| Autor: |
Sureshkumar S; Department of Molecular Biology, Max Planck Institute for Developmental Biology, D-72076 Tübingen, Germany., Todesco M, Schneeberger K, Harilal R, Balasubramanian S, Weigel D |
| Jazyk: |
angličtina |
| Zdroj: |
Science (New York, N.Y.) [Science] 2009 Feb 20; Vol. 323 (5917), pp. 1060-3. Date of Electronic Publication: 2009 Jan 15. |
| DOI: |
10.1126/science.1164014 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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