Genetic variability and phylogenetic relationships of the autochthonous horse breed for meat production based on mitochondrial DNA

Publicado en el año 2008 en: Revista ITEA, 104 (2), 283-289. http://www.aida-itea.org/index.php/revista/contenidos?idArt=85&lang=esp Webs desde donde descargar las ponencias: http://acteon.webs.upv.es/ Web del congreso: http://www.uco.es/genetica/MERAGEM/xivreunion.htmSe han estudiado la variabilidad y relaciones genéticas de las cuatro poblaciones equinas de aptitud cárnica de España de protección especial (41 muestras) (Burguete (BUR): 10, Jaca Navarra (JAC): 11, Hispano Bretón (HB): 10 y Agrupación Hipermétrica del Pirineo (AHP): 10) a través del estudio del ADN mitocondrial (ADNmt). Se han encontrado 15 haplotipos en las 4 razas analizadas determinados por la existencia de 19 posiciones polimórficas de las cuales 18 han sido posiciones informativas parsimoniosas y 1 no informativa (singleton). La diversidad haplotípica (Hd) ha oscilado entre 0,758 del AHP y 0,993 del BUR siendo el valor medio de todas las razas de de 0,929 (SD = 0,016). La raza JAC ha presentado el mayor valor de diversidad nucleotídica (0,023). Casi la totalidad de los haplotipos encontrados los han compartido las razas analizadas excepto el haplotipo 8 que sólo lo ha presentado la AHP, el haplotipo 10 la raza BUR, los haplotipos 13 y 14 el HB y el haplotipo 15 la raza JAC. No se ha encontrado un agrupamiento claro de las poblaciones analizadas, lo que confirma los múltiples orígenes maternos previamente indicado por varios autores. No obstante, al haberse encontrado haplotipos específicos en las 4 poblaciones analizadas se deben tenerlos en cuenta a la hora de llevar a cabo los planes de conservación.Genetic variability and phylogenetic relationships of the autochthonous horse breed for meat production based on mitochondrial DNA We have studied the genetic variability and relationships of four endangered Spanish equine populations for meat production using mitochondrial DNA (mtDNA) (41 horses, 30 of them belong to Burguete (BUR), Hispano Bretón (HB) and Agrupación Hipermétrica del Pirineo (AHP) populations and the other 11 samples belong to Jaca Navarra (JAC) breed. Fifteen haplotypes were found and 19 polomorphic sites were detected, eighteen of them were parsimony informative sites and the other one was a singleton. Haplotipic diversity (Hd) ranged from 0.758 of AHP to 0.993 of BUR breed. The average Hd value was 0.929 (SD = 0.016). The JAC breed presented the highest nucleotide diversity value (0.023). Most of haplotypes found have been shared by the four horse populations except haplotype 8 that only was presented by AHP populaton, haplotype 10 by BUR, the haplotypes 13 and 14 by HB and haplotype 15 by JAC breed. A clear group of horses belong to the same population were not shown. These results confirm the multiple maternal origin previously shown by other authors. However we have found haplotypes specific of each breed that is important to take in account in their conservation programmes

Effect of an oral [alpha]2-adrenergic blocker (MK-912) on pancreatic islet function in non-insulin-dependent diabetes mellitus

