Digenic inheritance in cystinuria mouse model

Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria type A, whereas mutations in SLC7A9, which encodes the light subunit b0,+AT, cause cystinuria type B. By crossing Slc3a1-/- with Slc7a9-/- mice we generated a type AB cystinuria mouse model to test digenic inheritance of cystinuria. The 9 genotypes obtained have been analyzed at early (2- and 5-months) and late stage (8-months) of the disease. Monitoring the lithiasic phenotype by X-ray, urine amino acid content analysis and protein expression studies have shown that double heterozygous mice (Slc7a9+/-Slc3a1+/-) present lower expression of system b0,+ and higher hyperexcretion of cystine than single heterozygotes (Slc7a9+/-Slc3a1+/+ and Slc7a9+/+Slc3a1+/-) and give rise to lithiasis in 4% of the mice, demonstrating that cystinuria has a digenic inheritance in this mouse model. Moreover in this study it has been demonstrated a genotype/phenotype correlation in type AB cystinuria mouse model providing new insights for further molecular and genetic studies of cystinuria patients

Draft genome sequences of Mycobacterium setense type strain DSM-45070 and the nonpathogenic strain Manresensis, isolated from the bank of the Cardener river in Manresa, Catalonia, Spain

This study was funded by the Spanish Government, Instituto de Salud Carlos III (ISCIII), through the CIBER CRP-TB and the FIS 011/01702 grants to PJC, and by Manresana de Micobacteriologia, s.l. Additional support came from IMPPC core funding from the Generalitat de Catalunya to LS. JV, GR, SS, were funded by grant ADE10/00026 from ISCIII. JV was also co-funded by ISIS contract II11/00014 from ISCIII. IC is supported by the Spanish Ministerio de Economia y Competitividad (MINECO) through a Ramón y Cajal contract RYC-2012-10627 and grant SAF2013-43521-R. E.J. was funded by Instituto de Salud Carlos III-PI1001438 and the European Regional Development Fund (FEDER), and CV by Miguel Servet Contract CP13/00174.We present here the draft genome sequences of two Mycobacterium setense strains. One of them corresponds to the M. setense type strain DSM-45070, originally isolated from a patient with a posttraumatic chronic skin abscess. The other one corresponds to the nonpathogenic M. setense strain Manresensis, isolated from the Cardener River crossing Manresa, Catalonia, Spain. A comparative genomic analysis shows a smaller genome size and fewer genes in M. setense strain Manresensis relative to those of the type strain, and it shows the genome segments unique to each strain

Draft genome sequences of Mycobacterium setense type strain DSM-45070 and the nonpathogenic strain Manresensis, isolated from the bank of the Cardener River in Manresa, Catalonia, Spain

We present here the draft genome sequences of two Mycobacterium setense strains. One of them corresponds to the M. setense type strain DSM-45070, originally isolated from a patient with a posttraumatic chronic skin abscess. The other one corresponds to the nonpathogenic M. setense strain Manresensis, isolated from the Cardener River crossing Manresa, Catalonia, Spain. A comparative genomic analysis shows a smaller genome size and fewer genes in M. setense strain Manresensis relative to those of the type strain, and it shows the genome segments unique to each strain

Square root module to combat dispersion-induced nonlinear distortion in Radio-over-Fiber Systems

Reduced dispersion-induced harmonics levels are reported for analogue radio-over-fiber systems by using a linearized receiver incorporating a memoryless electronic circuit with square root (SQRT)-like transfer function, and performing amplitude modulation (AM) at the transmitter. A practical implementation demonstrates the effectiveness of the AM-SQRT approach in linearizing the optical transmission system with respect to the conventional intensity modulation and direct detection system.Peer Reviewe

Centrosome clustering and Cyclin D1 gene amplification in double minutes are common events in chromosomal unstable bladder tumors

