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Objectives: The Brown trout is a salmonid species with a high commercial value in Europe. Life history and spawning behaviour include resident (Salmo trutta m. fario) and migratory (Salmo trutta m. trutta) ecotypes. The main objective is to apply RNA-seq technology in order to obtain a reference transcriptome of two key tissues, brain and muscle, of the riverine trout Salmo trutta m. fario. Having a reference transcriptome of the resident form will complement genomic resources of salmonid species. Data description: We generate two cDNA libraries from pooled RNA samples, isolated from muscle and brain tissues of adult individuals of Salmo trutta m. fario, which were sequenced by Illumina technology. Raw reads were subjected to de-novo transcriptome assembly using Trinity, and coding regions were predicted by TransDecoder. A final set of 35,049 non-redundant ORF unigenes were annotated. Tissue differential expression analysis was evaluated by Cuffdiff. A False Discovery Rate (FDR) ≤ 0.01 was considered for significant differential expression, allowing to identify key differentially expressed unigenes. Finally, we have identified SNP variants that will be useful tools for population genomic studies. [ABSTRACT FROM AUTHOR]

Introduction: Autism is characterized by a broad spectrum of disorders of communication, language skills, social interaction and behaviour (Autism Spectrum Disorder, ASD). Studies of twins’ concordance indicate that 85–90% of the ASD variability can be attributed to a genetic basis with a strong genotype-environment interaction. It has been suggested that copy number variations (CNV) contribute significantly to the phenotypic variability of complex disorders such as autism. 10–15% of monozygotic twin pairs show discordance on ASD. Objectives: To evaluate CNVs patterns in a pair of male monozygotic twins discordant for ASD. Aims: To identify ASD candidate genomic regions and genes. Methods: A pair of discordant monozygotic twins was diagnosed according to ADOS and ADI-R as Autistic Disorder (twin1) and Pervasive Developmental Disorder Not Otherwise Specified (twin2). DNA was obtained from blood and saliva and used to perform a comparative genome hybridization (CGH) analysis with the Agilent 2X400K CGH-array. DNA from each twin was compared with a DNA pool obtained from healthy controls. CGH results were analysed by Agilent Genomic Workbench using ADAM2 algorithm (threshold of 6 and a minimum of 4 probes) to identify CNVs. Results: X-fragile and Angelman Syndrome aetiology were discarded. We identified common and private CNV in blood and saliva. Two CNV regions (CNVR) located at 16p11.2 and 1p36.13 were identified as private for twin1 and twin2, respectively. Conclusion: CNVR differ among ASD discordant monozygotic twins. 16p11.2 microdeletion syndrome has been related to autism. An in deep characterization could allow us to identify candidate genes in ASD. [ABSTRACT FROM AUTHOR]

Marvin Zuckerman''s psychobiological personality model states that high levels of Dopamine and Noradrenaline are associated with a sensation seeking and aggressive behaviour. Besides, both catecholamines are regulated by two enzymes: catechol-O-methyltransferase (COMT), and Monoaminooxidase (MAO). Those hypotheses have been partially supported by genetic association studies since an effect of COMT on diverse antisocial and disinhibited personality measures has been reported. On the other hand, some evidences suggest a relationship between polymorphisms of receptor 2 of the dopamine (DRD2) and the inhibition of behaviour. The present study is aimed to explore the role of both polymorphisms (COMT and DRD2) on the differences observed in the Antisocial Personality Disorder (APD). 147 inmates from the Centre Penitentiary of Ponent (Lleida) participated in the present study. The mean age was 33.31 (S.d. 8.6). The APD was assessed by the ETAPA (Escala del Trastorno Antisocial de la Conducta [Antisocial Personality Disorder Scale]; Aluja 1991). Results suggest an effect of the COMT on the APD although the risk allele reported (Val) is different from the one reported in other studies (Met). No association is found for the DRD2 although an expected tendency is observed. Combining two polymorphisms has produced a larger effect in other studies (García, Aluja, Fibla, Cuevas., y García, 2010). So, both COMT and DRD2 were analysed conjointly. In this case, a significant effect is observed. Results are discussed within the framework of the Zuckerman''s Psychobiologial Personality model. [Copyright &y& Elsevier]

