Title |
A Genetic Defect Caused by a Triplet Repeat Expansion in Arabidopsis thaliana
|
---|---|
Published in |
Science, January 2009
|
DOI | 10.1126/science.1164014 |
Pubmed ID | |
Authors |
Sridevi Sureshkumar, Marco Todesco, Korbinian Schneeberger, Ramya Harilal, Sureshkumar Balasubramanian, Detlef Weigel |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 3 | 2% |
Germany | 2 | 2% |
United Kingdom | 2 | 2% |
Norway | 2 | 2% |
Austria | 1 | <1% |
Sweden | 1 | <1% |
France | 1 | <1% |
Israel | 1 | <1% |
Canada | 1 | <1% |
Other | 2 | 2% |
Unknown | 107 | 87% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 45 | 37% |
Student > Ph. D. Student | 20 | 16% |
Student > Master | 11 | 9% |
Professor | 10 | 8% |
Student > Doctoral Student | 7 | 6% |
Other | 19 | 15% |
Unknown | 11 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 80 | 65% |
Biochemistry, Genetics and Molecular Biology | 19 | 15% |
Computer Science | 4 | 3% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
Medicine and Dentistry | 2 | 2% |
Other | 4 | 3% |
Unknown | 12 | 10% |