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1.
Philos Trans R Soc Lond B Biol Sci ; 377(1855): 20200512, 2022 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-35634919

RESUMO

A paradoxical finding from genome-wide association studies (GWAS) in plants is that variation in metabolite profiles typically maps to a small number of loci, despite the complexity of underlying biosynthetic pathways. This discrepancy may partially arise from limitations presented by geographically diverse mapping panels. Properties of metabolic pathways that impede GWAS by diluting the additive effect of a causal variant, such as allelic and genetic heterogeneity and epistasis, would be expected to increase in severity with the geographical range of the mapping panel. We hypothesized that a population from a single locality would reveal an expanded set of associated loci. We tested this in a French Arabidopsis thaliana population (less than 1 km transect) by profiling and conducting GWAS for glucosinolates, a suite of defensive metabolites that have been studied in depth through functional and genetic mapping approaches. For two distinct classes of glucosinolates, we discovered more associations at biosynthetic loci than the previous GWAS with continental-scale mapping panels. Candidate genes underlying novel associations were supported by concordance between their observed effects in the TOU-A population and previous functional genetic and biochemical characterization. Local populations complement geographically diverse mapping panels to reveal a more complete genetic architecture for metabolic traits. This article is part of the theme issue 'Genetic basis of adaptation and speciation: from loci to causative mutations'.


Assuntos
Arabidopsis , Arabidopsis/genética , Arabidopsis/metabolismo , Variação Genética , Estudo de Associação Genômica Ampla , Glucosinolatos/metabolismo , Locos de Características Quantitativas
2.
Front Cell Dev Biol ; 10: 880441, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35465309

RESUMO

The voltage-gated calcium channels (CaVs or VGCCs) are fundamental regulators of intracellular calcium homeostasis. When electrical activity induces their activation, the influx of calcium that they mediate or their interaction with intracellular players leads to changes in intracellular Ca2+ levels which regulate many processes such as contraction, secretion and gene expression, depending on the cell type. The essential component of the pore channel is the CaVα1 subunit. However, the fine-tuning of Ca2+-dependent signals is guaranteed by the modulatory role of the auxiliary subunits ß, α2δ, and γ of the CaVs. In particular, four different CaVß proteins (CaVß1, CaVß2, CaVß3, and CaVß4) are encoded by four different genes in mammalians, each of them displaying several splice variants. Some of these isoforms have been described in regulating CaVα1 docking and stability at the membrane and controlling the channel complex's conformational changes. In addition, emerging evidences have highlighted other properties of the CaVß subunits, independently of α1 and non-correlated to its channel or voltage sensing functions. This review summarizes the recent findings reporting novel roles of the auxiliary CaVß subunits and in particular their direct or indirect implication in regulating gene expression in different cellular contexts.

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