A Human-Specific <i>De Novo</i> Protein-Coding Gene Associated with Human Brain Functions

To understand whether any human-specific new genes may be associated with human brain functions, we computationally screened the genetic vulnerable factors identified through Genome-Wide Association Studies and linkage analyses of nicotine addiction and found one human-specific de novo protein-coding gene, FLJ33706 (alternative gene symbol C20orf203). Cross-species analysis revealed interesting evolutionary paths of how this gene had originated from noncoding DNA sequences: insertion of repeat elements especially Alu contributed to the formation of the first coding exon and six standard splice junctions on the branch leading to humans and chimpanzees, and two subsequent substitutions in the human lineage escaped two stop codons and created an open reading frame of 194 amino acids. We experimentally verified FLJ33706's mRNA and protein expression in the brain. Real-Time PCR in multiple tissues demonstrated that FLJ33706 was most abundantly expressed in brain. Human polymorphism data suggested that FLJ33706 encodes a protein under purifying selection. A specifically designed antibody detected its protein expression across human cortex, cerebellum and midbrain. Immunohistochemistry study in normal human brain cortex revealed the localization of FLJ33706 protein in neurons. Elevated expressions of FLJ33706 were detected in Alzheimer's brain samples, suggesting the role of this novel gene in human-specific pathogenesis of Alzheimer's disease. FLJ33706 provided the strongest evidence so far that human-specific de novo genes can have protein-coding potential and differential protein expression, and be involved in human brain functions.</p

A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions

To understand whether any human-specific new genes may be associated with human brain functions, we computationally screened the genetic vulnerable factors identified through Genome-Wide Association Studies and linkage analyses of nicotine addiction and found one human-specific de novo protein-coding gene, FLJ33706 (alternative gene symbol C20orf203). Cross-species analysis revealed interesting evolutionary paths of how this gene had originated from noncoding DNA sequences: insertion of repeat elements especially Alu contributed to the formation of the first coding exon and six standard splice junctions on the branch leading to humans and chimpanzees, and two subsequent substitutions in the human lineage escaped two stop codons and created an open reading frame of 194 amino acids. We experimentally verified FLJ33706's mRNA and protein expression in the brain. Real-Time PCR in multiple tissues demonstrated that FLJ33706 was most abundantly expressed in brain. Human polymorphism data suggested that FLJ33706 encodes a protein under purifying selection. A specifically designed antibody detected its protein expression across human cortex, cerebellum and midbrain. Immunohistochemistry study in normal human brain cortex revealed the localization of FLJ33706 protein in neurons. Elevated expressions of FLJ33706 were detected in Alzheimer's brain samples, suggesting the role of this novel gene in human-specific pathogenesis of Alzheimer's disease. FLJ33706 provided the strongest evidence so far that human-specific de novo genes can have protein-coding potential and differential protein expression, and be involved in human brain functions

Primary hepatic myopericytoma coexisting with multiple cystic hepatic lesions: a case report

Abstract Background Hepatic myopericytoma (MPC) is an extremely rare pathological entity in the liver. Conversely, cystic hepatic lesions are a group of heterogeneous lesions encountered commonly in daily practice. Here, we report a unique case of the coexistence of primary hepatic MPC and multiple cystic hepatic lesions along with our perceptions on its diagnosis and treatment. Case presentation A 56-year-old female patient was found to have a left liver mass during a routine physical examination. Computer tomography (CT) and magnetic resonance imaging (MRI) confirmed the existence of a left hepatic neoplasm along with multiple hepatic cysts but could not exclude the possible malignant nature of the neoplasm. Computer tomography (CT) also identified an enlarged mediastinal lymph node with a maximum diameter of 4.3 cm, which further underwent core needle biopsy under CT guidance. A histopathological examination was performed to rule out malignancy. Afterwards, the patient underwent left hemihepatectomy to resect a solid tumor of 5.5 cm × 5 cm × 4.7 cm with multiple cystic lesions which were histopathologically examined to establish the diagnosis of myopericytoma with hepatic cysts. Postoperatively, the patient recovered from the surgery quickly without significant adverse events and was not found to have a reoccurrence of the primary pathological entity. Conclusions This is the first reported case of a patient with the co-existence of primary hepatic myopericytoma and multiple cystic hepatic lesions undergoing surgical treatment with eventual recovery