Background: Aneuploidy, centrosome abnormalities and gene amplification are hallmarks of chromosome instability (CIN) in cancer. Yet there are no studies of the in vivo behavior of these phenomena within the same bladder tumor. Methods: Twenty-one paraffin-embedded bladder tumors were analyzed by conventional comparative genome hybridization and fluorescence in situ hybridization (FISH) with a cyclin D1 gene (CCND1)/centromere 11 dual-color probe. Immunofluorescent staining of α, β and γ tubulin was also performed. Results: Based on the CIN index, defined as the percentage of cells not displaying the modal number for chromosome 11, tumors were classified as CIN-negative and CIN-positive. Fourteen out of 21 tumors were considered CIN-positive. All T1G3 tumors were included in the CIN-positive group whereas the majority of Ta samples were classified as CIN-negative tumors. Centrosome clustering was observed in six out of 12 CIN-positive tumors analyzed. CCND1 amplification in homogeneously staining regions was present in six out of 14 CIN-positive tumors; three of them also showed amplification of this gene in double minutes. Conclusions: Complex in vivo behavior of CCND1 amplicon in bladder tumor cells has been demonstrated by accurate FISH analysis on paraffin-embedded tumors. Positive correlation between high heterogeneity, centrosome abnormalities and CCND1 amplification was found in T1G3 bladder carcinomas. This is the first study to provide insights into the coexistence of CCND1 amplification in homogeneously staining regions and double minutes in primary bladder tumors. It is noteworthy that those patients whose tumors showed double minutes had a significantly shorter overall survival rate (p < 0.001)

Jouer la carte catalane? Un estudio de la presencia económica francesa en Cataluña, 1939-1975

During the Francoist period, many representatives of the French political and economic milieu underlined the big differences that, in their view, separated Catalonia from the rest of Spain. Did these perceptions have real consequences in the field of economic relations? We are particularly interested in testing if France had more intense or somehow specific relations —in the spheres of technology, investment, trade, tourism and migration— with Catalonia than with Spain as a whole. We examine also if the French agents used the same strategies towards Madrid and Barcelona, if they shared trading and financial partners and if the Catalan demands for autonomy affected the French attitude. In attempting to answer these questions, we will base on a great geographical and sectoral variety of sources.Numerosos representantes de la política y la economía francesas dejaron testimonio, a lo largo del franquismo, de su preferencia por Cataluña frente a otras regiones españolas. ¿Cómo se materializaron estas declaraciones en el ámbito de las relaciones económicas? ¿Se registraron más intercambios entre Francia y Cataluña que entre Francia y España? ¿Hubo diferencias cualitativas en materia de comercio, inversión, tecnología, turismo o emigración? ¿Se utilizaron las mismas estrategias en Barcelona que en Madrid? ¿Coincidieron, al menos en parte, los socios comerciales y financieros? ¿El gobierno y los empresarios franceses resultaron, de alguna forma, condicionados por las reivindicaciones autonomistas de Cataluña? Estas son las cuestiones que intentamos resolver en este trabajo, a partir de una selección de fuentes de muy diversa procedencia geográfica y sectorial

Jouer la carte catalane? Un estudio de la presencia económica francesa en Cataluña, 1939-1975

Numerosos representantes de la política y la economía francesas dejaron testimonio, a lo largo del franquismo, de su preferencia por Cataluña frente a otras regiones españolas. ¿Cómo se materializaron estas declaraciones en el ámbito de las relaciones económicas? ¿Se registraron más intercambios entre Francia y Cataluña que entre Francia y España? ¿Hubo diferencias cualitativas en materia de comercio, inversión, tecnología, turismo o emigración? ¿Se utilizaron las mismas estrategias en Barcelona que en Madrid? ¿Coincidieron, al menos en parte, los socios comerciales y financieros? ¿El gobierno y los empresarios franceses resultaron, de alguna forma, condicionados por las reivindicaciones autonomistas de Cataluña? Estas son las cuestiones que intentamos resolver en este trabajo, a partir de una selección de fuentes de muy diversa procedencia geográfica y sectorial