Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. We report on two families segregating an autosomal recessive disorder characterized by generalized anhidrosis, severe heat intolerance and mild kidney failure. All affected individuals carry a rare homozygous missense mutation c.144C>G, p.(N48K) specific for the claudin-10b isoform. Immunostaining of sweat glands from patients suggested that the disease is associated with reduced levels of claudin-10b in the plasma membranes and in canaliculi of the secretory portion. Expression of claudin-10b N48K in a 3D cell model of sweat secretion indicated perturbed paracellular Na+ transport. Analysis of paracellular permeability revealed that claudin-10b N48K maintained cation over anion selectivity but with a reduced general ion conductance. Furthermore, freeze fracture electron microscopy showed that claudin-10b N48K was associated with impaired tight junction strand formation and altered cis-oligomer formation. These data suggest that claudin-10b N48K causes anhidrosis and our findings are consistent with a combined effect from perturbed TJ function and increased degradation of claudin-10b N48K in the sweat glands. Furthermore, affected individuals present with Mg2+ retention, secondary hyperparathyroidism and mild kidney failure that suggest a disturbed reabsorption of cations in the kidneys. These renal-derived features recapitulate several phenotypic aspects detected in mice with kidney specific loss of both claudin-10 isoforms. Our study adds to the spectrum of phenotypes caused by tight junction proteins and demonstrates a pivotal role for claudin-10b in maintaining paracellular Na+ permeability for sweat production and kidney function.

Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already been mapped. We recruited 35 MCPH families in Pakistan and could identify the genetic cause of the disease in 31 of them. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints. We also identified four known mutations - three in ASPM and one in WDR62. The latter was initially deemed to be a missense mutation but we demonstrate here that it affects splicing. As to ASPM, as many as 17 out of 27 MCPH5 families that we ascertained in our sample were found to carry the previously reported founder mutation p.Trp1326*. This study adds to the mutational spectra of four known MCPH-associated genes and updates our knowledge about the genetic heterogeneity of MCPH in the Pakistani population considering its ethnic diversity.

Several plant species such as grasses are dominant in many habitats including arid and semi-arid areas. These species survive in these regions by developing exclusive structures, which helps in the collection of atmospheric water. Before the collected water evaporates, these structures have unique canopy structure for water transportation that plays an equivalent share in the fog-harvesting mechanism. In this review, the atmospheric gaseous water harvesting mechanisms and their affinity of measurements were discussed. Morphological adaptations and their role in the capturing of atmospheric gaseous water of various species were also discussed. The key factor for the water collection and its conduction in the wheat plant is the information of contact angle hysteresis. In wheat, leaf rolling and its association with wetting property help the plant in water retention. Morphological adaptations, i.e., leaf erectness, grooves, and prickle hairs, also help in the collection and acquisition of water droplets by stem flows in directional guide toward the base of the plant and allow its rapid uptake. Morphological adaptation strengthens the harvesting mechanism by preventing the loss of water through shattering. Thus, wheat canopy architecture can be modified to harvest the atmospheric water and directional movement of water towards the root zone for self-irrigation. Moreover, these morphological adaptations are also linked with drought avoidance and corresponding physiological processes to resist water stress. The combination of these traits together with water use efficiency in wheat contributes to a highly efficient atmospheric water harvesting system that enables the wheat plants to reduce the cost of production. It also increases the yielding potential of the crop in arid and semi-arid environments. Further investigating the ecophysiology and molecular pathways of these morphological adaptations in wheat may have significant applications in varying climatic scenarios.

The success of a plant breeding program is linked with the rapid screening of crop germplasm. In the following study, the germination stage of rice seeds has been examined for the rapid screening of drought-tolerant genotypes. The rice genotypes (10 drought tolerant, 5 moderately drought tolerant, and 5 drought susceptible) were sown in Petri dishes under control and osmotic stress of 15% PEG6000. Data were recorded after four days of sowing for the osmotic stress-induced change in imbibition rate, speed of germination, radical and plumule length, radical and plumule total fresh and dry weight, proline contents, total antioxidant capacity, and malondialdehyde level in radical and plumule of seeds. Moreover, the change in expression of OsP5CS gene was also recorded in one of each drought tolerant, moderately drought tolerant, and drought susceptible genotypes. Under osmotic stress, the level of proline, total antioxidant capacity, and the expression of OsP5CS were increased in drought-tolerant genotypes as compared to moderately drought tolerant and drought susceptible genotypes. While, the change in imbibition rate, speed of germination, radical and plumule length, and fresh and dry weight were not symmetrical in drought tolerant, moderately drought tolerant, and drought susceptible genotypes. In short, the symmetrical change in proline, total antioxidant capacity, and expression of OsP5CS gene within radical and plumule of drought tolerant, moderately drought tolerant, and drought susceptible genotypes can help rapid screening of drought-tolerant rice genotypes.