Temperament is fundamental to animal production due to its direct influence on the animal-herdsman relationship. When compared to calm animals, the aggressive, anxious or fearful ones exhibit less ...weight gain, lower reproductive efficiency, decreased milk production and higher herd maintenance costs, all of which contribute to reduced profits. However, temperament is a trait that is complex and difficult to assess. Recently, a new quantitative system, REATEST®, for assessing reactivity, a phenotype of temperament, was developed. Herein, we describe the results of a Genome-wide association study for reactivity, assessed using REATEST® with a sample of 754 females from five dual-purpose (milk and meat production) Guzerat (Bos indicus) herds. Genotyping was performed using a 50k SNP chip and a two-step mixed model approach (Grammar-Gamma) with a one-by-one marker regression was used to identify QTLs. QTLs for reactivity were identified on chromosomes BTA1, BTA5, BTA14, and BTA25. Five intronic and two intergenic markers were significantly associated with reactivity. POU1F1, DRD3, VWA3A, ZBTB20, EPHA6, SNRPF and NTN4 were identified as candidate genes. Previous QTL reports for temperament traits, covering areas surrounding the SNPs/genes identified here, further corroborate these associations. The seven genes identified in the present study explain 20.5% of reactivity variance and give a better understanding of temperament biology.
Sedimentary sterols and linear alkylbenzenes associated with allochthonous organic matter (AOM) inputs were studied in surface sediments along the Tubarão riverbed, South Brazil. These markers were ...analysed in terms of concentrations, diagnostic ratios and by using multivariate analyses to identify the main organic matter sources. It was necessary to integrate all these factors to distinguish the sources and determine sewage contamination. Phytosterols predominated over faecal sterols, but the contributions of livestock waste along the river (determined in 50% of the sites) were confirmed by the fingerprint analysis. Raw sewage contamination was verified at one site, according to the increased levels of sewage molecular markers and confirmed by the multivariate analyses and diagnostic ratios calibrated to this region. A possible synergistic effect between inorganic nanoparticles from coal mine waste and organic contaminants related to AOM input was suggested and should not be ignored since both activities severely contribute to the environmental changes in much of this fluvial-estuarine gradient from the South Atlantic.
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•Sterols and LABs reveal sewage and livestock waste input in river sediments.•Livestock waste contributed to coprostanol amount, interfering in sewage assessment.•Faecal sources were distinguished by PCA and Cluster analysis.•Coal mine waste interferes with the sedimentary deposition of organic markers.
Despite advances in the characterization of developmental dyslexia (DD), several questions regarding the interplay between DD-susceptibility genes and environmental risk factors remain open. This ...systematic review aimed at answering the following questions: What has been the impact of new resources on the knowledge about DD? Which questions remain open? What is the investigative agenda for the short term? Forty-six studies were analyzed. Despite the growing literature on DD candidate genes, most studies have not been replicated. We found large effects on causative genes and smaller environmental contributions, involving maternal smoking during pregnancy, SES and the DYX1C1-1259C/G marker. Implications are discussed.
Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the ...heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e.g., the role of the Approximate Number System (ANS), may help understanding the nature of MD. MD associated with ANS impairments has been described in some genetic conditions, e.g., 22q11.2 deletion syndrome (22q11.2DS or Velocardiofacial syndrome, VCFS). Recently, a girl with MD was identified in a school population screening. She has a new syndrome resulting from a microdeletion in 22q11.2 (LCR22-4 to LCR22-5), a region adjacent to but not overlapping with region 22q11.2 (LCR22-2 to LCR22-4), typically deleted in VCFS. Here, we describe her cognitive-neuropsychological and numerical-cognitive profiles. The girl was assessed twice, at 8 and 11 years. Her numerical-cognitive performance at both times was compared to demographically similar girls with normal intelligence in a single-case, quasi-experimental study. Neuropsychological assessment was normal, except for relatively minor impairments in executive functions. She presented severe and persistent difficulties in the simplest single-digit calculations. Difficulties in commutative operations improved from the first to the second assessment. Difficulties in subtraction persisted and were severe. No difficulties were observed in Arabic number writing. Difficulties in single-digit calculation co-occurred with basic numerical processing impairments in symbolic and non-symbolic (single-digit comparison, dot sets size comparison and estimation) tasks. Her difficulties suggest ANS impairment. No difficulties were detected in visuospatial/visuoconstructional and in phonological processing tasks. The main contributions of the present study are: (a) this is the first characterization of the neuropsychological phenotype in 22q11.2DS (LCR22-4 to LCR22.5) with normal intelligence; (b) mild forms of specific genetic conditions contribute to persistent MD in otherwise typical persons; (c) heterogeneity of neurogenetic underpinnings of MD is suggested by poor performance in non-symbolic numerical processing, dissociated from visuospatial/visuoconstructional and phonological impairments; (d) similar to what happens in 22q11.2DS (LCR22-2 to LCR22-4), ANS impairments may also characterize 22q11.2DS (LCR22-4 to LCR22-5).
