Strain Construction and Process Development for Efficient Recombinant Production of Mannuronan C-5 Epimerases in Hansenula polymorpha by Anne Tøndervik, Randi Aune, Adelheid Degelmann, Michael Piontek, Helga Ertesvåg, Gudmund Skjåk-Bræk, Håvard Sletta

“…H. polymorpha expression strains were constructed using synthetic genes with reduced repetitive sequences as well as optimized codon usage. High cell density cultivations revealed that the largest epimerases AlgE1 (147 kDa) and AlgE6 (90 kDa) are subject to proteolytic degradation by proteases secreted by the yeast cells. …”
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Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome by Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu

“…Furthermore, the 3′‐splice site acceptor (c.431‐2A>G) variant was found to activate a cryptic acceptor splice site, which resulted in the loss of 29 nucleotides and generation of a premature stop codon at code 180, producing a truncated BRAT1 (c.432_460del; p.Ala145Argfs*36). …”
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Recombinant Expression and Biophysical Characterization of a Druggable Schistosoma mansoni Universal Stress G4LZI3 Protein by Abiola Fatimah Adenowo, Priscilla Masamba, Ndibonani Kebonang Qokoyi, Babatunji Emmanuel Oyinloye, Abidemi Paul Kappo

“…Purpose: Universal stress protein (USP) from Schistosoma mansoni, designated as G4LZI3, waspreviously hypothesised as a druggable target and vaccine candidate for human schistosomiasis.The purpose of this study is to characterize a purified recombinant G4LZI3 preliminarily forsubsequent structural characterization, which will provide baseline structural data for futurefunctional studies for the discovery, design and development of new schistosomal drugs for thetreatment, control and elimination of schistosomiasis.Methods: Restriction digest analysis of a GenScript-synthesised codon-optimised G4LZI3gene construct was carried out to ascertain its integrity and size. …”
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The broad use of the Pm8 resistance gene in wheat resulted in hypermutation of the AvrPm8 gene in the powdery mildew pathogen by Lukas Kunz, Alexandros G. Sotiropoulos, Johannes Graf, Mohammad Razavi, Beat Keller, Marion C. Müller

“…The second category consisted of numerous destructive mutations to the AvrPm8 open reading frame such as disruptions of the start codon, gene truncations, gene deletions, and interference with mRNA splicing. …”
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Regulation of PI-2b Pilus Expression in Hypervirulent Streptococcus agalactiae ST-17 BM110. by Bruno Périchon, Noémi Szili, Laurence du Merle, Isabelle Rosinski-Chupin, Myriam Gominet, Samuel Bellais, Claire Poyart, Patrick Trieu-Cuot, Shaynoor Dramsi

“…Our results indicate the presence of a single promoter (Ppi2b) with a transcriptional start site (TSS) mapped 37 bases upstream of the start codon of the first PI-2b gene. The large operon of 16 genes located upstream of PI-2b codes for the group B carbohydrate (also known as antigen B), a major constituent of the bacterial cell wall. …”
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A Hypomorphic Mutant of PHD Domain Protein Male Meiocytes Death 1 by Bing Liu, Chunlian Jin, Nico De Storme, Sébastien Schotte, Cédric Schindfessel, Tim De Meyer, Danny Geelen

“…<i>mmr1</i> contains a C-to-T transition at the third exon of <i>MMD1</i>/<i>DUET</i> at the genomic position 2168 bp from the start codon, which causes an amino acid change G618D that locates in the conserved PHD-finger domain of histone binding proteins. …”
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Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome by Mary Ellen Jensen, Katelin Harrell, Jeffrey D. McBride, Jeffrey D. McBride

“…Our patient underwent genetic testing and was found to have a mutation in codon 1000 C &gt; T (protein R334W) in the NOD2 gene. …”
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Plastid genome data provide new insights into the dynamic evolution of the tribe Ampelopsideae (Vitaceae) by Lei Zhang, Ying Meng, Da Wang, Guan-Hao He, Jun-Ming Zhang, Jun Wen, Ze-Long Nie

“…Conclusions Our results highlighted plastome variations in genome length, expansion or contraction of the inverted repeat region, codon usage bias, and repeat sequences, are corresponding to the three lineages of the tribe, which probably faced with different environmental selection pressures and evolutionary history. …”
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Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father by Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, Ben Hamel

“…Because another missense variant at the same position and other missense variants involving the same highly conserved codon have been reported, we consider this NR5A1 variant in this 46,XY DSD patient as likely pathogenic in accordance with the ACMG/AMP 2015 guidelines causing ambiguous genitalia but no adrenal insufficiency. …”
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Frameshift Variant in <i>AMPD2</i> in Cirneco dell’Etna Dogs with Retinopathy and Tremors by Leonardo Murgiano, Jessica K. Niggel, Leontine Benedicenti, Matteo Cortellari, Arianna Bionda, Paola Crepaldi, Luigi Liotta, Geoffrey K. Aguirre, William A. Beltran, Gustavo D. Aguirre

“…Notably, we detected a 1-bp deletion in chromosome 6 that was predicted to cause a frameshift and premature stop codon within the canine <i>AMPD2</i> gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5′-monophosphate (AMP) to inosine 5’-monophosphate (IMP). …”
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Stepwise engineering of a <it>Pichia pastoris </it>D-amino acid oxidase whole cell catalyst by Speight Robert, Arnold S Alison, Bergler Gabriele, Nahalka Jozef, Abad Sandra, Fotheringham Ian, Nidetzky Bernd, Glieder Anton

