GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001229
Main curator
Arnoult
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Arabidopsis thaliana- Pf-0
Trait State in Taxon B
Arabidopsis thaliana-Bur-0
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
thale cress
Synonyms
thale cress; mouse-ear cress; thale-cress; Arabidopsis thaliana (L.) Heynh.; Arabidopsis thaliana (thale cress); Arabidopsis_thaliana; Arbisopsis thaliana; thale kress
Rank
species
Lineage
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; Embryophyta; Tracheophyta; Euphyllophyta; Spermatophyta; Magnoliophyta; Mesangiospermae; eudicotyledons; Gunneridae; Pentapetalae; rosids; malvids; Brassicales; Brassicaceae; Camelineae; Arabidopsis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Arabidopsis thaliana- Pf-0
Taxon B
Latin Name
Common Name
thale cress
Synonyms
thale cress; mouse-ear cress; thale-cress; Arabidopsis thaliana (L.) Heynh.; Arabidopsis thaliana (thale cress); Arabidopsis_thaliana; Arbisopsis thaliana; thale kress
Rank
species
Lineage
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; Embryophyta; Tracheophyta; Euphyllophyta; Spermatophyta; Magnoliophyta; Mesangiospermae; eudicotyledons; Gunneridae; Pentapetalae; rosids; malvids; Brassicales; Brassicaceae; Camelineae; Arabidopsis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Arabidopsis thaliana-Bur-0
GENOTYPIC CHANGE
Generic Gene Name
IIL1
Synonyms
ATLEUC1; isopropyl malate isomerase large subunit 1; T9E8.170; T9E8_170; At4g13430
String
Sequence Similarities
Belongs to the aconitase/IPM isomerase family.
GO - Molecular Function
GO:0046872 : metal ion binding
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GO - Biological Process
GO:0019761 : glucosinolate biosynthetic process
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GO - Cellular Component
GO:0009507 : chloroplast
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Presumptive Null
Molecular Type
Aberration Type
Insertion Size
-
Molecular Details of the Mutation
expansion of a GAA/TTC trinucleotide repeat in the third intron
Experimental Evidence
Main Reference
Authors
Sureshkumar S; Todesco M; Schneeberger K; Harilal R; Balasubramanian S; Weigel D
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.
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Pleiotropy - triplet expansion causes IIL transcript decrease ; growth defect dependent on high temperature or high UV-B; Two genetic modifiers detected by QTL in 27630650
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