Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature

Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene. Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations. Results: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families. Conclusions: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

Investigations of Ramachandran disallowed conformations in protein domain families

In peptide and protein structures, occurrence of (phi,psi.) angles in the disallowed region of the Ramachandran map almost always suggests local regions of error or poor accuracy. However, very rarely genuine disallowed conformations occur as noted in the current study in proteins of known structure available at ultra-high resolution (<= 1.2 (A) over circle). In the current work, extent of conservation of genuine disallowed conformations in homologous proteins of known structures has been analyzed. From a dataset of 124 protein domain families, with structure of at least one constituent member in each family available at a resolution of 1.2 (A) over circle or better, we have analyzed the conservation of 221 disallowed conformations. It is observed that the disallowed conformation is only moderately conservedin protein domain families. In the gross dataset no particular residue type adopting disallowed conformation elicit high conservation of residue type though there are alignment positions in the dataset with complete conservation of both the residue type and the disallowed conformation. Conserved disallowed conformation in protein domain families play biologically significant role in roughly 50% of the cases. The residues with the disallowed conformation or its flanking residues are often located within or around the functional site of the protein. (C) 2013 Elsevier B.V. All rights reserved.

Common recognition principles across diverse sequence and structural families of sialic acid binding proteins

Sialic acids form a large family of 9-carbon monosaccharides and are integral components of glycoconjugates. They are known to bind to a wide range of receptors belonging to diverse sequence families and fold classes and are key mediators in a plethora of cellular processes. Thus, it is of great interest to understand the features that give rise to such a recognition capability. Structural analyses using a non-redundant data set of known sialic acid binding proteins was carried out, which included exhaustive binding site comparisons and site alignments using in-house algorithms, followed by clustering and tree computation, which has led to derivation of sialic acid recognition principles. Although the proteins in the data set belong to several sequence and structure families, their binding sites could be grouped into only six types. Structural comparison of the binding sites indicates that all sites contain one or more different combinations of key structural features over a common scaffold. The six binding site types thus serve as structural motifs for recognizing sialic acid. Scanning the motifs against a non-redundant set of binding sites from PDB indicated the motifs to be specific for sialic acid recognition. Knowledge of determinants obtained from this study will be useful for detecting function in unknown proteins. As an example analysis, a genome-wide scan for the motifs in structures of Mycobacterium tuberculosis proteome identified 17 hits that contain combinations of the features, suggesting a possible function of sialic acid binding by these proteins.

Minimizing total weighted tardiness on heterogeneous batch processors with incompatible job families

In this paper, we address a scheduling problem for minimizing total weighted tardiness. The background for the paper is derived from the automobile gear manufacturing process. We consider the bottleneck operation of heat treatment stage of gear manufacturing. Real-life scenarios like unequal release times, incompatible job families, nonidentical job sizes, heterogeneous batch processors, and allowance for job splitting have been considered. We have developed a mathematical model which takes into account dynamic starting conditions. The problem considered in this study is NP-hard in nature, and hence heuristic algorithms have been proposed to address it. For real-life large-size problems, the performance of the proposed heuristic algorithms is evaluated using the method of estimated optimal solution available in literature. Extensive computational analyses reveal that the proposed heuristic algorithms are capable of consistently obtaining near-optimal statistically estimated solutions in very reasonable computational time.

Familias monoparentales: satisfacción vital en madres jóvenes inmigrantes

[SPA] Conocer el bienestar psicológico subjetivo y satisfacción vital de quienes asumen la responsabilidad de las familias monoparentales mejora la acción educativa, ayudando a prevenir situaciones de riesgo y exclusión social. Este trabajo presenta el análisis de la satisfacción vital expresada por un grupo de madres jóvenes inmigrantes al frente de familias monomarentales usuarias del Programa Beregain de la Fundación Itaka-Escolapios (Bilbao). Se realizaron entrevistas individuales semiestructuradas a las madres que integran la muestra. El análisis e interpretación de datos se llevaron a cabo conforme a una metodología cualitativa, específicamente el estudio de casos. Los resultados revelaron la escasa satisfacción en ciertos ámbitos vitales relacionados con las relaciones interpersonales, el ocio, la conciliación del cuidado de sus hijos/as con la propia formación, y la imposibilidad de hacer frente a los gastos económicos sin la ayuda que reciben por parte de la fundación.