We used MK-912, a potent new selective [alpha]2-adrenergic receptor antagonist that is active orally, to study the effect of short-term, selective [alpha]2-blockade on fasting plasma glucose (FPG) and pancreatic islet function in non-insulin-dependent diabetes (NIDDM). Ten asymptomatic patients with NIDDM received either a single oral dose of MK-912 (2 mg) or placebo in a double-blind, cross-over study. B-cell function was measured by the acute insulin response (AIR) to glucose (1.66 mmol/kg intravenously [IV]) and by the AIR to arginine (5 g IV) during a hyperglycemic glucose clamp at a mean glucose level of 32.1 mmol/L to provide an estimation of maximal B-cell secretory capacity. A-cell function was estimated by the acute glucagon response (AGR) to arginine during the glucose clamp. Effective [alpha]2-adrenergic blockade was apparently achieved, as there were substantial increases of plasma norepinephrine (NE) (P P P P P P P P = .06) and the C-peptide response (P = .07) to glucose compared with placebo. There was a small, but significant, overall treatment effect for both the AIR and AGR to arginine with MK-912 (both P 2-adrenergic blockade; (2) a small decrease of FPG and a small increase of fasting plasma insulin; (3) a small improvement of B-cell function due to an increase in maximal B-cell secretory capacity; and (4) a small increase in basal and stimulated glucagon. These findings suggest that endogenous [alpha]2-adrenergic tone may contribute, although to a small extent, to the impaired B-cell function in NIDDM. If an [alpha]2-blocker becomes available that does not increase BP, studies would be warranted to evaluate its potential impact on glucose regulation in patients with NIDDM.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/29070/1/0000105.pd

Contribution of genetic and epigenetic mechanisms to Wnt pathway activity in prevalent skeletal disorders

Producción CientíficaWe reported previously that the expression of Wnt-related genes is lower in osteoporotic hip fractures than in 26 osteoarthritis. We aimed to confirm those results by analyzing β-catenin levels and explored potential genetic 27 and epigenetic mechanisms involved. 28 β-Catenin gene expression and nuclear levelswere analyzed by real time PCR and confocal immunofluorescence. 29 Increased nuclear β-catenin was found in osteoblasts isolated from patients with osteoarthritis (99 ± 4 30 units vs. 76 ± 12, p = 0.01, n = 10), without differences in gene transcription, which is consistent with 31 a post-translational down-regulation of β-catenin and decreased Wnt pathway activity. 32 Twenty four single nucleotide polymorphisms (SNPs) of genes showing differential expression between fractures 33 and osteoarthritis (WNT4, WNT10A, WNT16 and SFRP1) were analyzed in DNA isolated from blood of 853 pa- 34 tients. The genotypic frequencies were similar in both groups of patients, with no significant differences. 35 Methylation ofWnt pathway genes was analyzed in bone tissue samples (15 with fractures and 15 with osteo- 36 arthritis) by interrogating a CpG-based methylation array. Six genes showed significant methylation differences 37 between both groups of patients: FZD10, TBL1X, CSNK1E, WNT8A, CSNK1A1L and SFRP4. The DNA demethylating 38 agent 5-deoxycytidine up-regulated 8 genes, including FZD10, in an osteoblast-like cell line, whereas it down- 39 regulated other 16 genes. 40 In conclusion,Wnt activity is reduced in patientswith hip fractures, in comparisonwith thosewith osteoarthritis. 41 It does not appear to be related to differences in the allele frequencies of the Wnt genes studied. On the other 42 hand, methylation differences between both groups could contribute to explain the differences inWnt activit

El grupu neandertal de la Cueva d' El Sidrón (Borines, Piloña)

El artículo está en la lengua asturianaPeer reviewe

La Cueva de El Sidrón (Piloña Asturias)

Estado de las excavaciones y estudios en la Cueva de El Sidrón (PIloña, Asturias)

Wage inequality, segregation by skill and the price of capital in an assignment model

Some pieces of empirical evidence suggest that in the U.S., over the last few decades, (i) wage inequality between-plants has risen much more than wage inequality within-plants and (ii) there has been an increase in the segregation of workers by skill into separate plants. This paper presents a frictionless assignment model in which these two features can be explained simultaneously as the result of the decline in the relative price of capital. Additional implications of the model regarding the skill premium and the dispersion in labor productivity across plants are also consistent with the empirical evidence. [resumen de autor

Correction : Chaparro et al. Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain: Large-Scale Epidemiological Study. J. Clin. Med. 2021, 10, 2885

The authors wish to make the following corrections to this paper [...]

