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https://www.readbyqxmd.com/read/28332757/selective-modes-determine-evolutionary-rates-gene-compactness-and-expression-patterns-in-brassica
#1
Yue Guo, Jing Liu, Jiefu Zhang, Shengyi Liu, Jianchang Du
It has been well documented that most nuclear protein-coding genes in organisms can be classified into two categories, i.e., positively selected genes (PSGs) and negatively selected genes (NSGs). The characteristics and evolutionary fates of different types of genes, however, have been poorly understood. In this study, the rates of nonsynonymous substitution (Ka) and the synonymous substitution (Ks) were investigated by comparing the orthologs between the two sequenced Brassica species, Brassica rapa, and Brassica oleracea, and the evolutionary rates, gene structures, expression patterns, and codon bias were compared between PSGs and NSGs...
March 23, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28296211/deleterious-effects-of-nonsynonymous-single-nucleotide-variants-of-human-il-1%C3%AE-gene
#2
Yue-Hui Zhang, Jia Song, Jing Zhang, Jiang Shao
The IL-1β gene is currently topic of interest for its important role in the pathogenesis of intervertebral disc degeneration. The new sequencing technology makes it crucial to study the effects of variants in IL-1β. Thus, 714 IL-1β variants with evidence supporting were collected from the EMBL database. Among them, 62 were nonsynonymous single nucleotide variants (nsSNVs). Furthermore, six common nsSNVs were predicted to have damaging effects by SIFT, PolyPhen, PROVEAN and SNPs&GO. Based on the constructed three-dimensional structure of pro-IL-1β, rs375479974 with a mutation of Phe to Ser was proposed to reduce the stability of the pro-IL-1β protein...
March 15, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28288365/dexd-h-box-rna-helicase-genes-are-differentially-expressed-between-males-and-females-during-the-critical-period-of-male-sex-differentiation-in-channel-catfish
#3
Changxu Tian, Suxu Tan, Lisui Bao, Qifan Zeng, Shikai Liu, Yujia Yang, Xiaoxiao Zhong, Zhanjiang Liu
DExD/H-box RNA helicases are motor proteins participating in nearly all aspects of cellular processes, especially in RNA metabolism. In this study, a total of 54 DExD/H-box RNA helicase genes including 37 DDX (DEAD-box) and 17 DHX (DEAH-box) genes were characterized in channel catfish (Ictalurus punctatus), and annotated through phylogenetic and syntenic analyses. All the catfish RNA helicases contained conserved helicase signature motifs, demonstrating that the RNA helicase gene family was highly conserved...
March 1, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28282490/gene-augmentation-therapy-for-a-missense-substitution-in-the-cgmp-binding-domain-of-ovine-cnga3-gene-restores-vision-in-day-blind-sheep
#4
Elisha Gootwine, Mazen Abu-Siam, Alexey Obolensky, Alex Rosov, Hen Honig, Tali Nitzan, Andrey Shirak, Raaya Ezra-Elia, Esther Yamin, Eyal Banin, Edward Averbukh, William W Hauswirth, Ron Ofri, Eyal Seroussi
Purpose: Applying CNGA3 gene augmentation therapy to cure a novel causative mutation underlying achromatopsia (ACHM) in sheep. Methods: Impaired vision that spontaneously appeared in newborn lambs was characterized by behavioral, electroretinographic (ERG), and histologic techniques. Deep-sequencing reads of an affected lamb and an unaffected lamb were compared within conserved genomic regions orthologous to human genes involved in similar visual impairment. Observed nonsynonymous amino acid substitutions were classified by their deleteriousness score...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28264646/strain-dependent-mutational-effects-for-pepino-mosaic-virus-in-a-natural-host
#5
Julia Minicka, Santiago F Elena, Natasza Borodynko-Filas, Błażej Rubiś, Beata Hasiów-Jaroszewska
BACKGROUND: Pepino mosaic virus (PepMV) is an emerging plant pathogen that infects tomatoes worldwide. Understanding the factors that influence its evolutionary success is essential for developing new control strategies that may be more robust against the evolution of new viral strains. One of these evolutionary factors is the distribution of mutational fitness effect (DMFE), that is, the fraction of mutations that are lethal, deleterious, neutral, and beneficial on a given viral strain and host species...
March 6, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28253868/selections-frameshift-mutations-and-copy-number-variation-detected-on-the-surf-4-1-gene-in-the-western-kenyan-plasmodium-falciparum-population
#6
Jesse N Gitaka, Mika Takeda, Masatsugu Kimura, Zulkarnain Md Idris, Chim W Chan, James Kongere, Kazuhide Yahata, Francis W Muregi, Yoshio Ichinose, Akira Kaneko, Osamu Kaneko
BACKGROUND: Plasmodium falciparum SURFIN4.1 is a putative ligand expressed on the merozoite and likely on the infected red blood cell, whose gene was suggested to be under directional selection in the eastern Kenyan population, but under balancing selection in the Thai population. To understand this difference, surf 4.1 sequences of western Kenyan P. falciparum isolates were analysed. Frameshift mutations and copy number variation (CNV) were also examined for the parasites from western Kenya and Thailand...
March 2, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28253282/identification-of-extensive-drug-resistant-pseudomonas-aeruginosa-strains-new-clone-st1725-and-high-risk-clone-st233
#7
Pamela Aguilar-Rodea, Gerardo Zúñiga, Benjamín Antonio Rodríguez-Espino, Alma Lidia Olivares Cervantes, Ana Estela Gamiño Arroyo, Sarbelio Moreno-Espinosa, Daniela de la Rosa Zamboni, Briceida López Martínez, María Del Carmen Castellanos-Cruz, Israel Parra-Ortega, Verónica Leticia Jiménez Rojas, Juan Carlos Vigueras Galindo, Norma Velázquez-Guadarrama
Several microorganisms produce nosocomial infections (NIs), among which Pseudomonas aeruginosa stands out as an opportunist pathogen with the capacity to develop multiresistance to first-choice antibiotics. From 2007 to 2013, forty-six NIs produced by P. aeruginosa were detected at a pediatric tertiary care hospital in Mexico with a significant mortality rate (17.39%). All isolates (n = 58/46 patients) were characterized by evaluating their response to several antibiotics as panresistant (PDR), extensively resistant (XDR), multiresistant (MDR) or sensitive (S)...
2017: PloS One
https://www.readbyqxmd.com/read/28242674/in-vitro-activity-of-bedaquiline-against-nontuberculous-mycobacteria-in-china
#8
Yu Pang, Huiwen Zheng, Yaoju Tan, Yuanyuan Song, Yanlin Zhao
The main goal of our study was to evaluate in vitro drug susceptibility of bedaquiline against six prevalent pathogenic nontuberculous mycobacteria (NTM) diseases in China. In addition, we investigated the potential molecular mechanism contributing to the bedaquiline resistance in these different NTM species. For slowly growing mycobacteria (SGM), bedaquiline exhibited the highest activity against Mycobacterium avium, the MIC50 and MIC90 were 0.03 and 16 mg/L, respectively. Of rapidly growing mycobacteria (RGM), Mycobacterium abscessus subsp...
February 27, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28220980/the-fire-ant-social-chromosome-supergene-variant-sb-shows-low-diversity-but-high-divergence-from-sb
#9
Rodrigo Pracana, Anurag Priyam, Ilya Levantis, Richard A Nichols, Yannick Wurm
Variation in social behavior is common yet little is known about the genetic architectures underpinning its evolution. A rare exception is in the fire ant Solenopsis invicta: Alternative variants of a supergene region determine whether a colony will have exactly one or up to dozens of queens. The two variants of this region are carried by a pair of "social chromosomes", SB and Sb, which resemble a pair of sex chromosomes. Recombination is suppressed between the two chromosomes in the supergene region. While the X-like SB can recombine with itself in SB/SB queens, recombination is effectively absent in the Y-like Sb because Sb/Sb queens die before reproducing...
February 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28198556/comparison-of-genetic-characteristics-in-the-evolution-of-norovirus-gii-4-and-gii-17
#10
Kohji Mori, Kazushi Motomura, Yoshiko Somura, Kana Kimoto, Tetsuya Akiba, Kenji Sadamasu
The genetic characteristics of Norovirus GII.17 were evaluated. Phylogenetic analysis and comparisons of amino acid (Aa) substitutions and nonsynonymous (NS) substitutions/site/year were performed. The complete VP1 sequence of Tokyo/27-3/1976 clustered independently with GII.P17_GII.17 strains. Aa substitutions were mainly accumulated in the P2 domain. NS substitutions/site/year for Tokyo/27-3/1976 compared to Kawasaki323/2014 and Kawasaki308/2015 were 0.57 × 10(-3) and 0.78 × 10(-3) , respectively; for GII...
