期刊
SCIENCE
卷 323, 期 5917, 页码 1060-1063出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1164014
关键词
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资金
- EMBO (European Molecular Biology Organization) Long-Term Fellowship
- Marie Curie Research Training Network SY-STEM
- European Research Area-Plant Genomics (ERA-PG) Deutsche Forschungsgemeinschaft ARelatives Consortium
- European Union Sixth Framework Programme for Research and Technological Development Integrated Project [EU FP6 IP, LSHG-CT-2006-037704]
- Leibniz Award
- Max Planck Society
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.
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