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https://www.readbyqxmd.com/read/29158168/identification-and-functional-analysis-of-a-novel-mutation-in-the-pax3-gene-associated-with-waardenburg-syndrome-type-i
#1
Zhijie Niu, Jiada Li, Fen Tang, Jie Sun, Xueping Wang, Lu Jiang, Lingyun Mei, Hongsheng Chen, Yalan Liu, Xinzhang Cai, Yong Feng, Chufeng He
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p.R270G) in a three-generation Chinese family with WS1, and then analyzed its in vitro activities. The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29158167/clc-3-chloride-channel-is-involved-in-isoprenaline-induced-cardiac-hypertrophy
#2
Chunmei Li, Dan Huang, Jing Tang, Mengqing Chen, Qun Lu, He Li, Mengzhen Zhang, Bin Xu, Jianwen Mao
Isoprenaline, an activator of β-adrenergic receptor, has been found to induce cardiac hypertrophy in vivo and in vitro, but the exact mechanism is still unclear. ClC-3 is a member of the chloride channel family and is highly expressed in mammalian myocardium. In the present study, the role of ClC-3 in isopronaline-induced cardiac hypertrophy was investigated. We found that ClC-3 expression was reduced in isoprenaline-induced hypertrophic H9c2 cells, primary rat neonatal cardiomyocytes and myocardium of C57/BL/6 mice, and this reduction was prevented by the pretreatment of propranolol...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29158166/the-association-between-caspase-5-gene-polymorphisms-and-rheumatoid-arthritis-in-a-chinese-population
#3
Huan Rui, Ting Yan, Zhiyong Hu, Ruiping Liu, Liqun Wang
Genetic factors are widely recognized to have a substantial effect on the susceptibility to rheumatoid arthritis (RA). We examined the contribution of caspase-5 (CASP5) gene polymorphisms to RA risk in a Chinese population. We conducted a case-control study involving 500 RA patients and 500 controls and performed co-expression analysis to identify genes associated with CASP5. We attempted to analyze the functions of these genes by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. We carried out genotyping using a custom-by-design 48-Plex SNP (single nucleotide polymorphism) Scan™ Kit...
November 17, 2017: Gene
https://www.readbyqxmd.com/read/29155332/unusual-features-of-the-large-linear-plasmid-psa3239-from-streptomyces-aureofaciens-ccm-3239
#4
Erik Mingyar, Renata Novakova, Renata Knirschova, Lubomira Feckova, Carmen Bekeova, Jan Kormanec
We previously identified the aur1 gene cluster, responsible for the production of the angucycline antibiotic auricin in Streptomyces aureofaciens CCM 3239. Pulse-field gel electrophoresis showed a single, 241kb linear plasmid, pSA3239, in this strain, and several approaches confirmed the presence of the aur1 cluster in this plasmid. We report here the nucleotide sequence of this 241,076-bp plasmid. pSA3239 contains an unprecedentedly small (13bp) telomeric sequence CCCGCGGAGCGGG, which is identical to the conserved Palindrome I sequence involved in the priming of end-patching replication...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155331/evolution-of-vomeronasal-receptor-1-v1r-genes-in-the-common-marmoset-callithrix-jacchus
#5
Keiko Moriya-Ito, Takashi Hayakawa, Hikoyu Suzuki, Kimiko Hagino-Yamagishi, Masato Nikaido
Pheromones are crucial for eliciting innate responses and inducing social and sexual behaviors in mammals. The vomeronasal receptor 1 genes, V1Rs, encode members of a pheromone receptor family that are mainly expressed in the vomeronasal organ (VNO). The V1R family shows extraordinary variety in gene number among vertebrates owing to successive gene gains and losses during evolution. Such diversity is believed to reflect a degree of dependence on the VNO. We investigated V1R evolution in primate lineages closely related to humans because these VNOs show a trend toward degeneration...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155330/expression-pattern-and-functional-analysis-of-r-spondin1-in-tongue-sole-cynoglossus-semilaevis
#6
Jinxiang Liu, Tiantian Liu, Jingjing Niu, Xiaolong Wu, Jieming Zhai, Quanqi Zhang, Jie Qi
