Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the g-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterise this protein. We show that although the x ray crystallography modelling does not indicate any change of the backbone conformation, the mutation affects a region of the Greek key motif that is important for determining the topology of this protein fold. Our data suggest strongly that the proline to threonine substitution may alter the protein folding or decrease the thermodynamic stability or solubility of the protein. Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts

Dacryoadenite tuberculeuse bilatérale: à propos d’un cas

La dacryoadénite tuberculeuse est une inflammation rare de la glande  lacrymale causé par le bacille Mycobacterium tuberculosis. Elle pose unproblème étiopathogénique et diagnostique. Nous rapportons dans cette observation le cas d'une dacryoadénite tuberculeuse bilatérale chez unjeune homme Marocain de 34 ans ayant présenté une tuberculose  ganglionnaire et du cavum il y à 14 ans, ayant été confirmé par l'examenanatomopathologique. La tuberculose reste un diagnostic qui doit être  toujours évoqué même dans les atteinte bilatérale surtout si il y a unantécédent personnel ou familiale positif de tuberculose. Le pronostic de cette affection est devenu favorable grâce au traitement antibacillaire précoce

Book of Abstracts submitted to the IV Congress of Marine Sciences

The Canary Upwelling System (CUS), a major eastern boundary upwelling system, sustains large crossborder fisheries of small pelagic fish, which poses the question of stock connectivity. Studies suggest that ichthyoplankton transport from the northwest African coast to the Canary Islands (CI) is facilitated by coastal- upwelling associated filaments. Here we analyze connections between larval supply to the CI and sardine and anchovy populations that spawn over the continental shelf. For both species, ichthyoplankton observations (1) at the shelf and (2) near the island of Gran Canaria (GC) are used. Predictions of ichthyoplankton transport to GC are obtained from the Ichthyop Lagrangian transport model, which is forced by a high-resolution hydrodynamic model (ROMS) that reproduces the regional circulation. Results show that upwelling filaments play an important role in the transport of larvae to GC. However, (1) filaments are not the only mechanism, and (2) filament presence does not necessarily imply larval transport. Anchovy and sardine larval presence at GC appears to be independent of the respective adult spawning seasonality. Combining of observed and modeled data does not succeed in reproducing the observed larval patterns at GC. Various hypotheses are proposed to explain this discrepancy in larval transport to GC

Synthèse Océanographique 2014

This oceanographic synthesis focuses on the main results of the INRH's oceanographic surveys along the Atlantic and Mediterranean coast of Morocco and the follow-up resulting from the treatment of satellite products for the year 2014. The objective of this study is to establish a system of operational oceanographic observations and, ultimately, numerical simulations capable of continuously monitoring trends and hydroclimatic variations at the level of the two Atlantic and Mediterranean seaboards. This document is divided into three parts: The physical oceanography component, biological oceanography component and remote sensing space component

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in FAT1. We show that Fat1 knockout mice and zebrafish embryos homozygous for truncating fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent developmental defect observed in affected individuals. In human retinal pigment epithelium (RPE) cells, the primary site for the fusion of optic fissure margins, FAT1 is localized at earliest cell-cell junctions, consistent with a role in facilitating optic fissure fusion during vertebrate eye development. Our findings establish FAT1 as a gene with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorder whereas recessive missense mutations had been previously associated with isolated glomerulotubular nephropathy

Bacteria-inducing legume nodules involved in the improvement of plant growth, health and nutrition

Bacteria-inducing legume nodules are known as rhizobia and belong to the class Alphaproteobacteria and Betaproteobacteria. They promote the growth and nutrition of their respective legume hosts through atmospheric nitrogen fixation which takes place in the nodules induced in their roots or stems. In addition, rhizobia have other plant growth-promoting mechanisms, mainly solubilization of phosphate and production of indoleacetic acid, ACC deaminase and siderophores. Some of these mechanisms have been reported for strains of rhizobia which are also able to promote the growth of several nonlegumes, such as cereals, oilseeds and vegetables. Less studied are the mechanisms that have the rhizobia to promote the plant health; however, these bacteria are able to exert biocontrol of some phytopathogens and to induce the plant resistance. In this chapter, we revised the available data about the ability of the legume nodule-inducing bacteria for improving the plant growth, health and nutrition of both legumes and nonlegumes. These data showed that rhizobia meet all the requirements of sustainable agriculture to be used as bio-inoculants allowing the total or partial replacement of chemicals used for fertilization or protection of crops