Different WDR36 Mutation Pattern in Chinese Patients with Primary Open-angle Glaucoma

Purpose: To determine the distribution of WD repeat domain 36 (WDR36) sequence variants in Chinese patients with primary open-angle glaucoma (POAG). Methods: One hundred and thirty-five unrelated POAG patients (82 high tension glaucoma [HTG], 42 normal tension glaucoma [NTG], and 11 juvenile-onset POAG [JOAG] patients) and 77 unrelated controls were recruited. All 23 coding exons and splicing junctions of WDR36 were sequenced using BigDye® Terminator v3.1 cycle sequencing kit. Single nucleotide polymorphism (SNP) and haplotype associations were analyzed using PLINK (version 1.04). Results: Nineteen sequence alterations were identified, and eight of them were novel including two novel nonsynonymous SNPs (L240V and I713V). Except the common I264V polymorphism, no other previously reported disease-causing or disease-susceptibility mutations were found. The novel I713V mutation was observed in three (3.7%) patients with HTG. One intronic SNP, IVS5+30C>T (rs10038177), showed significantly higher frequency of minor allele T in HTG patients (16.5%) than in controls (1.3%; Odds ratio [OR]=15.0, p=7.9×10−7, Bonferroni corrected p=1.5×10−5). Haplotype GTA, which is composed of rs13153937, rs10038177, and rs11241095, was significantly associated with HTG (OR=22.5, p=0.002, Bonferroni corrected p=0.013). Neither the individual SNPs nor haplotypes of WDR36 were associated with NTG or JOAG (Bonferroni corrected p>0.05). Conclusions: Findings in this study suggest WDR36 to be associated with sporadic HTG but not with NTG or JOAG. Our results also suggest a different mutation pattern of WDR36 in the Chinese population from other ethnic populations

AC and AG Dinucleotide Repeats in the PAX6 P1 Promoter are Associated with High Myopia

Purpose: The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls. Methods: High myopia patients had refractive errors of –6.00 diopters or greater and axial length longer than 26 mm. Control subjects had refractive errors less than –1.00 diopter and axial length shorter than 24 mm. The P1 promoter, all coding sequences, and adjacent splice-site regions of the PAX6 gene were screened in all study subjects by polymerase chain reaction and direct sequencing. PAX6 P1 promoter-luciferase constructs with variable AC and AG repeat lengths were prepared and transfected into human ARPE-19 cells prior to assaying for their transcriptional activities. Results: No sequence alterations in the coding or splicing regions showed an association with high myopia. Two dinucleotide repeats, (AC)m and (AG)n, in the P1 promoter region were found to be highly polymorphic and significantly associated with high myopia. Higher repeat numbers were observed in high myopia patients for both (AC)m (empirical p = 0.013) and (AG)n (empirical p = 0.012) dinucleotide polymorphisms, with a 1.327-fold increased risk associated with the (AG)n repeat (empirical p = 0.016; 95% confidence interval: 1.059–1.663). Luciferase-reporter analysis showed elevated transcription activity with increasing individual (AC)m and (AG)n and combined (AC)m(AG)n repeat lengths. Conclusions: Our results revealed an association between high myopia and AC and AG dinucleotide repeat lengths in the PAX6 P1 promoter, indicating the involvement of PAX6 in the pathogenesis of high myopia

Optical Phase Conjugation Conversion through a Nonlinear Bidirectional Semiconductor Optical Amplifier Configuration

The optical phase conjugation (OPC) process is thoughtfully investigated in a nonlinear bidirectional semiconductor optical amplifier subsystem (SOA), demonstrating the conjugation conversion through the two ports of the SOA, simultaneously. The spectral responses, the nonlinear power curves and the quality optimization of the conjugated are discussed through the simulation in nonlinear bidirectional configuration. The experimental investigation of the polarization-insensitive SOA further confirms the OPC behavior in the bidirectional operation, achieving the error-free conjugation conversion with an output optical signal-to-noise ratio (OSNR) of up to 16 dB. The nonlinear bidirectional SOA configuration tested in the system relaxes the requirement of the conventional four-wave mixing (FWM), enabling the OPC conversion with the signal regeneration in only one unit

Adsorption of Phenol and <i>p</i>‑Nitrophenol from Aqueous Solutions on Metal–Organic Frameworks: Effect of Hydrogen Bonding

