotide Repeat Expansion; Trinucleotide Repeats
External Publication Status:published
Document Type:Article
Affiliations:MPI für Entwicklungsbiologie/Abteilung 6 - Molekulare Biologie (Detlef Weigel)
External Affiliations:%G eng
Identifiers:ISSN:1095-9203 (Electronic) 1095-9203 (Linking) %R 1164... [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=... [ID No:2]
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