Incidence, Clinical Characteristics and Management of Inflammatory Bowel Disease in Spain : Large-Scale Epidemiological Study

(1) Aims: To assess the incidence of inflammatory bowel disease (IBD) in Spain, to describe the main epidemiological and clinical characteristics at diagnosis and the evolution of the disease, and to explore the use of drug treatments. (2) Methods: Prospective, population-based nationwide registry. Adult patients diagnosed with IBD-Crohn's disease (CD), ulcerative colitis (UC) or IBD unclassified (IBD-U)-during 2017 in Spain were included and were followed-up for 1 year. (3) Results: We identified 3611 incident cases of IBD diagnosed during 2017 in 108 hospitals covering over 22 million inhabitants. The overall incidence (cases/100,000 person-years) was 16 for IBD, 7.5 for CD, 8 for UC, and 0.5 for IBD-U; 53% of patients were male and median age was 43 years (interquartile range = 31-56 years). During a median 12-month follow-up, 34% of patients were treated with systemic steroids, 25% with immunomodulators, 15% with biologics and 5.6% underwent surgery. The percentage of patients under these treatments was significantly higher in CD than UC and IBD-U. Use of systemic steroids and biologics was significantly higher in hospitals with high resources. In total, 28% of patients were hospitalized (35% CD and 22% UC patients, p < 0.01). (4) Conclusion: The incidence of IBD in Spain is rather high and similar to that reported in Northern Europe. IBD patients require substantial therapeutic resources, which are greater in CD and in hospitals with high resources, and much higher than previously reported. One third of patients are hospitalized in the first year after diagnosis and a relevant proportion undergo surgery

Geomorphological and sedimentary processes of the glacially influenced northwestern Iberian continental margin and abyssal plains

The offshore region of northwestern Iberia offers an opportunity to study the impacts of along-slope processes on the morphology of a glacially influenced continental margin, which has traditionally been conceptually characterised by predominant down-slope sedimentary processes. High-resolution multibeam bathymetry, acoustic backscatter and ultrahigh-resolution seismic reflection profile data are integrated and analysed to describe the present-day and recent geomorphological features and to interpret their associated sedimentary processes. Seventeen large-scale seafloor morphologies and sixteen individual echo types, interpreted as structural features (escarpments, marginal platforms and related fluid escape structures) and depositional and erosional bedforms developed either by the influence of bottom currents (moats, abraded surfaces, sediment waves, contourite drifts and ridges) or by gravitational features (gullies, canyons, slides, channel-levee complexes and submarine fans), are identified for the first time in the study area (spanning ~90,000 km2 and water depths of 300m to 5 km). Different types of slope failures and turbidity currents are mainly observed on the upper and lower slopes and along submarine canyons and deep-sea channels. The middle slope morphologies are mostly determined by the actions of bottom currents (North Atlantic Central Water, Mediterranean Outflow Water, Labrador Sea Water and North Atlantic Deep Water), which thereby define the margin morphologies and favour the reworking and deposition of sediments. The abyssal plains (Biscay and Iberian) are characterised by pelagic deposits and channel-lobe systems (the Cantabrian and Charcot), although several contourite features are also observed at the foot of the slope due to the influence of the deepest water masses (i.e., the North Atlantic Deep Water and Lower Deep Water). Thiswork shows that the study area is the result of Mesozoic to present-day tectonics (e.g. themarginal platforms and structural highs). Therefore, tectonism constitutes a long-term controlling factor, whereas the climate, sediment supply and bottom currents play key roles in the recent short-term architecture and dynamics. Moreover, the recent predominant along-slope sedimentary processes observed in the studied northwestern Iberian Margin represent snapshots of the progressive stages and mixed deep-water system developments of the marginal platforms on passive margins and may provide information for a predictive model of the evolution of other similar margins.Departamento de Investigación y Prospectiva Geocientífica, Unidad de Tres Cantos, Instituto Geológico y Minero de España, EspañaDepartamento de Geología y Geoquímica, Universidad Autónoma de Madrid, EspañaDepartment of Earth Sciences, Royal Holloway University of London, Reino Unid

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER), "A way of making Europe".Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals