A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

BACKGROUND: The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians. METHODS: In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells. RESULTS: The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of α-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed. CONCLUSION: A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

<p>Abstract</p> <p>Background</p> <p>Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in <it>dentin sialophosphoprotein </it>(<it>DSPP</it>). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China.</p> <p>Methods</p> <p>We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking <it>DSPP </it>gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family.</p> <p>Results</p> <p>All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A→G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals.</p> <p>Conclusion</p> <p>This study identified a novel mutation (IVS3+3A→G) in <it>DSPP</it>, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.</p

Molecular structure of the largemouth bass (Micropterus salmoides) Myf5 gene and its effect on skeletal muscle growth

Myogenic Regulatory Factors (MRFs), a family of basic helix-loop-helix (bHLH) transcription factors, play important roles in regulating skeletal muscle development and growth. Myf5, the primary factor of MRFs, initiates myogenesis. Its expression pattern during somitomyogenesis in some fish has been revealed. To further study its effect on fish muscle during postembryonic growth, characterization and function analysis of myf5 cDNA were carried out in largemouth bass. The 1,093 bp cDNA sequence was identified by RT-PCR and 3′RACE, then the ORF of Myf5 cDNA was cloned into the expression vector pcDNA3.1(−)/mycHisB. The recombinant plasmid pcDNA3.1(−)/mycHisB-Myf5 was injected into the dorsal muscle of tilapias. RT-PCR and histochemical results showed that the exogenous gene was transcribed and translated in vivo. Its effect on muscle growth focused on myofiber hypertrophy in white muscle 60 days post injection. This indicated that overexpression of Myf5 can promote myogenesis during the fish muscle postembryonic growth period

Conducting polymer nanocomposite-based supercapacitors

The use of nanocomposites of electronically-conducting polymers for supercapacitors has increased significantly over the past years, due to their high capacitances and abilities to withstand many charge-discharge cycles. We have recently been investigating the use of nanocomposites of electronically-conducting polymers containing conducting and non-conducting nanomaterials such as carbon nanotubes and cellulose nanocrystals, for use in supercapacitors. In this contribution, we provide a summary of some of the key issues in this area of research. This discussion includes some history, fundamental concepts, the physical and chemical processes involved, and the challenges that these nanocomposite materials must overcome in order to become technologically viable. Due to space limitations, this is not a complete review of all the work that has been done in this field and we have focused on common themes that appear in the published work. Our aim is that this chapter will help readers to understand the advantages and challenges involved in the use of these materials in supercapacitors and to identify areas for further development

Market opportunities do not explain the ability of herders to meet livelihood objectives over winter on the Mongolian Plateau

Drylands under pastoral land use are considered one of the most vulnerable social-ecological systems to global climate change, but the abilities of different adaptive strategies to adapt to the impacts of different extreme weather events on herders’ livelihood have received little attention in the drylands. Herders on the Mongolian Plateau (MP; including Inner Mongolia Autonomous Region of China and Mongolia), have had a long history of adapting climatic variability and extreme weather events. However, it is unclear how changes such as increased levels of infrastructure and market integration affect the ability of herders to achieve the two key livelihood objectives: the minimisation of the death and abortion rates of livestock in the winter. Here, we used remotely sensed and household survey data to map, model and explore the climate exposure and sensitivity of herders in the settled area (Inner Mongolia of China) and nomadic area (Mongolia) in the winter of 2012–2013. We aimed to quantify the multi-scaled characteristics of both climate exposure and sensitivity through the lens of key adaptive strategies utilized by herders. Our results showed that the higher levels of infrastructure and market integration, and the lower levels of remoteness on the MP did not increase the herders' ability to achieve the two key livelihood objectives. Our results also suggested that exposure to the snow that is comparatively greater than the long-term average (cumulative exposure) may be more important in determining the social-ecological vulnerability than absolute exposure. We suggested that neither the risk management strategies available to these herders, nor the demographic variables, could compensate for the mode of production governing the pastoral systems. Our study could provide further evidence for the complex and scaled nature of climate exposure and sensitivity, and the results imply that any analysis of the relationship between exposure, sensitivity and vulnerability of pastoral households to climate change in the drylands will require a multi-scaled and interdisciplinary approach

Distributions and Sources of Polycyclic Aromatic Hydrocarbons (PAHs) in Soils around a Chemical Plant in Shanxi, China

Background: Yearly the Shanxi coal chemical industry extracts many coal resources, producing at the same time many polycyclic aromatic hydrocarbons (PAHs) that are emitted as by-products of coal incomplete combustion. Methods: Sixty-six soil samples collected from 0 to 100 cm vertical sections of three different agricultural (AS), roadside (RS) and park (PS) functional soils around a chemical plant in Shanxi, China were analyzed for the presence of the 16 priority control PAHs. Results: The total concentrations (∑16PAHs) varied in a range of 35.4–116 mg/kg, 5.93–66.5 mg/kg and 3.87–76.0 mg/kg for the RS, PS and AS surface soil, respectively, and 5-ring PAHs were found to be dominant (44.4–49.0%), followed by 4-ring PAHs (15.9–24.5%). Moreover, the average value of ∑16PAHs decreased with the depth, 7.87 mg/kg (0–25 cm), 4.29 mg/kg (25–50 cm), 3.00 mg/kg (50–75 cm), 2.64 mg/kg (75–100 cm) respectively, in PS and AS soil vertical sections. Conclusions: The PAH levels in the studied soils were the serious contamination level (over 1.00 mg/kg) according to the Soils Quality Guidelines. The carcinogenic PAHs (ΣBPAHsBapeq) were approximately 14.8 times higher than the standard guideline level (0.60 mg/kg) and 90.3% of PAHs were produced by coal/wood/grass combustion processes

