0000000000022038
AUTHOR
Sonia Mayo De Andrés
Búsqueda e identificación de nuevas causas genéticas o epigenéticas de trastornos del neurodesarrollo
Los trastornos del neurodesarrollo engloban desordenes cognitivos, de aprendizaje, comportamiento, comunicación y motores, que aparecen en edad temprana, como la discapacidad intelectual (DI) o los trastornos del espectro autista (TEA). Se trata de patologías complejas, debidas a alteraciones en el desarrollo del sistema nervioso central (SNC), que pueden presentan agregación familiar o asociarse a otras anomalías congénitas o rasgos dismórficos. Pese a que la causa de este tipo de trastornos en muchos casos es desconocida, existen claras evidencias sobre sus bases genéticas, con un gran número de síndromes descritos que cursan con DI asociados a diversas variantes en número de copias (CNVs…
Modulation of copper deficiency responses by diurnal and circadian rhythms in Arabidopsis thaliana
Highlight Cyclic expression of copper transport and the responses to copper deficiency are integrated into the light and circadian–oscillator signalling in plants.
Daily rhythmicity of high affinity copper transport
A differential demand for copper (Cu) of essential cupro-proteins that act within the mitochondrial and chloroplastal electronic transport chains occurs along the daily light/dark cycles. This requires a fine-tuned spatiotemporal regulation of Cu delivery, becoming especially relevant under non-optimal growth conditions. When scarce, Cu is imported through plasma membrane-bound high affinity Cu transporters (COPTs) whose coding genes are transcriptionally induced by the SPL7 transcription factor. Temporal homeostatic mechanisms are evidenced by the presence of multiple light- and clock-responsive regulatory cis elements in the promoters of both SPL7 and its COPT targets. A model is presente…
Comparison of global responses to mild deficiency and excess copper levels in Arabidopsis seedlings
[EN] Copper is an essential micronutrient in higher plants, but it is toxic in excess. The fine adjustments required to fit copper nutritional demands for optimal growth are illustrated by the diverse, severe symptoms resulting from copper deficiency and excess. Here, a differential transcriptomic analysis was done between Arabidopsis thaliana plants suffering from mild copper deficiency and those with a slight copper excess. The effects on the genes encoding cuproproteins or copper homeostasis factors were included in a CuAt database, which was organised to collect additional information and connections to other databases. The categories overrepresented under copper deficiency and copper e…