Mass trapping is being used in Mediterranean regions to control Ceratitis capitata (Wiedemann) (Diptera: Tephritidae) in citrus. The technique is based on placing a high density of traps with an attractant (Ferag CC D TM®, a three-membrane dispensers of trimethylamine, ammonium acetate and diaminoalkane), and a toxicant, aiming to capture the highest numbers of adults in the grove. From 2006 to 2008, field trials were conducted in commercial Clementine ( Citrus reticulata Blanco) groves to evaluate the efficacy against medfly of using different trap densities, 25, 50, 75 and 100 traps per ha. Based on the number of adults captured, fruit maturity parameters and medfly fruit damage, a 25 trap per ha density appears to be a valid stand-alone method to protect mid-season varieties (Clemenules) from the attack of C. capitata, because <0.5% of fruits on average were damaged at harvest. For early-season varieties (Loretina and Marisol), mass trapping technique alone did not offer a satisfactory medfly control, because medfly populations were higher in the warmer months of the early-season variety production, which led to a higher percentage of attacked fruits, even when increasing the trap density from 50 to 100 per ha. However, using 50 traps per ha density combined with chemical treatments only to the perimeter row of the grove gave good results, because <2% of fruits in average were damaged at harvest. [ABSTRACT FROM AUTHOR]

Toll-like receptor 2 (TLR2) plays a key role in innate immune response recognizing molecular patterns expressed by pathogens. rs111200466 is a TLR2 promoter insertion/deletion polymorphism with contradictory data about its role in human immunodeficiency virus type 1 (HIV-1) infection. We analyzed rs111200466 in HIV-1 disease progression and showed a correlation with a faster progression to the CD4+ < 200 cells/μL outcome for deletion allele carriers (Cox regression analysis: hazard ratio, 2.4 [95% confidence interval, 1.4-4]; P = .001). When naive patients with CD4+ < 200 cells/μL started antiretroviral treatment, rs111200466-deletion carriers showed a trend toward a slower, recovery rate (time required to reach CD4+ > 350 cells/μL; Cox P = .36). Our data suggest rs111200466 as a prognosis factor for HIV-1 disease progression. [ABSTRACT FROM AUTHOR]

Impulsive personality phenotype has been extensively related with genetic and hormonal factors. This study has two objectives: a) to analyse the interactions between testosterone levels and CAG repeat length polymorphism as a modulator of androgen receptor ( AR ) sensitivity with regard to impulsiveness traits, and b) to evaluate the contribution of other biological variables as Luteinising Hormone, Follicle Stimulating Hormone, Sex Hormone Binding Globulin (LF, FSH, SHBG) and albumin in the relationship between testosterone levels and AR CAG length polymorphism with impulsiveness. A sample of 105 healthy males (mean age 26.71 ± 9.68 SEM) was analysed resulting in three groups of subjects according to CAG repeat lengths. Impulsiveness was measured through the Barratt's Impulsiveness Personality Scale, including three components: Motor Impulsiveness, Cognitive Impulsiveness and Non-Planning Impulsiveness. A series of ANOVAS and linear regression models predicting impulsiveness scales were conducted. Age, hormones, CAG repeat length and hormone × CAG repeat interactions were included in the regression models as independent variables. Results show that subjects with short or medium CAG repeat length tended to show higher impulsiveness phenotypes compared to long CAG repeat. The interaction between Free Testosterone and CAG, and between SHBG and CAG accounted for differences on impulsiveness (R: .47, R 2 : .22 and R: .43; R 2 : .18, respectively).This pattern was especially observed for the short CAG repeat group and Motor Impulsiveness. [ABSTRACT FROM AUTHOR]