February 15, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28185042/phylogenomic-relationship-of-feijoa-acca-sellowiana-o-berg-burret-with-other-myrtaceae-based-on-complete-chloroplast-genome-sequences
#11
Lilian de Oliveira Machado, Leila do Nascimento Vieira, Valdir Marcos Stefenon, Fábio de Oliveira Pedrosa, Emanuel Maltempi de Souza, Miguel Pedro Guerra, Rubens Onofre Nodari
Given their distribution, importance, and richness, Myrtaceae species comprise a model system for studying the evolution of tropical plant diversity. In addition, chloroplast (cp) genome sequencing is an efficient tool for phylogenetic relationship studies. Feijoa [Acca sellowiana (O. Berg) Burret; CN: pineapple-guava] is a Myrtaceae species that occurs naturally in southern Brazil and northern Uruguay. Feijoa is known for its exquisite perfume and flavorful fruits, pharmacological properties, ornamental value and increasing economic relevance...
February 9, 2017: Genetica
https://www.readbyqxmd.com/read/28161810/mutation-screening-of-gata4-gene-in-ctd-patients-within-chinese-han-population
#12
Yang Liu, Bojian Li, Yuejuan Xu, Kun Sun
Conotruncal heart defect is a complex form of congenital heart disease and usually has a poor prognosis. Although previous studies have identified several missense variants in GATA4 gene that may cause CTD, it remains unclear whether they are involved in CTD pathogenesis because the study population was limited. The aim of the study was to investigate the mutations of GATA4 gene in isolated CTD Chinese Han patients and identify the pathomechanism of the missense mutations. In this report, the coding exons and exon-intron boundaries of the GATA4 gene were sequenced in 600 CTD patients and 300 controls...
February 4, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28115489/functional-validation-of-a-common-nonsynonymous-coding-variant-in-zc3hc1-associated-with-protection-from-coronary-artery-disease
#13
Tara Linseman, Sébastien Soubeyrand, Amy Martinuk, Majid Nikpay, Paulina Lau, Ruth McPherson
BACKGROUND: Although virtually all coronary artery disease associated single-nucleotide polymorphisms identified by genome-wide association studies (GWAS) are in noncoding regions of the genome, a common polymorphism in ZC3HC1 (rs11556924), resulting in an arginine (Arg) to histidine (His) substitution in its encoded protein, NIPA (Nuclear Interacting Partner of Anaplastic Lyphoma Kinase) is linked to a protection from coronary artery disease. NIPA plays a role in cell cycle progression, but the functional consequences of this polymorphism have not been established...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28095902/identification-of-positive-selection-in-genes-is-greatly-improved-by-using-experimentally-informed-site-specific-models
#14
Jesse D Bloom
BACKGROUND: Sites of positive selection are identified by comparing observed evolutionary patterns to those expected under a null model for evolution in the absence of such selection. For protein-coding genes, the most common null model is that nonsynonymous and synonymous mutations fix at equal rates; this unrealistic model has limited power to detect many interesting forms of selection. RESULTS: I describe a new approach that uses a null model based on experimental measurements of a gene's site-specific amino-acid preferences generated by deep mutational scanning in the lab...
January 17, 2017: Biology Direct
https://www.readbyqxmd.com/read/28095328/an-integrated-proteomic-and-transcriptomic-analysis-of-perivitelline-fluid-proteins-in-a-freshwater-gastropod-laying-aerial-eggs
#15
Huawei Mu, Jin Sun, Horacio Heras, Ka Hou Chu, Jian-Wen Qiu
Proteins of the egg perivitelline fluid (PVF) that surrounds the embryo are critical for embryonic development in many animals, but little is known about their identities. Using an integrated proteomic and transcriptomic approach, we identified 64 proteins from the PVF of Pomacea maculata, a freshwater snail adopting aerial oviposition. Proteins were classified into eight functional groups: major multifunctional perivitellin subunits, immune response, energy metabolism, protein degradation, oxidation-reduction, signaling and binding, transcription and translation, and others...
