Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder. We searched for variants in 31 genes linked to GPI-anchor biogenesis and detected rare biallelic variants in PGAP3, PIGN, PIGT (n=2), PIGO and PIGL, providing a likely diagnosis for six families. In five families, the variants were in a compound heterozygous configuration while in a consanguineous Afghani kindred, a homozygous c.709G>C; p.(E237Q) variant in PIGT was identified within 10-12 Mb of autozygosity. Validation and segregation analysis was performed using Sanger sequencing. Across the six families, five siblings were available for testing and in all cases variants co-segregated consistent with them being causative. In four families, abnormal alkaline phosphatase results were observed in the direction expected. FACS analysis of knockout HEK293 cells that had been transfected with wild-type or mutant cDNA constructs demonstrated that the variants in PIGN, PIGT and PIGO all led to reduced activity. Splicing assays, performed using leucocyte RNA, showed that a c.336-2A>G variant in PIGL resulted in exon skipping and p.D113fs*2. Our results strengthen recently reported disease associations, suggest that defective GPI-anchor biogenesis may explain ~0.15% of individuals with developmental disorders and highlight the benefits of data sharing

The simulated effects of iron dust and acidity during the early stages of establishment of two coastal plant species

In Brazil’s littoral, many iron ore industries are located in areas of restinga, a type of coastal ecosystem; such industries represent stationary sources of iron and acid particulates. The industrial sector is under expansion, threatening the already fragile ecosystem. In the present study, the simulated impact of these emissions was studied on the early establishment stages of two native plant species, Sophora tomentosa and Schinus terebinthifolius. The results indicate that S. tomentosa display deficient germination and low root tolerance when exposed to iron dust and acidity. Toxic iron concentrations were found to accumulate only in the roots of S. tomentosa plants exposed to increasing doses of iron dust. In these plants, initial growth was reduced, leading to the conclusion that S. tomentosa was unable to regulate, and, thus, to overcome, the effects of the iron dust in the substrate. In contrast, the germination, root tolerance index, and initial growth of S. terebinthifolius were not affected by iron dust and acidity, revealing the species’ resistance to these pollutants. We propose that under similar field conditions, S. tomentosa would be adversely affected, whereas S. terebinthifolius would thrive. On a long-term basis, this imbalance is likely to interfere in the vegetational composition and dynamics of the affected ecosystem

Fluorescence imaging of light acclimation of brazilian atlantic forest tree species

In the pursuit of knowledge on the biological behavior of Brazilian Atlantic Forest tree species, this study evaluated the susceptibility of the light-demanding species, Schinus terebinthifolia Raddi., Pseudobombax grandiflorum (Cav.) A. Robyns and Joannesia princeps Vell., and of the shade-tolerant species, Hymenaea courbaril L. var. stilbocarpa and Lecythis pisonis Camb, to photoinhibition and acclimation capacity. These species were first cultivated under two irradiance conditions, I20 (20% direct sunlight radiation) and I100 (all-sky or direct sunlight) and then transferred from I20 to I100. The effects of the sudden increase in light radiation intensity on photosynthetic activity were then evaluated through chlorophyll (Chl) fluorescence imaging, HPLC xanthophylls analysis, and cell membrane lipid peroxidation measurements. Light-demanding species were found to present a higher photochemical efficiency and higher acclimation capacity under high light irradiance than shade-tolerant species. The higher photoinhibition tolerance observed in light-demanding species was associated to their higher capacity for photochemical dissipation and dissipation of excess excitation energy via the xanthophyll cycle, leading to a lower ROS generation. The obtained results suggested that a knowledge of acclimation capacity, by means of Chl fluorescence imaging yields, is a useful indicator of species successional grouping

Anatomical, morphological, and physiological responses of two sugarcane genotypes of contrasting susceptibility to Mahanarva fimbriolata (Hemiptera: Cercopidae)

The purpose of this study was to investigate and compare root morpho-anatomical traits and physiological responses of susceptible (SP81–3250) and resistant (H. Kawandang) sugarcane genotypes exposed to the attack by nymphs of spittlebug Mahanarva fimbriolata (Stål) (Hemiptera: Cercopidae). Two experiments were conducted to compare the damage caused by spittlebug nymphs on fresh and dry biomass weight; lignin content in stalks; root anatomy; chlorophyll content; photosynthetic rate (A); carboxylation efficiency (A/Ci); stomatal conductance (gS) and transpiration rate (E) of these genotypes. SP81–3250 consistently obtained significantly higher damage scores than H. Kawandang in both experiments, confirming the previously observed level of resistance in each genotype. Attack by spittlebug nymphs had a much higher effect on both fresh and dry biomass weight, chlorophyll content, A, A/Ci, gs and E of SP81–3250, than that on H. Kawandang. Anatomical studies indicated the presence of aerenchyma tissue in the root cortex of SP81–3250, a feature which may facilitate penetration of the nymph's stylet into the vascular cylinder. In contrast, roots of H. Kawandang are characterized by having more dense and compact parenchyma cells. In addition, infested plants of this genotype contained an unidentified mucilaginous compound in the vascular cylinder of the roots. We conclude that resistance of H. Kawandang to spittlebug is related to the ability of this genotype to maintain normal chlorophyll content, as well as stomatal conductance and photosynthesis, thus, allowing for biomass accumulation under spittlebug attack, in contrast to SP81–3250. In addition, the presence of more compact and denser parenchymal cells, as well as that of an induced mucilaginous compound in the root's vascular cylinder, are likely to hinder host-feeding activity in nymphs, causing higher nymph mortality and therefore, reduced damage in plants of this genotype