The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner by Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

“…Our prediction using novel software’s suggested a 124-nt exon elongation containing a premature stop codon. This elongation was validated using midigenes-based approaches. …”
Get full text

Evaluation of a dill (Anethum graveolens L.) gene bank germplasm collection using multivariate analysis of morphological traits, molecular genotyping and chemical composition to id... by Kalliopi Kadoglidou, Catherine Cook, Anastasia Boutsika, Eirini Sarrou, Ifigeneia Mellidou, Christina Aidonidou, Ioannis Grigoriadis, Andrea Angeli, Stefan Martens, Vasiliki Georgiadou, Theodoros Moysiadis, Parthenopi Ralli, Ioannis Mylonas, Nikolaos Tourvas, Michail Michailidis, Apostolos Kalivas, Eleni Maloupa, Ioannis Ganopoulos, Aliki Xanthopoulou

“…Polymorphic loci for inter-simple sequence repeat (ISSR) and start codon targeted (SCoT) molecular markers were 76.47% and 72.41% for landraces, and 68.24% and 43.10% for the modern cultivars, respectively. …”
Get full text

Frequency of an X-Linked Maternal Variant of the Bovine <i>FOXP3</i> Gene Associated with Infertility in Different Cattle Breeds: A Pilot Study by Md Shafiqul Islam, Mitsuhiro Takagi, Keun-Woo Lee, Hye-Sook Chang, Hiroaki Okawa, Muchammad Yunus, Tita Damayanti Lestari, Martia Rani Tacharina, Shahnaj Pervin, Tofazzal Md Rakib, Akira Yabuki, Osamu Yamato

“…Recently, an X-linked maternal single-nucleotide polymorphism (SNP), located 2175 base pairs upstream of the start codon in the bovine <i>FOXP3</i> gene (NC_037357.1: g.87298881A>G, rs135720414), was identified in Japanese Black (JB: <i>Bos taurus</i>) cows in association with recurrent infertility. …”
Get full text

The Identification of a Novel Nucleomodulin MbovP467 of <i>Mycoplasmopsis bovis</i> and Its Potential Contribution in Pathogenesis by Abdul Raheem, Doukun Lu, Abdul Karim Khalid, Gang Zhao, Yingjie Fu, Yingyu Chen, Xi Chen, Changmin Hu, Jianguo Chen, Huanchun Chen, Aizhen Guo

“…Subsequently, the MbovP467 gene was synthesized and cloned into a pEGFP plasmid with EGFP labeling to obtain a recombinant plasmid (rpEGFP-MbovP467) and then was also cloned in pET-30a with a consideration for an <i>Escherichia coli</i> codon bias and expressed and purified for the production of polyclonal antibodies against the recombinant MbovP467 protein. …”
Get full text

Direct correction of haemoglobin E β-thalassaemia using base editors by Mohsin Badat, Ayesha Ejaz, Peng Hua, Siobhan Rice, Weijiao Zhang, Lance D. Hentges, Christopher A. Fisher, Nicholas Denny, Ron Schwessinger, Nirmani Yasara, Noemi B. A. Roy, Fadi Issa, Andi Roy, Paul Telfer, Jim Hughes, Sachith Mettananda, Douglas R. Higgs, James O. J. Davies

“…HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG; glutamatic acid → AAG; lysine, E26K), and any mutation causing severe β-thalassaemia on the other. …”
Get full text

The complete mitochondrial genome of the brown pansy butterfly, Junonia stygia (Aurivillius, 1894), (Insecta: Lepidoptera: Nymphalidae) by Living Prairie Mitogenomics Consortium, Seun Ajibola, Vibhuti Arya, Emily N. Barker, Kirsten T. Biggar, Dominic M. Bohemier, Julina N. Braga, Jessica L. Buchel, Vicky Bui, Julian M. Burtniak, Codey E. Dueck, Steven J. Dupas, Shayna J. Giesbrecht, Alexandra Haverstick, Stefan B. Hreno, Amy L. Irvine, Carter Johnson, Ivory C. Jorgenson, Matthew R. Kroeker, Corrine M. Kuo, Joohee Lee, Vatineh N. Magaji, Gillian J. McIvor, Katrina S. Melgarejo, Michael D. Moore, Olamide U. Ogungbola, Josephine E. Payment, Daniel O. Peter-Salawu, Ashton P. Raitt, Breann T. Recksiedler, Megan Rodriguez, Rahel B. Sahlemariam, Shabadjot Sandhawalia, Mackenzie A. Sarvis, Megan L. Skakum, Jordan C. Small, Kassandra R. Taverner, Chaltu B. Tesfaye, Lea J. Tessier, Catherine J. Unrau, Natasha G. M. Wadlow, Jeffrey M. Marcus