HIV-1 induces activation of complement through the classical and lectin pathways. However, the virus incorporates several membrane-bound or soluble regulators of complement activation (RCA) that inactivate complement. HIV-1 can also use the complement receptors (CRs) for complement-mediated antibody-dependent enhancement of infection (Ć-ADE). We hypothesize that hypofunctional polymorphisms in RCA or CRs may protect from HIV-1 infection. For this purpose, 139 SNPs located in 19 RCA and CRs genes were genotyped in a population of 201 Spanish HIV-1-exposed seronegative individuals (HESN) and 250 HIV-1-infected patients. Two SNPs were associated with infection susceptibility, rs1567190 in CR2 (odds ratio (OR)=2.27, P=1 × 10−4) and rs2842704 in C4BPA (OR=2.11, P=2 × 10−4). To replicate this finding, we analyzed a cohort of Italian, sexually HESN individuals. Although not significant (P=0.25, OR=1.57), similar genotypic proportions were obtained for the CR2 marker rs1567190. The results of the two association analyses were combined through a random effect meta-analysis, with a significant P-value of 2.6x10−5 (OR=2.07). Furthermore, we found that the protective CR2 genotype is correlated with lower levels CR2 mRNA as well as differences in the ratio of the long and short CR2 isoforms. [ABSTRACT FROM AUTHOR]

This research explores if some polymorphisms associated to Serotonin (5-HTTLPR and 5-HTTVNTR), Dopamine (DRD2), testosterone (CAG and GGN) and two enzymes (COMT [Val158Met] and MAO-A) may be linked to differences on Impulsive-Sensation Seeking, Neuroticism and Extroversion factors of the Zuckerman’s personality model. Hypothesis reproduce the concrete paths raised by Zuckerman’s Psychobiological model ( Zuckerman, 2005 ) from differences on serotonin, dopamine, testosterone, COMT and MAO-A to differences on personality basic traits. Several phenotypic personality measures (ImpSS, N-Anx, and Sy from the ZKPQ, P from EPQ-R, Barratt’s Impulsivity Scale, and N, E, and C from the NEO-FFI) were applied to two samples: 153 inmates and 105 controls. All males. Results give some support to the Zuckerman’s psychobiological model since phenotypic differences were mostly in the predicted direction when the role of different polymorphisms was considered conjointly. [ABSTRACT FROM AUTHOR]

Impulsive-disinhibited personality (IDP) is a behavioral trait mainly characterized by seeking immediate gratification at the expense of more enduring or long-term gains. This trait has a major role in the development of several disinhibitory behaviors and syndromes, including psychopathy, attention-deficit and hyperactivity disorder, cluster-B personality disorders, criminality and alcoholism. Available data consistently support a strong heritable component, accounting for 30-60% of the observed variance in personality traits. A genome-wide analysis of copy-number variants was designed to identify novel genetic pathways associated with the IDP trait, using a series of 261 male participants with maximized opposite IDP scores. Quantitative trait locus analysis of candidate copy-number variants (CNVs) was conducted across the entire IDP continuum. Functional effects of associated variants were evaluated in zebrafish embryos. A common CNV mapping to the immune-related gene SIRPB1 was significantly associated with IDP scores in a dose-dependent manner ( β = −0.172, P < 0.017). Expression quantitative trait locus analysis of the critical region revealed higher SIRPB1 mRNA levels associated with the haplotype containing the deleted allele ( P < 0.0007). Epigenetic marks highlighted the presence of two potential insulators within the deleted region, confirmed by functional assays in zebrafish embryos, which suggests that SIRPB1 expression rates are affected by the presence/absence of the insulator regions. Upregulation of SIRPB1 has been described in prefrontal cortex of patients with schizophrenia, providing a link between SIRPB1 and diseases involving disinhibition and failure to control impulsivity. We propose SIRPB1 as a novel candidate gene to account for phenotypic differences observed in the IDP trait. [ABSTRACT FROM AUTHOR]

