Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene

Otitis media is a middle ear disease common in children under three years old. Otitis media can occur in normal individuals with no other symptoms or syndromes, but it is often seen in individuals clinically diagnosed with genetic diseases such as CHARGE syndrome, a complex genetic disease caused by mutation in the Chd7 gene and characterized by multiple birth defects. Although otitis media is common in human CHARGE syndrome patients, it has not been reported in mouse models of CHARGE syndrome. In this study, we report a mouse model with a spontaneous deletion mutation in the Chd7 gene and with chronic otitis media of early onset age accompanied by hearing loss. These mice also exhibit morphological alteration in the Eustachian tubes, dysregulation of epithelial proliferation, and decreased density of middle ear cilia. Gene expression profiling revealed up-regulation of Muc5ac, Muc5b and Tgf-β1 transcripts, the products of which are involved in mucin production and TGF pathway regulation. This is the first mouse model of CHARGE syndrome reported to show otitis media with effusion and it will be valuable for studying the etiology of otitis media and other symptoms in CHARGE syndrome

Cloning, annotation and developmental expression of the chicken intestinal MUC2 gene

Intestinal mucin 2 (MUC2) encodes a heavily glycosylated, gel-forming mucin, which creates an important protective mucosal layer along the gastrointestinal tract in humans and other species. This first line of defense guards against attacks from microorganisms and is integral to the innate immune system. As a first step towards characterizing the innate immune response of MUC2 in different species, we report the cloning of a full-length, 11,359 bp chicken MUC2cDNA, and describe the genomic organization and functional annotation of this complex, 74.5 kb locus. MUC2 contains 64 exons and demonstrates distinct spatiotemporal expression profiles throughout development in the gastrointestinal tract; expression increases with gestational age and from anterior to posterior along the gut. The chicken protein has a similar domain organization as the human orthologue, with a signal peptide and several von Willebrand domains in the N-terminus and the characteristic cystine knot at the C-terminus. The PTS domain of the chicken MUC2 protein spans ~1600 amino acids and is interspersed with four CysD motifs. However, the PTS domain in the chicken diverges significantly from the human orthologue; although the chicken domain is shorter, the repetitive unit is 69 amino acids in length, which is three times longer than the human. The amino acid composition shows very little similarity to the human motif, which potentially contributes to differences in the innate immune response between species, as glycosylation across this rapidly evolving domain provides much of the musical barrier. Future studies of the function of MUC2 in the innate immune response system in chicken could provide an important model organism to increase our understanding of the biological significance of MUC2 in host defense and highlight the potential of the chicken for creating new immune-based therapies

Bovine Host Genetic Variation Influences Rumen Microbial Methane Production with Best Selection Criterion for Low Methane Emitting and Efficiently Feed Converting Hosts based on Metagenomic Gene Abundance

Methane produced by methanogenic archaea in ruminants contributes significantly to anthropogenic greenhouse gas emissions. The host genetic link controlling microbial methane production is unknown and appropriate genetic selection strategies are not developed. We used sire progeny group differences to estimate the host genetic influence on rumen microbial methane production in a factorial experiment consisting of crossbred breed types and diets. Rumen metagenomic profiling was undertaken to investigate links between microbial genes and methane emissions or feed conversion efficiency. Sire progeny groups differed significantly in their methane emissions measured in respiration chambers. Ranking of the sire progeny groups based on methane emissions or relative archaeal abundance was consistent overall and within diet, suggesting that archaeal abundance in ruminal digesta is under host genetic control and can be used to genetically select animals without measuring methane directly. In the metagenomic analysis of rumen contents, we identified 3970 microbial genes of which 20 and 49 genes were significantly associated with methane emissions and feed conversion efficiency respectively. These explained 81% and 86% of the respective variation and were clustered in distinct functional gene networks. Methanogenesis genes (e.g. mcrA and fmdB) were associated with methane emissions, whilst host-microbiome cross talk genes (e.g. TSTA3 and FucI) were associated with feed conversion efficiency. These results strengthen the idea that the host animal controls its own microbiota to a significant extent and open up the implementation of effective breeding strategies using rumen microbial gene abundance as a predictor for difficult-to-measure traits on a large number of hosts. Generally, the results provide a proof of principle to use the relative abundance of microbial genes in the gastrointestinal tract of different species to predict their influence on traits e.g. human metabolism, health and behaviour, as well as to understand the genetic link between host and microbiome

Composition of abomasal mucins in hair goats

The mucosal epithelium of the digestive tract is covered by a layer of mucusthat protects against chemical, enzymatic and mechanical damage, and pathogenic microorganisms. We investigated the composition of the mucin in the abomasum of goat kids using histochemistry and immunohistochemistry. We used 6 - 8-month-old goat kids; samples were collected from the cardia, fundus and pylorus regions of the abomasum. Alcian blue (pH.2.5)-PAS, Alcian blue (pH.2.5)-aldehyde fuchsin, phenylhydrazine-PAS histochemical staining methods were used as well as Muc1, Muc2, Muc5ac and Muc6 immunohistochemistry. We found that neutral mucins, carboxylic mucins and N-acetyl sialomucins were present in the stomachs of the kids. Muc1 was expressed in all glandular epithelium cells and was expressed intensely by the mucous neck cells in the fundus. Although Muc2 expression was not observed in the cardia and fundus, weak expression was found in the surface epithelial cells and mucus secreting cells of the pylorus. Muc5ac was expressed intensely in all glandular epithelial cells and in mucous neck cells of the fundus as well as mucus secreting cells in the pylorus. Moderately intense Muc6 expression also was found in the cardia and fundus; it was expressed intensely in the mucus secreting cells of the pylorus.Scientific Research Council of Siirt University [2017-SIUVET 06]Our research was supported financially by the Scientific Research Council of Siirt University [Project No. 2017-SIUVET 06]

Personality, perceived luck and gambling attitudes as predictors of gambling involvement

A quantitative observational study was undertaken to examine the relationship between individual factors and level of gambling involvement, in particular problem gambling (PG). The specific factors under study were personality, perceived luck, and attitudes towards gambling. A sample of university students (N = 185) completed a battery of questionnaires, consisting of the 16PF, Canadian Problem Gambling Index, Belief in Good Luck Scale (BIGL), Gambling Attitudes Scale (GAS), and the Impulsive Non-Conformity subscale (ImpNon) from the Oxford-Liverpool Inventory of Feelings and Experiences. Four groups were formed (Non-PG, Low-Risk, Moderate-Risk, and PG). Personality profiles varied between groups, and there were significant main effects and interaction effects on gender and personality factors. The PG group was higher on impulsivity, and belief in luck, and had more positive attitudes towards gambling. Multiple Regression Analysis and Discriminant Functions Analysis, using variables including some 16PF factors, BIGL and GAS variables, produced models that were highly predictive of gambling severity and gambling membership. In both models, impulsivity was the strongest predictor. These results were discussed in terms of their implications for future research and treatment of PG.Jamie Chiu and Lance Stor