A Genetic Defect Caused by a Triplet Repeat Expansion in Arabidopsis thaliana

被引：73

作者：

Sureshkumar, Sridevi ^{[1
,2
]}

Todesco, Marco ^{[1
]}

Schneeberger, Korbinian ^{[1
]}

Harilal, Ramya ^{[1
]}

Balasubramanian, Sureshkumar ^{[1
,2
]}

Weigel, Detlef ^{[1
]}

机构：

[1] Max Planck Inst Dev Biol, Dept Mol Biol, D-72076 Tubingen, Germany

[2] Univ Queensland, Sch Biol Sci, Brisbane, Qld 4072, Australia

来源：

SCIENCE | 2009年 / 323卷 / 5917期

关键词：

FRIEDREICH ATAXIA; SOMATIC INSTABILITY; EPIGENETIC CHANGES; IN-VIVO; TRANSCRIPTION; SEQUENCE; MECHANISMS; DELETION; BRAIN;

D O I：

10.1126/science.1164014

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1060 / 1063

页数：4

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