January 14, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28087757/alternative-transcription-of-sodium-bicarbonate-transporter-slc4a7-gene-enhanced-by-single-nucleotide-polymorphisms
#16
Hae Jeong Park, Soojung Lee, Eunji Ju, Jayre A Jones, Inyeong Choi
Genome-wide association studies have identified the single nucleotide polymorphism (SNP) rs3278 in the human SLC4A7 gene as one of the marker loci for addiction vulnerability. This marker is located in an intron of the gene, and its genomic role has been unknown. In this study, we examined rs3278 and three adjacent SNPs prevalent in alcoholics for their effects on an alternative promoter that would lead to the production of the N-terminally truncated protein NBCn1ΔN450, missing the first 450 amino acids. Analysis of the transcription start site database and a promoter prediction algorithm identified a cluster of three promoters in intron 7 and two short CpG-rich sites in intron 6...
January 13, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28051058/purifying-selection-and-genetic-drift-shaped-pleistocene-evolution-of-the-mitochondrial-genome-in-an-endangered-australian-freshwater-fish
#17
A Pavlova, H M Gan, Y P Lee, C M Austin, D M Gilligan, M Lintermans, P Sunnucks
Genetic variation in mitochondrial genes could underlie metabolic adaptations because mitochondrially encoded proteins are directly involved in a pathway supplying energy to metabolism. Macquarie perch from river basins exposed to different climates differ in size and growth rate, suggesting potential presence of adaptive metabolic differences. We used complete mitochondrial genome sequences to build a phylogeny, estimate lineage divergence times and identify signatures of purifying and positive selection acting on mitochondrial genes for 25 Macquarie perch from three basins: Murray-Darling Basin (MDB), Hawkesbury-Nepean Basin (HNB) and Shoalhaven Basin (SB)...
January 4, 2017: Heredity
https://www.readbyqxmd.com/read/28010137/hydronephrosis-with-ureteritis-developed-in-c57bl-6n-mice-carrying-the-congenic-region-derived-from-mrl-mpj-type-chromosome-11
#18
Osamu Ichii, Masataka Chihara, Shin-Hyo Lee, Teppei Nakamura, Saori Otsuka-Kanazawa, Taro Horino, Yaser Hosny Ali Elewa, Yasuhiro Kon
Inbred MRL/MpJ mice show several unique phenotypes in tissue regeneration processes and the urogenital and immune systems. Clarifying the genetic and molecular bases of these phenotypes requires the analysis of their genetic susceptibility locus. Herein, hydronephrosis development was incidentally observed in MRL/MpJ-derived chromosome 11 (D11Mit21-212)-carrying C57BL/6N-based congenic mice, which developed bilateral or unilateral hydronephrosis in both males and females with 23.5% and 12.5% prevalence, respectively...
December 23, 2016: Autoimmunity
https://www.readbyqxmd.com/read/27999249/genetic-structure-and-molecular-variability-analysis-of-citrus-sudden-death-associated-virus-isolates-from-infected-plants-grown-in-brazil
#19
Emilyn Emy Matsumura, Helvécio Della Coletta Filho, Silvia de Oliveira Dorta, Shahideh Nouri, Marcos Antonio Machado
Citrus sudden death-associated virus (CSDaV) is a monopartite positive-sense single-stranded RNA virus that was suggested to be associated with citrus sudden death (CSD) disease in Brazil. Here, we report the first study of the genetic structure and molecular variability among 31 CSDaV isolates collected from both symptomatic and asymptomatic trees in CSD-affected areas. Analyses of partial nucleotide sequences of five domains of the CSDaV genomic RNA, including those encoding for the methyltransferase, the multi-domain region (MDR), the helicase, the RNA-dependent RNA polymerase and the coat protein, showed that the MDR coding region was the most diverse region assessed here, and a possible association between this region and virus adaption to different host or plant tissues is considered...
December 16, 2016: Viruses
https://www.readbyqxmd.com/read/27939817/late-onset-hereditary-hypophosphatemic-rickets-with-hypercalciuria-hhrh-due-to-mutation-of-slc34a3-npt2c
#20
Gauri Dhir, Dong Li, Hakon Hakonarson, Michael A Levine
OBJECTIVE: To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. SUBJECTS: A 54-year-old Vietnamese man, his unaffected two daughters and wife. METHODS: We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells. RESULTS: Biochemical evaluation of the proband revealed hypophosphatemia with increased renal phosphate wasting, hypercalciuria, low serum parathyroid hormone (PTH) and an elevated serum 1,25(OH)2D level...
December 7, 2016: Bone
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