R-spondin 1 (Rspo1) is a potential female-determining gene in mammals that could regulate the Wnt/β-catenin signaling pathway. The deletion of Rspo1 causes sex reversal in females. To investigate sexual determination and differentiation, we cloned and analyzed the Rspo1 gene in Cynoglossus semilaevis. Phylogenetic and gene structure analyses revealed that Rspo1 gene exhibited high sequence conservation and contained an N-terminal signal peptide, two furin-like cysteine-rich domains (FU1 and FU2), a thrombospondin type 1 repeat, and a C-terminal region enriched with basic charged amino acids...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155329/cloning-and-characterization-of-two-novel-%C3%AE-glucosidase-genes-encoding-isoenzymes-of-the-cellobiase-complex-from-cellulomonas-biazotea
#7
Anthony K N Chan, Alan K L Ng, Kate K Y Ng, W K R Wong
Enzymatic degradation of cellulosic waste to generate renewable biofuels has offered an attractive solution to the energy problem. Synergistic hydrolysis of cellulose residues requires the participation of three different types of cellulases - endoglucanases, exoglucanases, and β-glucosidases (Bgl). Our group has been interested in using Bgl of Cellulomonas biazotea in studies designed to investigate cooperative action among different cellulases. We previously have cloned bgl genes encoding Cba and Cba3, which are C...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#8
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155327/expression-profiles-of-the-p38-mapk-signaling-pathway-from-chinese-shrimp-fenneropenaeus-chinensis-in-response-to-viral-and-bacterial-infections
#9
Yuying He, Wanlong Yao, Ping Liu, Jian Li, Qingyin Wang
Mitogen-activated protein kinase (MAPK) signaling pathway plays an important role in cellular response to inflammatory cytokines, environmental stress and pathogenic infection, However, compared with mammals and insects, the potential function of p38 MAPK from Chinese shrimp (Fenneropenaeus chinensis) in response to viruses and bacterial infection is limited. In the study, the immune responses of four genes MKK3, MKK4, p38 and ATF-2 from F. chinensis were investigated in defending against white spot syndrome virus (WSSV), Vibrio anguillarum (V...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155326/genome-wide-identification-of-the-sweet-gene-family-in-wheat
#10
Yue Gao, Zi Yuan Wang, Vikranth Kumar, Xiao Feng Xu, De Peng Yuan, Xiao Feng Zhu, Tian Ya Li, Bao Lei Jia, Yuan Hu Xuan
The SWEET (sugars will eventually be exported transporter) family is a newly characterized group of sugar transporters. In plants, the key roles of SWEETs in phloem transport, nectar secretion, pollen nutrition, stress tolerance, and plant-pathogen interactions have been identified. SWEET family genes have been characterized in many plant species, but a comprehensive analysis of SWEET members has not yet been performed in wheat. Here, 59 wheat SWEETs (hereafter TaSWEETs) were identified through homology searches...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155325/promoter-activity-and-regulation-of-the-pou5f1-homolog-from-a-teleost-nile-tilapia
#11
Wei Jing, Huang Xiaohuan, Fan Zhenhua, Yang Zhuo, Da Fan, Tao Wenjing, Zhou Linyan, Wang Deshou
Mammalian POU5F1 (also known as OCT4) is an essential transcription factor that induces and controls stemness in the inner cell mass and embryonic stem (ES) cells. Its expression results from intricate regulatory networks involving its 5' upstream DNA elements and numerous transcription factors. Pou5f3, the ortholog of POU5F1, has been identified in non-mammalians including fish. However, little is known about the molecular mechanisms controlling its expression up to date. Here we report the promoter activity and regulation of Nile tilapia (Oreochromis niloticus) pou5f3 (Onpou5f3) in fish early-stage embryos and ES cells...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155258/insights-into-the-multifunctional-role-of-natural-killer-enhancing-factor-a-nkef-a-prx1-in-big-belly-seahorse-hippocampus-abdominalis-dna-protection-insulin-reduction-h2o2-scavenging-and-immune-modulation-activity
#12
G I Godahewa, N C N Perera, Jehee Lee