Keys to families of Cladocera and to subfamilies, genera, species and subspecies of Macrothricidae and Moinidae [Translation from: Leningrad, Fauna SSSR, Crustacea 1 (3), 1971]

Identification keys to families of Cladocera and to subfamilies, genera, species and subspecies of Macrothricidae and Moinidae are given. This translation does not include ecological notes or illustrations.

Extending the Bajo de Sico, Puerto Rico, Seasonal Closure: An Examination of Small-scale Fishermen’s Perceptions of Possible Socio-economic Impacts on Fishing Practices, Families, and Community

Despite considerable conservation efforts, many reef fish fisheries around the world continue to be in peril. Many are vulnerable to overexploitation because they have predictable and highly aggregated spawning events. In U.S. Caribbean waters, fishery managers are increasingly interested in advancing the use of closed areas as a means for rebuilding reef fisheries, protecting coral reef habitats, and furthering ecosystem-based management while maintaining the sustained participation of local fishing communities. This study details small-scale fishermen’s views on the Caribbean Fishery Management Council’s proposals to lengthen the current Bajo de Sico seasonal closure off the west coast of Puerto Rico to afford additional protection to snapper-grouper spawning populations and associated coral reef habitats. Drawing on snowball sampling techniques, we interviewed 65 small-scale fishermen who regularly operate in the Bajo de Sico area. Snowball sampling is a useful method to sample difficult-to-find populations. Our analysis revealed that the majority of the respondents opposed a longer seasonal closure in the Bajo de Sico area, believing that the existing 3-month closure afforded ample protection to reef fish spawning aggregations and that their gear did not impact deep-water corals in the area. Whilst fishermen’s opposition to additional regulations was anticipated, the magnitude of the socio-economic consequences described was unexpected. Fishermen estimated that a year round closure would cause their gross household income to fall between 10% and 80%, with an average drop of 48%. Our findings suggest that policy analysts and decision-makers should strive to better understand the cumulative impacts of regulations given the magnitude of the reported socio-economic impacts; and, more importantly, they should strive to enhance the existing mechanisms by which fishermen can contribute their knowledge and perspectives into the management process.

Socio-economic survey of fisher families, 1958-59

Fisher families had been investigated by the Department of Commerce and Industries in earlier economic surveys conducted in 1935, 1938 and 1939 (Das Gupta, 1937 a & b; 1944 a & b). These surveys were directed at the general economic conditions of the urban and rural sectors of the population and therefore did not provide much information in particular on the life of the fisherman or his environment. The Department of Fisheries in 1954 conducted a rapid enquiry into the living conditions of fishermen to obtain some data on their income, indebtedness and general social conditions, at the request of the Canadian Co-operative Consultant for incorporation in his report on the "Status and Possibilities of Co-operative Development of the Fisheries of Ceylon” (MacDonald, 1954). The present survey was undertaken to provide more definite socio-economic information on the fishermen of Ceylon, covering such aspects as income, expenditure, indebtedness and living conditions. The survey was started in June, 1958, but was interrupted by the unsettled conditions of the Island at the time, taking therefore a little over a year for completion. Some of the data collected was used as a basis for a report on the living conditions of fishermen, incorporated in the “Guide to the Fisheries of Ceylon", a hand book published by the Department of Fisheries (Anon. 1958).

Two families of antimicrobial peptides with multiple functions from skin of rufous-spotted torrent frog, Amolops loloensis

There are around 27 species of Amolops amphibian distributed in South-east of Asia. Seven antimicrobial peptides (AMPs) belonging to two different families were purified from skin of rufous-spotted torrent frog, Amolops loloensis, and designated brevinins

Two families of antimicrobial peptides from wasp (Vespa magnifica) venom

The hornet possesses highly toxic venom, which is rich in toxin, enzymes and biologically active peptides. Many bioactive substances were identified from wasp venom. Two families of antimicrobial peptides were purified and characterized from the venom of