“…</p> <p>Results</p> <p>As compared to the native <it>T. variabilis </it>host, a more than seven-fold enhancement of the intracellular level of oxidase activity was achieved in <it>P. pastoris </it>through expression optimization by codon redesign as well as efficient subcellular targeting of the enzyme to peroxisomes. …”
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Therapeutic efficacy of artesunate in the treatment of uncomplicated <it>Plasmodium falciparum</it> malaria and anti-malarial, drug-resistance marker polymorphisms in populations n... by Huang Fang, Tang Linhua, Yang Henglin, Zhou Shuisen, Sun Xiaodong, Liu Hui

“…The <it>pfcrt</it> mutation in codon 76 was found in all isolates (100%), and mutations in codons 71 and 72 were found in 4.8% of parasite isolates. …”
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Evaluation of genetic diversity of Estahban region fig genotypes based on morphological traits and SCoT molecular markers by Elaheh Ranjbaran, Mehdi Rahimi, Maryam Abdolinasab, Hamid Zare, Mojtaba Kordrostami

“…The aim of this study was to determine the genetic diversity of genotypes in Estahban using morphological traits and Start Codon Targeted (SCoT) molecular markers.  Materials and methodsIn this study, 16 fig genotypes were evaluated in a completely randomized design with three replications based on their morphological traits. …”
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CRISPR/Cas9‐mediated knockout of an oil palm defense‐related gene to the pathogenic fungus Ganoderma boninense by Asmini Budiani, Imam Bagus Nugroho, Dini Astika Sari, Inez Palupi, Riza Arief Putranto

“…The sequenced PCR products of genomic DNA as the template amplified using EMLP1 primers showed a point mutation, causing a frameshift in the edited EgEMLP and premature stop codon. Furthermore, in silico modeling demonstrated that the mutation resulted in a change in the C‐terminal region, affecting the tertiary protein structure. …”
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Phylodynamics of dengue virus 2 in Nicaragua leading up to the 2019 epidemic reveals a role for lineage turnover by Panpim Thongsripong, Sean V. Edgerton, Sandra Bos, Saira Saborío, Guillermina Kuan, Angel Balmaseda, Eva Harris, Shannon N. Bennett

“…We found evidence of adaptive evolution by natural selection at the codon level as well as in branch formation. Conclusions The timing of its emergence, along with a statistical signal of adaptive evolution and distinctive amino acid substitutions, the latest in the NS5 gene, suggest that this lineage may have increased fitness relative to the prior dominant DENV-2 strains. …”
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Mutations in the Second Alternative Oxidase Gene: A New Approach to Group <i>Aspergillus niger</i> Strains by Michel Flipphi, Alexandra Márton, Vivien Bíró, Norbert Ág, Erzsébet Sándor, Erzsébet Fekete, Levente Karaffa

“…Three other alleles result from point mutations: a missense mutation of the start codon, a frameshift, and a nonsense mutation. <i>A. niger</i> strain ATCC 1015 has a full-length <i>aoxB</i> gene. …”
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In Vivo Evaluation of the Combined Anticancer Effects of Cisplatin and SAHA in Nonsmall Cell Lung Carcinoma Using [18F]FAHA and [18F]FDG PET/CT Imaging by Skye Hsin-Hsien Yeh, Ming Hsien Lin, I. I. Leo Garcia Flores, Uday Mukhopadhyay, Danial Young, Kazuma Ogawa, Jeong-Hwan Jeong, William Tong, Juri G. Gelovani, Nobuyoshi Fukumitsu

“…Moreover, SAHA had a more significant effect on the acetylome in PC14 (EGFR exon 19 deletion mutation) xenografts than H441 (wild-type EGFR and KRAS codon 12 mutant) xenografts. In conclusion, [18F] FAHA enables quantitative visualization of HDAC activity/expression in vivo, thus, may represent a clinically useful, noninvasive tool for the management of patients who may benefit from synergistic anticancer therapy.…”
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Comparative Mitogenomic Analyses of Darkling Beetles (Coleoptera: Tenebrionidae) Provide Evolutionary Insights into tRNA-like Sequences by Su-Hao Wang, Shi-Yun Hu, Min Li, Min Liu, Hao Sun, Jia-Rui Zhao, Wen-Ting Chen, Ming-Long Yuan

“…The tenebrionid mitogenomes were highly conserved with respect to genome size, gene arrangement, base composition, and codon usage. All protein-coding genes evolved under purifying selection. …”
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The epidemiology and evolutionary dynamics of massive dengue outbreak in China, 2019 by Shaowei Sang, Shaowei Sang, Yujuan Yue, Yiguan Wang, Xiangwei Zhang

“…Positive selection was detected at codon 386 in clade 1.ConclusionDengue importation from abroad, especially from Southeast Asia, resulted in the dengue epidemic in China in 2019. …”
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Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family by Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah

“…In silico analysis predicted a shift in the frame causing an early stop codon (p.R83GfsX52). The predicted dwarf protein constituting 134 amino acids was functionally aberrant with a complete loss of the catalytic domain at the C-terminus. …”
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