Natural killer enhancing factor A (NKEF-A), also known as peroxiredoxin 1 (Prx1), is a well-known antioxidant involved in innate immunity. Although NKEF-A/Prx1 has been studied in different fish species, the present study broadens the knowledge of NKEF-A gene in terms of molecular structure, function, and immune responses in fish species. Hippocampus abdominalis NKEF-A (HaNKEF-A) cDNA encoded a putative protein of 198 amino acids containing a thioredoxin_2 domain, VCP motifs, and three conserved cysteine residues including peroxidatic and resolving cysteines...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155257/contrasting-the-microbiomes-from-forest-rhizosphere-and-deeper-bulk-soil-from-an-amazon-rainforest-reserve
#13
Jose Pedro Fonseca, Luisa Hoffmann, Bianca Catarina Azeredo Cabral, Victor Hugo Giordano Dias, Marcio Rodrigues Miranda, Allan Cezar de Azevedo Martins, Clarissa Boschiero, Wanderley Rodrigues Bastos, Rosane Silva
Pristine forest ecosystems provide a unique perspective for the study of plant-associated microbiota since they host a great microbial diversity. Although the Amazon forest is one of the hotspots of biodiversity around the world, few metagenomic studies described its microbial community diversity thus far. Understanding the environmental factors that can cause shifts in microbial profiles is key to improving soil health and biogeochemical cycles. Here we report a taxonomic and functional characterization of the microbiome from the rhizosphere of Brosimum guianense (Snakewood), a native tree, and bulk soil samples from a pristine Brazilian Amazon forest reserve (Cuniã), for the first time by the shotgun approach...
November 15, 2017: Gene
https://www.readbyqxmd.com/read/29154873/medaka-igf1-identifies-somatic-cells-and-meiotic-germ-cells-of-both-sexes
#14
Cancan Yuan, Kerang Chen, Yefei Zhu, Yongming Yuan, Mingyou Li
Insulin-like growth factors (IGFs) play significant roles in regulating cell proliferation, differentiation and reproduction in diverse organisms. Here, we report the identification of medaka igf1 and the expression pattern of igf1 RNA in adult medaka gonads. Using RT-PCR, igf1 RNA was easily detected in several somatic organs and adult gonads of both sexes. Using chromogenic in situ hybridization, igf1 RNA in the ovary was found in stage I-IV oocytes and in the somatic cells throughout oogenesis. In the testis, igf1 RNA was present in meiotic products and the somatic cells surrounding male germ cells throughout spermatogenesis...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29154872/starvation-thermal-and-heavy-metal-associated-expression-of-four-small-heat-shock-protein-genes-in-musca-domestica
#15
Lu Tian, Xiaoyun Wang, Xiaoping Wang, Chaoliang Lei, Fen Zhu
In this study, starvation-, thermal- and heavy metal-associated expression of four small Musca domestica HSPs (abbreviated as MdomHSPs and they are MdomHSP10, MdomHSP27, MdomHSP27.1 and MdomHSP27.2) were determined. The following results were found: All MdomHSPs were significantly higher expressed during the active larval and adult stages than the egg and pupal stages; All MdomHSPs were expressed at relatively equal levels in the head, thorax and abdomen of adults; The expression of MdomHSP27 was significantly down-regulated in 4-day-old larvae that were starved for 6h, while the other 3 MdomHSPs were not significantly affected; Thermal treatment altered the expression of MdomHSPs in 4-day-old larvae: MdomHSP10 was significantly down-regulated in 4-day-old larvae that were maintained at 4°C and 37°C than in those that were maintained at 25°C; Lead, cadmium and chromium exposure influenced larval expression of MdomHSPs to varying degrees...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29154871/association-between-genetic-polymorphisms-in-the-promoters-of-let-7-and-risk-of-cervical-squamous-cell-carcinoma
#16
Jing Liu, Shanshan Ni