Math anxiety (MA) seems to result from an interaction of genetic vulnerability with negative experiences learning mathematics. Although mathematics achievement does not substantially differ between ...the sexes, MA levels are usually higher in girls. Molecular genetic markers of MA vulnerability have been seldom explored. This article examines the contribution of the monoamine oxidase A gene (MAOA) to MA and to sex differences in MA. Five hundred and sixty‐eight third to fifth graders were genotyped for the MAOA‐LPR polymorphism (a repetitive element in MAOA promoter that has been associated with MAOA enzymatic activity), and assessed on general cognitive ability, mathematics achievement, and the cognitive and affective dimensions of MA. MAOA‐LPR genotypes were classified as high (MAOA‐H) or low (MAOA‐L) according to their predicted enzymatic activity. Mixed models controlling for effects of school, sex, general cognitive ability, and mathematics achievement were evaluated. The best fitting model included school, math achievement, sex, MAOA‐LPR, and the MAOA‐LPR by sex interaction. This indicated that under the MAOA‐H dominant model, anxiety toward mathematics interacted with the MAOA genotype: girls with an MAOA‐L genotype exhibited higher levels of MA, with a small but significant effect. The association between MAOA‐L genotype and MA in girls may represent an example of developmental plasticity.
Third to fifth graders self‐reported on the cognitive and affective dimensions of math anxiety (MA) and were genotyped for the MAOA‐LPR polymorphism, a repetitive element in the MAOA promoter associated with MAOA enzymatic activity. Interactions between genotype, sex, and MA were analyzed under different genetic models. Girls with the low activity (MAOA‐L), as opposed to boys and girls with the high activity (MAOA‐H) genotype, reported higher levels of affective MA.
Background
Mood disorders such as major depressive (MD) and bipolar (BD), are major risk factors for Alzheimer’s disease (AD). History of MD and BD can double the risk of developing AD in older ...adults, and this risk is even higher when depressive symptoms co‐occur with mild cognitive impairment. These evidences suggest that mood disorders and AD may share common biological mechanisms, such as genetic risk factors. However, challenges on conducting multi‐phenotype long‐follow up studies limit the direct assessment of this hypothesis. Recently, bioinformatics methods using Genome‐wide association studies (GWAS) results have been developed and applied to assess the existence of genetic overlap among disorders. Herein, we carried out a multilevel approach to investigate the genetic overlap between mood disorders (MD and BD) and AD, by assessing their genetic correlation, polygenic overlap and shared biological pathways.
Method
Summary statistics of three large GWAS for MD, BD and AD were assessed. Genetic overlap and correlation were obtained using LDSC and MiXer. ConjFDR was used to identify pleiotropic loci. Finally, a gene‐based approach was applied to obtain a list of overlapping genes and pathways for mood disorders and AD. Pathway enrichment analysis and visualization have been carried out using g:Profiler and Enrichment Map App. Each network (MD&AD, B&AD and MD&BD&AD) was visualized using Cytoscape.
Result
Positive genetic correlation among both mood disorders and AD (rG=0.162; p=0.012 for MD and rG=0.162; p=0.018 for BD&AD) was observed, and further confirmed by all approaches. TMEM106B and THSD7A were identified as pleiotropic candidate genes for MD and MTSS2, VAC14 and FAF1, for BD&AD. Important biological pathways and functions linking these disorders were highlighted, such as acute inflammatory response, programmed cell death, amyloid‐beta response, neuronal death, cell growth, respiratory electron transport chain, lipid metabolism and absorption and membrane trafficking.
Conclusion
Our results confirm for the first time the existence of genetic correlation between mood disorders and AD, identify candidate pleiotropic genes and reinforce the existence of a structured biological network among mood disorders and AD. The results obtained herein, once confirmed, may contribute to shed light on future efforts for precision medicine applied to neurodegenerative and mood disorders and their comorbidities.