Petroleum systems and resource potential in Sverdrup Basin, Arctic

The Sverdrup Basin is one of the important petroliferous basins in the Arctic. It has abundant oil and gas resources, but the exploration degree is relatively low. Based on the IHS database and literatures in the public domain, this paper documented the geological characteristics and distribution of oil and gas in the Sverdrup Basin, and classified the petroleum systems and hydrocarbon plays in the basin. The undiscovered hydrocarbons were eventually assessed by Monte Carlo simulation and the favorable exploration areas were predicted. The investigation results show that the discovered oil and gas accumulations are mainly distributed in the western area of the basin, which consists of Sabin and Edinburgh sub-basins. Oil and gas are mainly reserved in the Jurassic and Triassic clastic reservoirs. Two petroleum systems, which are the Paleozoic and Mesozoic systems, were identified in the basin. The Mesozoic petroleum system has a far greater exploration potential. Undiscovered recoverable reserves (mean value) in the Mesozoic petroleum system are 474.81 MMbbl (1 MMbbl=1×106 bbl, 1 bbl=0.137 t) of oil, 13 620.82 Bcf (1 Bcf=1×109 ft3, 1 ft3=0.028 3 m3) of natural gas and 63.66 MMbbl of condensate, amounting to 2 808.61 MMboe (3.85×108 t), of which the natural gas accounts for 80.82%. The Lower Jurassic structural hydrocarbon play in the western area of the basin, the Upper Triassic-Lower Jurassic structural hydrocarbon play in the Edinburgh sub-basin and the Upper Jurassic structural hydrocarbon play in the Sabine sub-basin are the most promising exploration areas

Polycyclic Aromatic Hydrocarbons in the Dagang Oilfield (China): Distribution, Sources, and Risk Assessment

The levels of 16 polycyclic aromatic hydrocarbons (PAHs) were investigated in 27 upper layer (0–25 cm) soil samples collected from the Dagang Oilfield (China) in April 2013 to estimate their distribution, possible sources, and potential risks posed. The total concentrations of PAHs (∑PAHs) varied between 103.6 µg·kg−1 and 5872 µg·kg−1, with a mean concentration of 919.8 µg·kg−1; increased concentrations were noted along a gradient from arable desert soil (mean 343.5 µg·kg−1), to oil well areas (mean of 627.3 µg·kg−1), to urban and residential zones (mean of 1856 µg·kg−1). Diagnostic ratios showed diverse source of PAHs, including petroleum, liquid fossil fuels, and biomass combustion sources. Combustion sources were most significant for PAHs in arable desert soils and residential zones, while petroleum sources were a significant source of PAHs in oilfield areas. Based ontheir carcinogenity, PAHs were classified as carcinogenic (B) or not classified/non-carcinogenic (NB). The total concentrations of carcinogenic PAHs (∑BPAHs) varied from 13.3 µg·kg−1 to 4397 µg·kg−1 across all samples, with a mean concentration of 594.4 µg·kg−1. The results suggest that oilfield soil is subject to a certain level of ecological environment risk

DataSheet1_Bidirectional causal link between inflammatory bowel disease and celiac disease: A two-sample mendelian randomization analysis.PDF

Background: Observational research has shown a correlation between inflammatory bowel disease (IBD) [comprising ulcerative colitis (UC) and Crohn’s disease (CD)] and celiac disease. However, the relationship between these two diseases remains uncertain.Methods: We utilized two-sample Mendelian randomization (MR) to estimate the bidirectional causal relationships between IBD and celiac disease. This study utilized data on single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWASs). Heterogeneity, pleiotropy, and sensitivity analyses were also performed to evaluate the MR results.Results: There was a significant causal relationship between IBD and CD and celiac disease (e.g., IBD and celiac disease, inverse variance weighting (IVW) odds ratio (OR) = 1.0828, 95% CI = 1.0258–1.1428, p = 0.0039; CD and celiac disease, IVW OR = 1.0807, 95% CI = 1.0227–1.1420, p = 0.0058). However, in the reverse direction, we found only suggestive positive causality between celiac disease and CD (e.g., IVW OR = 1.0366, 95% CI = 1.0031–1.0711, p = 0.0319). No evidence of heterogeneity between genetic variants was found (e.g., IBD vs. celiac disease, MR-Egger Q = 47.4391, p = 0.6159). Horizontal pleiotropy hardly influenced causality (e.g., IBD vs. celiac disease, MR-Egger test: p = 0.4340). Leave-one-out analysis showed that individual SNPs did not influence the general results.Conclusion: Our MR analysis revealed a positive causal link between IBD and celiac disease in the European population. In addition, several recommendations for disease prevention and clinical management have been discussed.</p