GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000677
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Arabidopsis thaliana- Col0
Trait State in Taxon B
Arabidopsis thaliana- Ler0
Ancestral State
Taxon A
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- Col0
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
Show more ...
; 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- Ler0
GENOTYPIC CHANGE
Generic Gene Name
MOT1
Synonyms
F3N11.13; F3N11_13; molybdate transporter 1; ST5.2; SULTR5.2; At2g25680
String
Sequence Similarities
Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
GO - Molecular Function
GO - Biological Process
GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
Insertion Size
100-999 bp
Molecular Details of the Mutation
330bp duplication followed by minor indels
Experimental Evidence
Authors
Forsberg SK; Andreatta ME; Huang XY; Danku J; Salt DE; Carlborg Ö
Abstract
Genome-wide association (GWA) analyses have generally been used to detect individual loci contributing to the phenotypic diversity in a population by the effects of these loci on the trait mean. More rarely, loci have also been detected based on variance differences between genotypes. Several hypotheses have been proposed to explain the possible genetic mechanisms leading to such variance signals. However, little is known about what causes these signals, or whether this genetic variance-heterogeneity reflects mechanisms of importance in natural populations. Previously, we identified a variance-heterogeneity GWA (vGWA) signal for leaf molybdenum concentrations in Arabidopsis thaliana. Here, fine-mapping of this association reveals that the vGWA emerges from the effects of three independent genetic polymorphisms that all are in strong LD with the markers displaying the genetic variance-heterogeneity. By revealing the genetic architecture underlying this vGWA signal, we uncovered the molecular source of a significant amount of hidden additive genetic variation or "missing heritability". Two of the three polymorphisms underlying the genetic variance-heterogeneity are promoter variants for Molybdate transporter 1 (MOT1), and the third a variant located ~25 kb downstream of this gene. A fourth independent association was also detected ~600 kb upstream of MOT1. Use of a T-DNA knockout allele highlights Copper Transporter 6; COPT6 (AT2G26975) as a strong candidate gene for this association. Our results show that an extended LD across a complex locus including multiple functional alleles can lead to a variance-heterogeneity between genotypes in natural populations. Further, they provide novel insights into the genetic regulation of ion homeostasis in A. thaliana, and empirically confirm that variance-heterogeneity based GWA methods are a valuable tool to detect novel associations of biological importance in natural populations.
Additional References
RELATED GEPHE
Related Haplotypes
EXTERNAL LINKS
COMMENTS
Genetic heterogeneity; Complex locus with additional loci with multiple alleles; two promoter variants + 1 25kb downstream + LD with other site 600kb away with putative role of Copper Transporter 6 (COPT6)
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