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synonymous substitution

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https://www.readbyqxmd.com/read/28938601/mutation-profile-based-methods-for-understanding-selection-forces-in-cancer-somatic-mutations-a-comparative-analysis
#1
Zhan Zhou, Yangyun Zou, Gangbiao Liu, Jingqi Zhou, Jingcheng Wu, Shimin Zhao, Zhixi Su, Xun Gu
Human genes exhibit different effects on fitness in cancer and normal cells. Here, we present an evolutionary approach to measure the selection pressure on human genes, using the well-known ratio of the nonsynonymous to synonymous substitution rate in both cancer genomes (CN /CS ) and normal populations (pN /pS ). A new mutation-profile-based method that adopts sample-specific mutation rate profiles instead of conventional substitution models was developed. We found that cancer-specific selection pressure is quite different from the selection pressure at the species and population levels...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28926139/the-synonymous-nucleotide-substitution-rhd-1056c-g-alters-mrna-splicing-associated-with-serologically-weak-d-phenotype
#2
Sejong Chun, Jae Won Yun, Geon Park, Duck Cho
BACKGROUND: D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing can affect end-product protein. We report a new synonymous variation, RHD 1056C>G, that resulted in weak D phenotype, and predicted its effect with various in silico methods...
September 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28922368/a-tree-of-life-based-on-ninety-eight-expressed-genes-conserved-across-diverse-eukaryotic-species
#3
Pawan Kumar Jayaswal, Vivek Dogra, Asheesh Shanker, Tilak Raj Sharma, Nagendra Kumar Singh
Rapid advances in DNA sequencing technologies have resulted in the accumulation of large data sets in the public domain, facilitating comparative studies to provide novel insights into the evolution of life. Phylogenetic studies across the eukaryotic taxa have been reported but on the basis of a limited number of genes. Here we present a genome-wide analysis across different plant, fungal, protist, and animal species, with reference to the 36,002 expressed genes of the rice genome. Our analysis revealed 9831 genes unique to rice and 98 genes conserved across all 49 eukaryotic species analysed...
2017: PloS One
https://www.readbyqxmd.com/read/28918040/codon-optimized-p1a-encoding-dna-vaccine-toward-a-therapeutic-vaccination-against-p815-mastocytoma
#4
Alessandra Lopes, Kevin Vanvarenberg, Véronique Préat, Gaëlle Vandermeulen
DNA vaccine can be modified to increase protein production and modulate immune response. To enhance the efficiency of a P815 mastocytoma DNA vaccine, the P1A gene sequence was optimized by substituting specific codons with synonymous ones while modulating the number of CpG motifs. The P815A murine antigen production was increased with codon-optimized plasmids. The number of CpG motifs within the P1A gene sequence modulated the immunogenicity by inducing a local increase in the cytokines involved in innate immunity...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917316/humoral-and-cytokine-response-elicited-during-immunisation-with-recombinant-immune-mapped-protein-1-etimp-1-and-oocysts-of-eimeria-tenella
#5
Krishnendu Kundu, Rajat Garg, Saroj Kumar, Mrityunjay Mandal, Fiona M Tomley, Damer P Blake, Partha Sarathi Banerjee
Eimeria tenella, the causative agent of caecal coccidiosis, is a pathogenic gut dwelling protozoan which can cause severe morbidity and mortality in farmed chickens. Immune mapped protein-1 (IMP-1) has been identified as an anticoccidial vaccine candidate; in the present study allelic polymorphism was assessed across the IMP-1 coding sequence in E. tenella isolates from four countries and compared with the UK reference Houghton strain. Nucleotide diversity was low, limited to expansion/contraction of a CAG triplet repeat and five substitutions, three of which were non-synonymous...
