Integrative Taxonomy Reveals Hidden Diversity in the Aloina catillum Complex (Pottiaceae, Bryophyta).

Aloina catillum is a variable moss typical of xerophytic environments in the Neotropics, characterized against other closely allied Aloina species with well-differentiated leaf border by its setae twisted to the left throughout. In order to clarify its variability and its relationships with the allied species with differentiated leaf border A. brevirostris, A. obliquifolia, and A. rigida, we performed an integrative study including sequence data from four markers (nuclear ITS, plastid atpB-rbcL, trnG, trnL-F), morphometry, and species assembling by automatic partitioning (ASAP) algorithm. Our data suggest that A. catillum consists of at least three species: A. calceolifolia (an earlier name for A. catillum), and two species described here as a new, A. bracteata sp. nov. and A. limbata sp. nov. This latter species includes the specimens previously identified as A. obliquifolia from South America. Additionally, some morphological and molecular variability was also detected in A. limbata, but was not consistent enough to be recognized taxonomically. The study supports the presence of A. brevirostris in the Neotropics and A. rigida is tentatively excluded from South America. Full descriptions of the A. catillum s.l. species and a diagnostic key to this complex in South America are provided.

Circumscription and Phylogenetic Position of Two Propagulose Species of Syntrichia (Pottiaceae, Bryophyta) Reveals Minor Realignments within the Tribe Syntricheae.

In the course of a worldwide revision of the genus Syntrichia, we identified problems in the circumscription of some species of the genus as well as among some allied genera grouped in the tribe Syntricheae. This is the case for the two propagulose Syntrichia amphidiacea and S. gemmascens, closely related to Streptopogon. We analyzed phylogenetic relationships between these species, based on nuclear (ITS) and two plastid (trnL-F and trnG) markers and morphological features. Species delimitation using molecular data was consistent with our preliminary morphological inference. Phylogenetic analyses were performed using maximum likelihood and Bayesian inference methods. Our results placed Syntrichia amphidiacea in the Streptopogon clade. Syntrichia gemmascens is also included in Streptopogon in spite of the discrepancy of the ITS and plastid relationships, which could be evidence of an exchange of genetic material between species in various lineages in the Pottioideae. Streptopogon is maintained as a separate genus on the basis of morphology characters, and we consider the differentiation of laminal papillae and the presence of a stem central strand as new characters in the genus. We accept Sagenotortula as distinct genus sister to Syntrichia. We consider the lack of costal dorsal epidermis and the differentiation of a crescent-shaped costal dorsal stereid band as distinctive generic characters in Syntrichia. Additionally, we include Syntrichia percarnosa as a new synonym for S. breviseta. Three names are lectotypified.

Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España / Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain

Fundamento y objetivo: El síndrome de Bardet-Biedl (SBB) es una enfermedad genética multisistémica poco frecuente en población caucásica, caracterizada por una pronunciada variabilidad fenotípica y una gran heterogeneidad genética. Pertenece al grupo de las ciliopatías, causadas por defectos en la estructura y/o función ciliar. Dada la gran complejidad diagnóstica del síndrome, el objetivo de este estudio ha sido analizar el conjunto global de afectados recogidos para elaborar un algoritmo que facilite el diagnóstico molecular rutinario del SBB, así como calcular algunos parámetros epidemiológicos para población española. Pacientes y método: Se han analizado 116 afectados de SBB pertenecientes a 89 familias procedentes de toda la geografía española. Todos los probandos cumplían los criterios diagnósticos establecidos para el SBB. Para ello, se utilizaron las siguientes técnicas: microchip de genotipado, secuenciación directa y microchip de homocigosidad para familias consanguíneas. Resultados: Ha sido posible diagnosticar al 47% de las familias (21% mediante el microchip de genotipado, 18% mediante secuenciación directa de genes BBS predominantes y 8% mediante el mapeo de regiones homocigotas). En cuanto a los datos epidemiológicos, se obtuvo un valor de prevalencia del SBB en España de 1:407.000, así como una razón por sexos de 1,4:1 (varones:mujeres). Conclusiones: El algoritmo propuesto, basado en el análisis de genes BBS predominantes combinado con estudios de homocigosidad, ha permitido confirmar el diagnóstico molecular en un porcentaje significativo de familias con sospecha clínica de SBB. Este algoritmo diagnóstico permitirá optimizar el análisis molecular del SBB (AU)

Background and objective: Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. Patients and method: We analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). Results: By means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). Conclusions: The proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS (AU)

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain]. / Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España.

BACKGROUND AND OBJECTIVE: Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. PATIENTS AND METHOD: We analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). RESULTS: By means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). CONCLUSIONS: The proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS.

Characterization and improvement of apple extracts for the diagnosis of apple IgE-mediated allergy.

BACKGROUND: The production process of reliable fruit extracts is not well established. OBJECTIVES: To improve the overall quality of apple extracts by reducing protein loss during the manufacturing process and to evaluate the improved extracts using in vivo and in vitro experiments. METHODS: Two types of extracts were prepared from peels of Golden Delicious apples (Malus domesticus). Extract A was extracted, 1:2 wt/vol, for 30 minutes at 40 degrees C in 0.01 M phosphate-buffered saline, and extract B was extracted, 1:2 wt/vol, in phosphate-buffered saline with 20% polyvinylpolypyrrolidone and 2-mmol/L EDTA. Both extracts were filtered, dialyzed in 3.5-kDa dialysis membranes, and lyophilized. The antigenic and allergenic profiles were analyzed using immunoblot and enzyme-linked immunosorbent assay. Nine patients clinically sensitive to apples and 12 controls underwent skin testing with both extracts. RESULTS: Extracts A and B had dry weight yields of 0.71% and 1.86% and protein contents of 104.6 and 257 microg/mg of freeze-dried material, respectively. A steady and progressive loss of protein, greater in extract A than in extract B, was detected at different intervals during the manufacturing process of both extracts. Extract B produced larger wheal sizes than extract A (P = .008). Enzyme-linked immunosorbent assay inhibition results confirmed that extract B had a greater inhibition capacity than extract A. CONCLUSIONS: A progressive loss of protein content occurs during the manufacturing of apple extracts. Wheal sizes induced by extract B were significantly larger than those induced by extract A and prick-by-prick solutions. Extract B was also more potent in vitro than extract A.