20 research outputs found
Transcriptional integration of paternal and maternal factors in the Arabidopsis zygote
In many plants, the asymmetric division of the zygote sets up the apical-basal axis of the embryo. Unlike animals, plant zygotes are transcriptionally active, implying that plants have evolved specific mechanisms to control transcriptional activation of patterning genes in the zygote. In Arabidopsis, two pathways have been found to regulate zygote asymmetry: YODA (YDA) mitogen-activated protein kinase (MAPK) signaling, which is potentiated by sperm-delivered mRNA of the SHORT SUSPENSOR (SSP) membrane protein, and up-regulation of the patterning gene WOX8 by the WRKY2 transcription factor. How SSP/YDA signaling is transduced into the nucleus and how these pathways are integrated have remained elusive. Here we show that paternal SSP/YDA signaling directly phosphorylates WRKY2, which in turn leads to the up-regulation of WOX8 transcription in the zygote. We further discovered the transcription factors HOMEODOMAIN GLABROUS11/12 (HDG11/12) as maternal regulators of zygote asymmetry that also directly regulate WOX8 transcription. Our results reveal a framework of how maternal and paternal factors are integrated in the zygote to regulate embryo patterning
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families.
We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands. Subsequently, Sanger sequencing of BGN in 360 male and 155 female molecularly unexplained TAAD probands was performed.
We found five individuals with loss-of-function mutations in BGN encoding the small leucine-rich proteoglycan biglycan. The clinical phenotype is characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia. Fluorescent staining revealed an increase in TGF-β signaling, evidenced by an increase in nuclear pSMAD2 in the aortic wall. Our results are in line with those of prior reports demonstrating that Bgn-deficient male BALB/cA mice die from aortic rupture.
In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD that is associated with preservation of elastic fibers and increased TGF-β signaling.Genet Med 19 4, 386-395
Executive control of attention in sleep apnea patients: theoretical concepts and methodological considerations
Electrophysiological time course and brain areas of spontaneous and intentional trait inferences
This study measured event-related potentials during spontaneous and intentional trait inferences. Participants read sentences describing the behavior of a target person from which a strong moral trait could be inferred. The last word of each sentence determined the consistency with the trait induced during an introductory paragraph. In comparison with behaviors that were consistent with the implied trait, a P300 waveform was obtained when the behaviors were evaluative inconsistent with that trait. This dependency on behavioral consistency indicates that trait inferences were made previously while reading the preceding behaviors, irrespective of the participants’ spontaneous or intentional goals. Overall, the P300 shows considerable parallels between spontaneous and intentional inferences, indicating that the type and timing of the inconsistency process is very similar. In contrast, source localization (LORETA) of the event-related potentials suggest that spontaneous inferences show greater activation in the temporo-parietal junction compared to intentional inferences following an inconsistency. Memory measures taken after the presentation of the stimulus material involved sentence completion and trait-cued recall, and supported the occurrence of trait inferences associated with the actor. They also showed significant correlations with the neural components (i.e. P300 and its current density at the temporo-parietal junction) predominantly following spontaneous instructions, indicating that these components are valid neural indices of spontaneous inferences