September 15, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28916985/whole-plastid-transcriptomes-reveal-abundant-rna-editing-sites-and-differential-editing-status-in-phalaenopsis-aphrodite-subsp-formosana
#6
Ting-Chieh Chen, Yu-Chang Liu, Xuewen Wang, Chi-Hsuan Wu, Chih-Hao Huang, Ching-Chun Chang
BACKGROUND: RNA editing is a process of post-transcriptional level of gene regulation by nucleotide modification. Previously, the chloroplast DNA of Taiwan endemic moth orchid, P. aphrodite subsp. formosana was determined, and 44 RNA editing sites were identified from 24 plastid protein-coding transcripts of leaf tissue via RT-PCR and then conventional Sanger sequencing. However, the RNA editing status of whole-plastid transcripts in leaf and other distinct tissue types in moth orchids has not been addressed...
September 16, 2017: Botanical Studies (Taipei, Taiwan)
https://www.readbyqxmd.com/read/28895529/larp4-mrna-codon-trna-match-contributes-to-larp4-activity-for-ribosomal-protein-mrna-poly-a-tail-length-protection
#7
Sandy Mattijssen, Aneeshkumar G Arimbasseri, James R Iben, Sergei Gaidamakov, Joowon Lee, Markus Hafner, Richard J Maraia
Messenger RNA function is controlled by the 3' poly(A) tail (PAT) and poly(A)-binding protein (PABP). La-related protein-4 (LARP4) binds poly(A) and PABP. LARP4 mRNA contains a translation-dependent, coding region determinant (CRD) of instability that limits its expression. Although the CRD comprises <10% of LARP4 codons, the mRNA levels vary >20-fold with synonymous CRD substitutions that accommodate tRNA dynamics. Separately, overexpression of the most limiting tRNA increases LARP4 levels and reveals its functional activity, net lengthening of the PATs of heterologous mRNAs with concomitant stabilization, including ribosomal protein (rp)mRNAs...
September 12, 2017: ELife
https://www.readbyqxmd.com/read/28892166/clinical-patterns-associated-with-the-concurrent-detection-of-anti-hbs-and-hbv-dna
#8
Olympia E Anastasiou, Marek Widera, Johannes Korth, Helenie Kefalakes, Antonios Katsounas, Gudrun Hilgard, Guido Gerken, Ali Canbay, Sandra Ciesek, Jens Verheyen
BACKGROUND: Simultaneous detection of anti-HBs and HBV DNA is a rare serological combination and has been described in acute (AHB) and chronic HBV infection (CHB). OBJECTIVES: To scrutinize viral and clinical patterns associated with concurrent detection of anti-HBs and HBV DNA. STUDY DESIGN: Simultaneous detection of anti-HBs and HBV DNA was observed in 64/1444 (4.4%) patients treated for HBV infection at the University Hospital of Essen from 2006 to 2016 (8 with acute, 20 with reactivated and 36 chronic HBV infection)...
September 11, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28886462/genetic-polymorphism-of-thymidine-kinase-tk-and-dna-polymerase-pol-of-clinical-varicella-zoster-virus-vzv-isolates-collected-over-three-decades
#9
Anja Hoffmann, Kristin Döring, Natalja Tatjana Seeger, Martina Bühler, Michael Schacke, Andi Krumbholz, Andreas Sauerbrei
BACKGROUND: Genotypic resistance testing of varicella-zoster virus (VZV) strains to antivirals is of high relevance in immunocompromised patients with VZV reactivations unresponsive to therapy. However, the knowledge on mutations associated with natural gene polymorphism or resistance is limited. OBJECTIVES: To examine the genotype of the thymidine kinase (TK) and DNA polymerase (pol) of unselected clinical VZV isolates collected between 1984 and 2014 and to verify the phenotype related to novel amino acid (aa) substitutions...
September 1, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28884955/hla-b-40-302-a-novel-allele-identified-by-sequence-based-typing-in-a-korean-individual
#10
Jun Hyung Lee, Jisu Im, Hyun-Jung Choi, Soo-Hyun Kim, Myung-Geun Shin
statement: B*40:302 differs from B*40:02:01:01 by a single non-synonymous nucleotide substitution at codon 81 (CCG→CTG).