Effect of mixed inhibitor application on N2O production pathways in paddy soil

Purpose In flooded paddy soils, quantifying and discerning nitrous oxide (N2O) production by four biological pathways (nitrifier nitrification (NN), nitrifier denitrification (ND), nitrification-coupled denitrification (NCD), and heterotrophic denitrification (HD)) are essential for developing innovative strategies to mitigate the greenhouse effect. Materials and methods Soils were collected from Shenyang Experimental Station of the Institute of Applied Ecology, Liaoning Province, China, and were sealed and incubated in the dark at 25 degrees C and submerged for 48 h. The amount of N2O produced by each of the four pathways and the abundance of corresponding functional genes were determined by dual-isotope (N-15-O-18) labeling technique combined with quantitative PCR (qPCR). Results and discussion In our incubation experiment, N-15 isotope tracing showed that not urea but paddy soil was the largest contributor of N2O within 48 h after urea application. Combined application of urea and mixed inhibitors (N-(n-butyl) thiophosphoric triamide (NBPT) + phenylphosphorodiamidate (PPD) + 3,4-dimethylpyrazole phosphate (DMPP)) could reduce total N2O production by 26.69%. Through dual-isotope (O-18-N-15) labeling technology, it was found that N2O production mainly came from HD pathway, accounting for 77% of total N2O production, and N2O produced by ammonia oxidation (NN, ND, and NCD) after urea application accounted for 23% of total N2O production. The largest proportion of N2O production among the ammonia oxidation pathways was the ND pathway (0-23.00%), followed by the NN pathway (0-19.21%) and NCD pathway (0-3.79%). Application of mixed inhibitors significantly reduced the N2O produced by the HD pathway by more than 15%; reduced the N2O produced by the ammonia oxidation pathway from 23.00 to 10.39%; and reduced the N2O produced by the NN, ND, and NCD pathways by more than 50%. This is probably caused by the decreased ammonium level and reduced gene copies of AOB amoA, narG, and nirK, which are key N2O producing genes. Conclusions Incubation experiment showed that ammonia oxidation pathway is also an important pathway for N2O production in flooded paddy soil. Mixed inhibitors have inhibitory effects on N2O produced by NN, ND, NCD, and HD pathways. The future development of mixed inhibitor application strategies suitable for paddy fields is of great significance for mitigating the global greenhouse effect

Opposite Root Morphological Responses of Chinese Cabbage to Poly-γ-glutamic Acid When Applied with Urea and Ammonium Sulphate

Poly-γ-glutamic acid (γ-PGA) significantly promotes the fertilizer N uptake efficiency of crops and evidently affects soil available N (nitrate, ammonium and glutamate) status. As an adaptive strategy to forage N, root morphology responds variably to soil available N dynamics. Detailed knowledge of how root morphology responds to γ-PGA remains unexplored. A pot trial was conducted to investigate the response of root morphological traits to γ-PGA when applied with CO(NH2)2 or (NH4)2SO4. The results showed that γ-PGA significantly improved the dry weight, total carbon and total nitrogen content of roots, and with a higher improvement with CO(NH2)2 compared to (NH4)2SO4. γ-PGA significantly increased the root length, total surface area, tips and forks with CO(NH2)2. Contrarily, γ-PGA significantly reduced root length, specific root length, specific root area, root volume, tips and forks with (NH4)2SO4, with its inhibition on root growth mainly caused by the high ammonium content in soil. In conclusion, γ-PGA gives opposite effects on root morphological traits when applied with CO(NH2)2 or (NH4)2SO4. This finding provides a new insight to reveal the promotion mechanism of γ-PGA on plant N acquisition in the rhizosphere and offers a practical reference for optimizing γ-PGA and fertilizer application management