Three metal–organic frameworks (MOFs), MIL-100­(Fe, Cr) and NH₂-MIL-101­(Al), were prepared, and their adsorption equilibria for phenol and <i>p</i>-nitrophenol (PNP) from water were investigated. All three MOFs show similar and limited adsorption capacities for phenol, but NH₂-MIL-101­(Al) reveals exceptional adsorption capacity for PNP, greatly exceeding those of MIL-100­(Fe, Cr). MIL-100­(Fe, Cr) possess similar adsorption affinity for phenol and PNP, which suggests that the effect of metal ions and the coordinatively unsaturated sites in MOFs show negligible effect for phenol and PNP adsorption from water. NH₂-MIL-101­(Al) exhibits superior adsorption capacity for PNP and uniquely higher adsorption selectivity for PNP over phenol than a benchmark activated carbon. The remarkable adsorption affinity is attributed to the hydrogen bonding between PNP and the amino groups in NH₂-MIL-101­(Al). Phenol and PNP displayed a fast adsorption kinetics on NH₂-MIL-101­(Al) and followed a pseudo-second-order kinetic model. This work highlights that introducing functional groups into MOFs through an organic linker is a promising way to tailor MOFs for aqueous adsorption and separation

Comparative Mapping and Candidate Gene Analysis of SSIIa Associated with Grain Amylopectin Content in Barley (Hordeum vulgare L.)

Amylopectin concentration in barley endosperm has important effects on grain quality and end-use. In this study, quantitative trait locus (QTL) analysis together with genome-wide association studies (GWAS) were performed to identify markers linked to grain amylopectin content respectively using a doubled haploid (DH) population of 178 lines and a collection of 185 diverse barley germplasms both genotyped by genotyping-by-sequencing (GBS). A stable QTL on chromosome 7H and 11 associated single nucleotide polymorphisms (SNPs) were detected. In the co-localized region, the SSIIa (SSII-3) gene was predicted as the candidate gene. Then we isolated and characterized biparental SSIIa alleles of the DH population, investigated the expression pattern by quantitative real-time PCR (qRT-PCR), and revealed that a 33-bp deletion in exon 2 is responsible for reducing SSIIa transcript, thus resulting in a reduced amylopectin content. A sequence-based molecular marker was developed for the SSIIa allele and validated the effectivity, which would provide help for barley breeding

Geological characteristics and models of fault-fold-fracture body in deep tight sandstone of the second member of Upper Triassic Xujiahe Formation in Xinchang structural belt of Sichuan Basin, SW China

In the second member of the Upper Triassic Xujiahe Formation (T3x2) in the Xinchang area, western Sichuan Basin, only a low percent of reserves has been recovered, and the geological model of gas reservoir sweet spot remains unclear. Based on a large number of core, field outcrop, test and logging-seismic data, the T3x2 gas reservoir in the Xinchang area is examined. The concept of fault-fold-fracture body (FFFB) is proposed, and its types are recognized. The main factors controlling fracture development are identified, and the geological models of FFFB are established. FFFB refers to faults, folds and associated fractures reservoirs. According to the characteristics and genesis, FFFBs can be divided into three types: fault-fracture body, fold-fracture body, and fault-fold body. In the hanging wall of the fault, the closer to the fault, the more developed the effective fractures; the greater the fold amplitude and the closer to the fold hinge plane, the more developed the effective fractures. Two types of geological models of FFFB are established: fault-fold fracture, and matrix storage and permeability. The former can be divided into two subtypes: network fracture, and single structural fracture, and the later can be divided into three subtypes: bedding fracture, low permeability pore, and extremely low permeability pore. The process for evaluating favorable FFFB zones was formed to define favorable development targets and support the well deployment for purpose of high production. The study results provide a reference for the exploration and development of deep tight sandstone oil and gas reservoirs in China

Direct Benzothiophene Formation via Oxygen-Triggered Intermolecular Cyclization of Thiophenols and Alkynes Assisted by Manganese/PhCOOH

An intermolecular oxidative cyclization between thiophenols and alkynes for benzothiophene formation has been established. A variety of multifunctional benzothiophenes are synthesized. In addition, we demonstrated that the obtained benzothiophenes can be used for further transformation to give diverse benzothiophene derivatives efficiently and selectively