September 8, 2017: HLA
https://www.readbyqxmd.com/read/28874229/molecular-evolution-and-phylogeography-of-infectious-hematopoietic-necrosis-virus-with-a-focus-on-its-presence-in-france-over-the-last-30-years
#11
Laure Bellec, Lénaïg Louboutin, Joëlle Cabon, Jeanne Castric, Joëlle Cozien, Richard Thiéry, Thierry Morin
Infectious hematopoietic necrosis virus (IHNV) is among the most important pathogens affecting the salmonid industry. Here, we investigated the molecular evolution and circulation of isolates from 11 countries or regions all over the world, with a special focus on the epidemiological situation in France. The phylogeography, time to the most recent common ancestor (TMRCA) and nucleotide substitution rate were studied using 118 full-length glycoprotein gene sequences isolated from 9 countries (5 genogroups) over a period of 47 years...
September 6, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28859098/a-comparative-transcriptomic-analysis-reveals-the-core-genetic-components-of-salt-and-osmotic-stress-responses-in-braya-humilis
#12
Pengshan Zhao, Lirong Wang, Xin Zhao, Guoxiong Chen, Xiao-Fei Ma
Braya humilis is a member of the Euclidieae tribe within the family Brassicaceae. This species exhibits a broad range of adaptations to different climatic zones and latitudes as it has a distribution that ranges from northern Asia to the arctic-alpine regions of northern North America. In China, B. humilis is mainly found on the Qinghai-Tibetan Plateau (QTP) and in adjacent arid regions. In this study, we sequenced a sample from an arid region adjacent to the QTP using the Illumina platform generating a total of 46,485 highly accurate unigenes, of which 78...
2017: PloS One
https://www.readbyqxmd.com/read/28844906/selection-originating-from-protein-stability-foldability-relationships-between-protein-folding-free-energy-sequence-ensemble-and-fitness
#13
Sanzo Miyazawa
Assuming that mutation and fixation processes are reversible Markov processes, we prove that the equilibrium ensemble of sequences obeys a Boltzmann distribution with exp(4Nem(1-1/(2N))), where m is Malthusian fitness and Ne and N are effective and actual population sizes. On the other hand, the probability distribution of sequences with maximum entropy that satisfies a given amino acid composition at each site and a given pairwise amino acid frequency at each site pair is a Boltzmann distribution with exp(-ψN), where the evolutionary statistical energy ψN is represented as the sum of one body (h) (compositional) and pairwise (J) (covariational) interactions over all sites and site pairs...
August 24, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28831633/characterization-of-major-histocompatibility-complex-class-i-and-class-ii-drb-loci-of-captive-and-wild-indian-leopards-panthera-pardus-fusca
#14
Drashti R Parmar, Siuli Mitra, Snehalata Bhadouriya, Tirupathi Rao, Vaishnavi Kunteepuram, Ajay Gaur
The major histocompatibility complex (MHC), in vertebrate animals, is a multi-genic protein complex that encodes various receptors. During a disease, MHC interacts with the antigen and triggers a cascade of adaptive immune responses to overcome a disease outbreak. The MHC is very important region from immunological point of view, but it is poorly characterized among Indian leopards. During this investigation, we examined genetic diversity for MHC class I (MHC-I) and MHC class II-DRB (MHC-II) among wild and captive Indian leopards...
August 22, 2017: Genetica
https://www.readbyqxmd.com/read/28830353/comparative-transcriptome-analysis-and-identification-of-candidate-effectors-in-two-related-rust-species-gymnosporangium-yamadae-and-gymnosporangium-asiaticum
#15
Si-Qi Tao, Bin Cao, Cheng-Ming Tian, Ying-Mei Liang
BACKGROUND: Rust fungi constitute the largest group of plant fungal pathogens. However, a paucity of data, including genomic sequences, transcriptome sequences, and associated molecular markers, hinders the development of inhibitory compounds and prevents their analysis from an evolutionary perspective. Gymnosporangium yamadae and G. asiaticum are two closely related rust fungal species, which are ecologically and economically important pathogens that cause apple rust and pear rust, respectively, proved to be devastating to orchards...
