A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

<p>Abstract</p> <p>Background</p> <p>Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.</p> <p>Methods</p> <p>Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.</p> <p>Results</p> <p>We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, <it>CERKL</it>, <it>BBS5, KLHL23, NEUROD1</it>, and <it>SF3B1 </it>within this locus, were not mutated.</p> <p>Conclusion</p> <p>A novel locus for adCRD, named <it>CORD12</it>, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.</p

Glycobiology of cell death: when glycans and lectins govern cell fate

Although one typically thinks of carbohydrates as associated with cell growth and viability, glycosylation also has an integral role in many processes leading to cell death. Glycans, either alone or complexed with glycan-binding proteins, can deliver intracellular signals or control extracellular processes that promote initiation, execution and resolution of cell death programs. Herein, we review the role of glycans and glycan-binding proteins as essential components of the cell death machinery during physiologic and pathologic settings.Fil: Lichtenstein, Rachel. Ben-Gurion University of the Negev. Faculty of Engineering. Department of Biotechnology Engineering; IsraelFil: Rabinovich, Gabriel Adrian. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina. Universidad de Buenos Aires. Facultad de Cs.exactas y Naturales. Departamento de Quimica Biologica; Argentin

Benthic microbial indicators of fish farm impact in a coastal area of the Tyrrhenian Sea

We studied the impact of organic loads due to the biodeposition of a fish farm in a nonimpacted coastal area of the Tyrrhenian Sea (Western Mediterranean). Sediment chemistry and benthic microbial community were investigated from July 1997 to February 1998 on monthly basis at two stations: one was located under the fish farm, while the second was about 1 km away, and served as a reference site. The presence of the cage induced rapid changes in the benthic conditions: the sediments were rapidly (after 6 weeks) reduced. A significant accumulation of biopolymeric carbon was observed beneath the cage both 2 weeks after the initial cage deployment, on non-impacted sediments, and 5–7 months after, and appeared to be related to the fish farm production cycle. The density of microbial communities beneath the fish farm increased only during the first month of farming activity (July) and partially 7 months after cage disposal (i.e. in January), when there was a significant sediment organic enrichment. Additional evidence of rapid impact of the fish farm on the benthic bacterial communities is provided by the increase in the numbers of autofluorescent microbial cells. The photosynthetic eukaryotic cells displayed a highly reduced contribution to total autofluorescent microbial density, indicating that their decrease is related with biopolymeric carbon accumulation, and probably was due also to ‘‘shadow effect’’ induced by suspended material, coming from the fish farm, on the environment below. We propose here, to apply the ratio of culturable heterotrophic bacteria to microbial direct counts (CFU/MDC) to detect fish farm impact. In cage sediments, organic enrichment and the consequent modification of the characteristics of the benthic environment, determined an increase in aerobic heterotrophicbacteria and vibrio density indicating that they are efficient colonizers of organic-rich sediments. Densities of Escherichia coli and Enterococci were not significantly higher than in the reference site, and are likely of terrestrial origin. Thus they cannot be used as specific indicators of fish farm impact

Equilibrium concepts in transportation networks: generalized Wardrop conditions and variational formulations

We present two new Wardrop-type definitions of equilibrium for transportation networks and we investigate their relationships with variational formulations of Stampacchia or Minty-type