Reduced bull fertility imposes economic losses in bovine herds. Specifically, testicular and spermatic traits are important indicators of reproductive efficiency. Several genome-wide association ...studies (GWAS) have identified genomic regions associated with these fertility traits. The aims of this study were as follows: 1) to perform a systematic review of GWAS results for spermatic and testicular traits in cattle and 2) to identify key functional candidate genes for these traits. The identification of functional candidate genes was performed using a systems biology approach, where genes shared between traits and studies were evaluated by a guilt by association gene prioritization (GUILDify and ToppGene software) in order to identify the best functional candidates. These candidate genes were integrated and analyzed in order to identify overlapping patterns among traits and breeds. Results showed that GWAS for testicular-related traits have been developed for beef breeds only, whereas the majority of GWAS for spermatic-related traits were conducted using dairy breeds. When comparing traits measured within the same study, the highest number of genes shared between different traits was observed, indicating a high impact of the population genetic structure and environmental effects. Several chromosomal regions were enriched for functional candidate genes associated with fertility traits. Moreover, multiple functional candidate genes were enriched for markers in a species-specific basis, taurine (Bos taurus) or indicine (Bos indicus). For the different candidate regions identified in the GWAS in the literature, functional candidate genes were detected as follows: B. Taurus chromosome X (BTX) (TEX11, IRAK, CDK16, ATP7A, ATRX, HDAC6, FMR1, L1CAM, MECP2, etc.), BTA17 (TRPV4 and DYNLL1), and BTA14 (MOS, FABP5, ZFPM2). These genes are responsible for regulating important metabolic pathways or biological processes associated with fertility, such as progression of spermatogenesis, control of ciliary activity, development of Sertoli cells, DNA integrity in spermatozoa, and homeostasis of testicular cells. This study represents the first systematic review on male fertility traits in cattle using a system biology approach to identify key candidate genes for these traits.
Microbial lipids are a valuable source of potential biofuels and essential polyunsaturated fatty acids. The optimization of the fermentation conditions is a strategy that affects the total lipid ...concentration. The genus Nigrospora sp. has been the target of investigations based on its potential bioherbicidal action. Therefore, this study developed a strategy to maximize the biomass concentration and lipid accumulation by Nigrospora sp. in submerged fermentation. Different media compositions and process variables were investigated in shaken flasks and bioreactor in batch and fed-batch modes. Maximum biomass concentration and lipid accumulations were 40.17 g/L and 21.32 wt% in the bioreactor, which was 2.1 and 5.4 times higher than the same condition in shaken flasks, respectively. This study presents relevant information to the production of fungal lipids since few investigations are exploring the fed-batch strategy to increase the yield of fungi lipids, as well as few studies investigating Nigrospora sp. to produce lipids.
Este trabalho tem como objetivo compreender, analisar e problematizar a forma como os estudos críticos do discurso (ECD) e a perspectiva da decolonialidade podem convergir para uma abordagem ...antirracista no Brasil. Para isso, o texto está dividido em dois subitens, além da introdução e das considerações finais, que apresentam os conceitos em destaque e problematizam alguns elementos importantes com relação aos mesmos. No primeiro item, apresenta-se uma breve reflexão sobre os fundamentos da produção de conhecimentos, apontando importantes contribuições e questionamentos de autores que abordam a perspectiva decolonial. Na sequência, o texto apresenta uma breve introdução aos estudos críticos do discurso (ECD), situando a relevância de sua utilização para a compreensão, abordagem e análise do racismo no Brasil. Palavras-chave: estudos críticos do discurso; decolonialidade; antirracismo. This paper aims to understand, analyze, and problematize the way in which critical discourse studies and decoloniality's perspective can converge towards an anti-racist approach to problems in Brazil. The text is divided into two sections, besides the introduction and final considerations, which present the concepts in question and problematize some of their important elements. In the first section, a brief reflection on the fundamentals of the production of knowledge is presented, presenting important contributions and issues raised by authors that approach the decolonial perspective. Following, the text presents a brief introduction to critical discourse studies, highlighting the relevance of its use for the understanding, approach and analysis of racism in Brazil. Keywords: critical discourse studies; decoloniality; anti-racism.
Este trabalho tem como objetivo compreender, analisar e problematizar a forma como os estudos críticos do discurso (ECD) e a perspectiva da decolonialidade podem convergir para uma abordagem ...antirracista no Brasil. Para isso, o texto está dividido em dois subitens, além da introdução e das considerações finais, que apresentam os conceitos em destaque e problematizam alguns elementos importantes com relação aos mesmos. No primeiro item, apresenta-se uma breve reflexão sobre os fundamentos da produção de conhecimentos, apontando importantes contribuições e questionamentos de autores que abordam a perspectiva decolonial. Na sequência, o texto apresenta uma breve introdução aos estudos críticos do discurso (ECD), situando a relevância de sua utilização para a compreensão, abordagem e análise do racismo no Brasil. Palavras-Chave: estudos críticos do discurso; decolonialidade; antirracismo.
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