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• W2056927191 abstract "Studying the genetic regulation of expression variation is a key method to dissect complex phenotypic traits. To examine the genetic architecture of regulatory variation in Arabidopsis thaliana, we performed genome-wide association (GWA) mapping of gene expression in an F(1) hybrid diversity panel. At a genome-wide false discovery rate (FDR) of 0.2, an associated single nucleotide polymorphism (SNP) explains >38% of trait variation. In comparison with SNPs that are distant from the genes to which they were associated, locally associated SNPs are preferentially found in regions with extended linkage disequilibrium (LD) and have distinct population frequencies of the derived alleles (where Arabidopsis lyrata has the ancestral allele), suggesting that different selective forces are acting. Locally associated SNPs tend to have additive inheritance, whereas distantly associated SNPs are primarily dominant. In contrast to results from mapping of expression quantitative trait loci (eQTL) in linkage studies, we observe extensive allelic heterogeneity for local regulatory loci in our diversity panel. By association mapping of allele-specific expression (ASE), we detect a significant enrichment for cis-acting variation in local regulatory variation. In addition to gene expression variation, association mapping of splicing variation reveals both local and distant genetic regulation for intron and exon level traits. Finally, we identify candidate genes for 59 diverse phenotypic traits that were mapped to eQTL." @default.
• W2056927191 created "2016-06-24" @default.
• W2056927191 creator A5068485355 @default.
• W2056927191 creator A5073568638 @default.
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• W2056927191 date "2011-04-05" @default.
• W2056927191 modified "2023-10-06" @default.
• W2056927191 title "Genetic architecture of regulatory variation in <i>Arabidopsis thaliana</i>" @default.
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• W2056927191 doi "https://doi.org/10.1101/gr.115337.110" @default.
• W2056927191 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3083089" @default.
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