GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001036
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Arabidopsis thaliana- Bur-0
Trait State in Taxon B
Arabidopsis thaliana- Col-0
Ancestral State
Taxon A
Taxonomic Status
Taxon A
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 A an Infraspecies?
Yes
Taxon A Description
Arabidopsis thaliana- Bur-0
Taxon B
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- Col-0
GENOTYPIC CHANGE
Generic Gene Name
PDE327
Synonyms
PIGMENT DEFECTIVE 327; T10C21.70; T10C21_70; At4g30720
Sequence Similarities
-
GO - Molecular Function
-
UniProtKB
Arabidopsis thaliana
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
Premature stop codon at the SG3 locus in Bur-0 (a 1bp deletion in exon four of At4g30720 results in a frame shift; predicting a premature stop codon which terminates the ORF after 5 amino acids); but in this accession this gene has a functional copy at a
Experimental Evidence
Authors
Vlad D; Rappaport F; Simon M; Loudet O
Abstract
A major challenge in biology is to identify molecular polymorphisms responsible for variation in complex traits of evolutionary and agricultural interest. Using the advantages of Arabidopsis thaliana as a model species, we sought to identify new genes and genetic mechanisms underlying natural variation for shoot growth using quantitative genetic strategies. More quantitative trait loci (QTL) still need be resolved to draw a general picture as to how and where in the pathways adaptation is shaping natural variation and the type of molecular variation involved. Phenotypic variation for shoot growth in the Bur-0 x Col-0 recombinant inbred line set was decomposed into several QTLs. Nearly-isogenic lines generated from the residual heterozygosity segregating among lines revealed an even more complex picture, with major variation controlled by opposite linked loci and masked by the segregation bias due to the defective phenotype of SG3 (Shoot Growth-3), as well as epistasis with SG3i (SG3-interactor). Using principally a fine-mapping strategy, we have identified the underlying gene causing phenotypic variation at SG3: At4g30720 codes for a new chloroplast-located protein essential to ensure a correct electron flow through the photosynthetic chain and, hence, photosynthesis efficiency and normal growth. The SG3/SG3i interaction is the result of a structural polymorphism originating from the duplication of the gene followed by divergent paralogue's loss between parental accessions. Species-wide, our results illustrate the very dynamic rate of duplication/transposition, even over short periods of time, resulting in several divergent--but still functional-combinations of alleles fixed in different backgrounds. In predominantly selfing species like Arabidopsis, this variation remains hidden in wild populations but is potentially revealed when divergent individuals outcross. This work highlights the need for improved tools and algorithms to resolve structural variation polymorphisms using high-throughput sequencing, because it remains challenging to distinguish allelic from paralogous variation at this scale.
Additional References
COMMENTS
@Epistasis
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