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Santos, I. S.

Publications and source records attributed to Santos, I. S..

2 recordsLinked to original sources

The contrasting flowering-time among coffee genotypes is associated with ectopic and differential expressions of genes related to environment, floral development, and hormonal regulation

The molecular pathways underlying floral activation and development are well described in model species, but exhibit significant diversity in plants that is poorly understood in crops with complex cycles, such as Coffea arabica L. The reproductive development of coffee plants is biannual, and the flowering time is crucial for the coffee productivity and cup quality. In this study, we explored the plasticity of floral development and flowering-time of contrasting coffee genotypes to understand the associated metabolic and regulatory transcriptional profiles. Firstly, we compared the reproductive development of three coffee genotypes, confirming that Acaua is late flowering, Oeiras is early flowering, and the natural mutant Semperflorens (Sf) exhibits continuous flowering throughout the year. Analysis of sugar and ethylene content revealed quantitative differences between genotypes in both leaves and floral buds. To associate these phenotypic differences with the regulatory developmental pathways, we performed RNA-seq analysis comparing the shoot apical meristems, floral buds and leaves of different genotypes. Our analysis identified 12.478 differentially expressed genes, which showed enriched terms mainly related to hormonal regulation, external stimulus and floral development. Notably, some major players of reproductive development, as homologs of FLOWERING LOCUS T and MADS-box genes, showed contrasting expression patterns, generally being ectopically upregulated in the Sf mutant. These findings were associated with the phenotypic differences among coffee genotypes. In conclusion, the present study improves the understanding of the divergence of floral development in coffee, providing valuable insights for directing breeding programs and future studies aiming at controlling floral development and enhancing crop production.

plant biology↗

Genome-wide association of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) plasma levels in the ELSA-Brasil study

Pharmacological inhibition of PCSK9 (proprotein convertase subtilisin/kexin type 9) is an established therapeutic option to treat hypercholesterolemia and plasma PCSK9 levels have been implicated in cardiovascular disease incidence. A number of genetic variants within the PCSK9 gene locus have been shown to modulate PCSK9 levels, but these only explain a very small percentage of the overall PCSK9 interindividual variation. Here we present data on the genetic association structure between PCSK9 levels and genome-wide genetic variation in a healthy sample from the general population. We performed a genome-wide association study of plasma PCSK9 levels in a sample of Brazilian individuals enrolled in the ELSA-Brasil cohort (n=810). Enrolled individuals were free from cardiovascular disease, diabetes and were not under lipid-lowering medication. Genome-wide genotyping was conducted using the Axiom_PMRA.r3 array and imputation used the TOPMED multi-ancestry sample panel. Total PCSK9 plasma concentrations were determined using the Quantikine SPC900 ELISA kit. We observed two genome-wide significant loci and seven loci that reached the pre-defined p value threshold of 1 x 10-6. Significant variants were near KCNA5 and KCNA1, and LINC00353. Genetic variation at the PCSK9 locus was able to explain approximately 4% of the overall interindividual variation in PCSK9 levels. Colocalization analysis using eQTL data suggested RWDD3, ATXN7L1, KCNA1, and FAM177A1 to be potential mediators of some of the observed associations. Our results suggest that PCSK9 levels may be modulated by trans genetic variation outside of the PCSK9 gene and this may have clinical implications. Understanding both environmental and genetic predictors of PCSK9 levels may help identifying new targets for cardiovascular disease treatment and contribute to a better assessment of the benefits of long-term PCSK9 inhibition.

genetics↗