August 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28819569/a-study-on-il8rb-gene-polymorphism-as-a-potential-immuno-compromised-adherent-in-exaggeration-of-parenteral-and-mammo-crine-oxidative-stress-during-mastitis-in-buffalo
#16
S M El Nahas, A H El Kasas, A A Abou Mossallem, M I Abdelhamid, Mohamad Warda
The genetic markers in inflammatory responses during mastitis afford a reasonable way for improving milk production in the Egyptian buffalo breed. Among them is the interleukin 8 Receptor Gene (IL8RB) (CXCR2); a chemokine receptor gene augments the neutrophil migration during infection. To understand its role better during mastitis in Egyptian buffalos, twenty-five dairy animals representing the normal, sub-clinically, clinically and chronically affected buffalos were randomly selected from different districts...
November 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28812016/syntool-a-novel-region-based-intolerance-score-to-single-nucleotide-substitution-for-synonymous-mutations-predictions-based-on-123-136-individuals
#17
Tongda Zhang, Yiran Wu, Zhangzhang Lan, Quan Shi, Ying Yang, Jian Guo
BACKGROUND: Synonymous mutation is the single nucleotide change that does not cause an amino acid change but can affect the rate and efficiency of translation. So recent increase in our knowledge has revealed a substantial contribution of synonymous mutations to human disease risk and other complex traits. Nevertheless, there are still rarely synonymous mutation prediction methods. METHODS: Nonsynonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28807856/low-levels-of-genetic-diversity-associated-with-evidence-of-negative-selection-on-the-babesia-bovis-apical-membrane-antigen-1-from-parasite-populations-in-thailand
#18
Amarin Rittipornlertrak, Boondarika Nambooppha, Pacharathon Simking, Veerasak Punyapornwithaya, Saruda Tiwananthagorn, Sathaporn Jittapalapong, Yang-Tsung Chung, Nattawooti Sthitmatee
Babesia bovis, a parasite infecting cattle and buffalo, continues to spread throughout the developing world. The babesial vaccine was developed to be a sustainable alternative treatment to control the parasite. However, genetic diversity is a major obstacle for designing and developing a safe and effective vaccine. The apical membrane antigen 1 (AMA-1) is considered to be a potential vaccine candidate antigen among immunogenic genes of B. bovis. To gain a more comprehensive understanding of B. bovis AMA-1 (BbAMA-1), three B...
August 12, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28805451/genetic-characterisation-and-analysis-of-infectious-bronchitis-virus-isolated-from-brazilian-flocks-between-2010-and-2015
#19
Claudia Carranza, Claudete S Astolfi-Ferreira, Silvana H Santander Parra, Luis F N Nuñez, Zoltan Penzes, Jorge L Chacón, Luiz Sesti, Ruy D Chacón, Antonio J Piantino Ferreira
Infectious bronchitis virus (IBV) variants in Brazil were isolated during 2010-2015 for epidemiological and molecular analysis to characterise the different variants and perform a bioinformatic analysis to compare with sequences of variants collected over the previous 40 years. Of the 453 samples examined, 61.4% were positive for IBV and 75.9% of these were considered to have the BR-I genotype and were detected in birds of all ages distributed in all five Brazilian regions. The ratio of non-synonymous substitutions per non-synonymous site (dN) to synonymous substitutions per synonymous site (dS), i...
August 14, 2017: British Poultry Science
https://www.readbyqxmd.com/read/28794033/ancient-evolution-and-dispersion-of-human-papillomavirus-type-58-variants
#20
Zigui Chen, Wendy C S Ho, Siaw Shi Boon, Priscilla T Y Law, Martin C W Chan, Rob DeSalle, Robert D Burk, Paul K S Chan
Human papillomavirus type 58 is found in 10-18% of cervical cancers in East Asia but rather uncommon elsewhere. The distribution and oncogenic potential of HPV58 variants appear to be heterogeneous since the E7 T20I/G63S variant is more prevalent in East Asia and confers 7-9 fold higher risk for cervical precancer and cancer. However, the underlying genomic mechanisms that explain the geographic and carcinogenic diversity of HPV58 variants are still poorly understood. In this study, we used a combination of phylogenetic analyses and bioinformatics to investigate the deep evolutionary history of HPV58 complete genome variants...
August 9, 2017: Journal of Virology
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