Numerous reports showed low levels of let-7 family in cervical cancer, acting as tumor suppressors by regulating multiple target genes. Genetic variants in the promoter of miRNA have been reported to influence individuals' susceptibility to human diseases. We aimed to investigate the association of rs10877887 and rs13293512 polymorphisms in the promoters of let-7 with risk of cervical squamous cell carcinoma (CSCC). A total of 331 patients with CSCC and 358 controls were included. Genotyping of rs10877887 was done using polymerase chain reaction-restriction fragment length polymorphism analysis...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29154870/the-fto-variant-is-associated-with-chronic-complications-of-diabetes-mellitus-in-czech-population
#17
Jaroslav A Hubacek, Dana Dlouha, Marta Klementova, Vera Lanska, Tomas Neskudla, Terezie Pelikanova
BACKGROUND: Genome-wide association studies have resulted in the identification of the FTO gene as an important genetic determinant of diabetes mellitus. The aim of this study was to confirm the role of this gene in the development of DM in the Czech-Slavonic population and to analyse whether this gene is associated with common DM complications. METHODS: Two groups of patients (814 with T1DM and 848 with T2DM) and a group of healthy controls (2339 individuals) - both of Czech origin - were genotyped for the FTO rs17817449 SNP...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29154869/evaluating-different-dna-binding-domains-to-modulate-l1-orf2p-driven-site-specific-retrotransposition-events-in-human-cells
#18
Catherine M Ade, Rebecca S Derbes, Bradley J Wagstaff, Sara B Linker, Travis B White, Dawn Deharo, Victoria P Belancio, Zoltán Ivics, Astrid M Roy-Engel
DNA binding domains (DBDs) have been used with great success to impart targeting capabilities to a variety of proteins creating highly useful genomic tools. We evaluated the ability of five types of DBDs and strategies (AAV Rep proteins, Cre, TAL effectors, zinc finger proteins, and Cas9/gRNA system) to target the L1 ORF2 protein to drive retrotransposition of Alu inserts to specific sequences in the human genome. First, we find that the L1 ORF2 protein tolerates the addition of protein domains both at the amino- and carboxy-terminus...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29146194/association-analyses-of-genetic-variants-in-long-non-coding-rna-malat1-with-breast-cancer-susceptibility-and-mrna-expression-of-malat1-in-chinese-han-population
#19
Rui Peng, Chenglin Luo, Qiaoyun Guo, Jingjing Cao, Qian Yang, Kaiyan Dong, Shuaibing Wang, Kaijuan Wang, Chunhua Song
The long non-coding RNA (lncRNA) Metastasis-associated lung adenocarcinoma transcript 1(MALAT1) has been implicated in breast cancer (BC). Polymorphisms in MALAT1 may play a vital role in the progress of breast cancer by its regulation function. However, potential genetic variants in MALAT1 affecting the development of BC is rarely explored. In our current molecular epidemiology study, all three tagging SNPs (rs3200401, rs619586 and rs7927113) in lncRNA MALAT1 were selected for genotyping in 487BCE patients and 489 cancer-free controls in Chinese Han population, and futher experiment of quantitative real-time (qRT) PCR was conducted to examine the relative expression of MALAT1...
November 13, 2017: Gene
https://www.readbyqxmd.com/read/29141196/asic2a-overexpression-enhances-the-protective-effect-of-pctx1-and-apetx2-against-acidosis-induced-articular-chondrocyte-apoptosis-and-cytotoxicity
#20
Ren-Peng Zhou, Wen-Lin Ni, Bei-Bei Dai, Xiao-Shan Wu, Zhi-Sen Wang, Ya-Ya Xie, Zhi-Qiang Wang, Wei-Jie Yang, Jin-Fang Ge, Wei Hu, Fei-Hu Chen
Acid hydrarthrosis is another important pathological character in rheumatoid arthritis (RA), and acid-sensing ion channel 1a (ASIC1a) plays a destructive role in acidosis-induced articular chondrocyte cytotoxicity. Recently, ASIC2a has been reported to possess neuroprotective effect on acidosis-induced injury of neuronal cells. However, whether ASIC2a has an enhanced effect on the protective effect of blocking ASIC1a and ASIC3 against acid-induced chondrocyte apoptosis is still unclear. The aim of present study was to investigate the chondroprotective effect of ASIC2a with PcTx1 (ASIC1a specific blocker) and APETx2 (ASIC3 specific blocker) on acidosis-induced chondrocyte apoptosis...
November 13, 2017: Gene
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