• Chromatin conformation influences enhancer-promoter interactions. • SNPs affecting these interactions generate expression quantitative trait loci (eQTL). • Some of these eQTL SNPs have been associated to human disease. • Chromatin conformation capture techniques lack resolution to evidence subtle effects. • Here we propose a cost-efficient approach for allele-specific 3C analysis. A key advance in our understanding of gene regulation came with the finding that the genome undergoes three-dimensional nuclear folding in a genetically determined process. This 3D conformation directly influences the association between enhancers and their target promoters. This complex interplay has been proven to be essential for gene regulation, and genetic variants affecting this process have been associated to human diseases. The development of new technologies that quantify these DNA interactions represented a revolution in the field. High throughput techniques like HiC provide a general picture of chromatin topology. However, they often lack resolution to evidence subtle effects that single nucleotide polymorphisms exert over the contacts between cis -regulatory regions and target promoters. Here we propose a cost-efficient approach to perform allele-specific chromatin conformation analysis. As a proof of concept, we analyzed the impact of a common deletion mapping between SIRPB1 promoter and one of its downstream enhancers. [ABSTRACT FROM AUTHOR]

Interactions between CAG repeat genotypes; free testosterone (FT) and sex hormone binding globulin (SHBG) with Motor Impulsiveness were analyzed in a sample of 105 males (mean age 26.71 + 9.68 SEM). Motor Impulsiveness was assessed by Barratt Impulsivity Scale (BIS-10). Sexual hormones including FT, SHBG, luteinizing hormone (LH), follicle- stimulating hormone (FSH), total testosterone (TT) and bio available testosterone (BT) were determined. Hormones were obtained by chromatography and androgen receptor CAG repeat length genotypes by polymerase chain reaction (PCR) techniques. Three groups of subjects were formed according to CGA repeats lengths (short: <20, medium: >20 and <23; and long: >23). Lineal regression models predicting Motor Impulsiveness (dependent variable) were considered including the hormones, GAG repeats genotype and hormone-GAG repeats interaction. Results showed significant interaction between free testosterone ( p < 0.001) and SHBG ( p < 0.016) with CAG repeats genotype in determining motor impulsiveness following the hypothesized expected direction. [ABSTRACT FROM AUTHOR]

Introduction: Impulsivity/disinhibition trait has been defined as the predisposition to respond to internal or external stimuli without regard to the potentially negative consequences. The genetic of personality traits has been evaluated in relation to microsatellites and SNPs, however, the contribution of copy number variation (CNV) is poorly known. We hypothesize that CNV may be part of the genetic component of the impulsivity/disinhibition trait. Objectives: To evaluate the distribution of CNV in a cohort of impulsive/disinhibited subjects. Aims: To detect CNV, CNV regions (CNVR) and candidate genes involved in impulsive-disinhibited trait. Methods: Comparative genome hybridization (CGH) analysis in a group of subjects that scores the highest values in impulsivity/disinhibition questionnaires. DNA from each high scoring subject was compared with a pool of DNA obtained from low scoring controls. Data was analysed by Agilent Genomic Workbench using ADAM2 algorithm to identify CNVs and CNVR with statistical threshold of 7.5 and a minimum of 4 probes. Results: A list of 68 genes, from the 38 selected CNVRs, was obtained from Human Genome build 37 (h19). Enrichment of genes for biological attributes and disease association were captured from Phenotype-Genotype Integrator and GeneDecsk web resources. Experimental validation of enriched genes, by Taqman copy number assays and MLPA, are in progress. Conclusions: As an exploratory strategy we will be able to capture genes differentially represented in subjects analyzed, that could be experimentally validated in the entire cohort. [ABSTRACT FROM AUTHOR]