“…Junonia stygia COX1 features an atypical CGA start codon, while ATP6, COX1, COX2, ND4, and ND4L exhibit incomplete stop codons. …”
Get full text

Donor Splice Site Variant in <i>SLC9A6</i> Causes Christianson Syndrome in a Lithuanian Family: A Case Report by Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė, Loreta Cimbalistienė, Živilė Maldžienė, Tautvydas Rančelis, Evelina Marija Vaitėnienė, Laima Ambrozaitytė, Justas Dapkūnas, Ramūnas Dzindzalieta, Erinija Pranckevičienė, Vaidutis Kučinskas, Algirdas Utkus, Eglė Preikšaitienė

“…<i>Results</i>: Sequencing and bioinformatical analysis revealed a novel donor splice site variant (NC_000023.11(NM_001042537.1):c.899 + 1G > A) that leads to a frameshift and a premature stop codon. Protein structure modelling showed that the truncated protein is unlikely to form any functionally relevant SLC9A6 dimers. …”
Get full text

Development of an in vitro biofilm model for the study of the impact of fluoroquinolones on sewer biofilm microbiota by Sarah A. Naudin, Aude A. Ferran, Pedro Henrique Imazaki, Nathalie Arpaillange, Camille Marcuzzo, Maïna Vienne, Maïna Vienne, Sofia Demmou, Alain Bousquet-Mélou, Felipe Ramon-Portugal, Marlene Z. Lacroix, Claire Hoede, Claire Hoede, Maialen Barret, Véronique Dupouy, Delphine Bibbal

“…Fluoroquinolone exposure had no significant impact on the abundance of qnr genes, but high concentration exposure increased the proportion of mutations in gyrA (codons S83L and D87N) and parC (codon S80I). In conclusion, this study allowed the determination of the culture conditions to develop an in vitro model of sewer biofilm; and was successfully used to investigate the impact of FQs on sewer microbiota. …”
Get full text

Design of Multi-Epitope Vaccine for <i>Staphylococcus saprophyticus</i>: Pan-Genome and Reverse Vaccinology Approach by Maha Yousaf, Asad Ullah, Nida Sarosh, Sumra Wajid Abbasi, Saba Ismail, Shabana Bibi, Mohammad Mehedi Hasan, Ghadeer M. Albadrani, Nehal Ahmed Talaat Nouh, Jawaher A. Abdulhakim, Mohamed M. Abdel-Daim, Talha Bin Emran

“…In silico cloning validations yielded a codon adaptation index (CAI) value of 1 and an ideal percentage of GC contents (46.717%), indicating a putative expression of the vaccine in <i>E. coli.…”
Get full text

Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice by Agnese Padula, Raffaella Petruzzelli, Sasha A. Philbert, Stephanie J. Church, Federica Esposito, Severo Campione, Marcello Monti, Filomena Capolongo, Claudia Perna, Edoardo Nusco, Hartmut H. Schmidt, Alberto Auricchio, Garth J.S. Cooper, Roman Polishchuk, Pasquale Piccolo

“…We generated two AAVs expressing either the 5′-half of a codon-optimized human ATP7B cDNA followed by the N-terminal Npu DnaE intein or the C-terminal Npu DnaE intein followed by the 3′-half of ATP7B cDNA, under the control of a liver-specific promoter. …”
Get full text

Structural vaccinology-based design of multi-epitopes vaccine against Streptococcus gordonii and validation using molecular modeling and immune simulation approaches by Syed Nouman Nasir, Ayesha Iftikhar, Farukh Zubair, Abdulrahman Alshammari, Metab Alharbi, Abdullah F. Alasmari, Abbas Khan, Muhammad Waseem, Syed Shujait Ali, Liaqat Ali, Yasir Waheed, Dong-Qing Wei

“…Finally, the vaccine sequence was reverse-translated, optimized for codon usage, and analyzed for expression in the Escherichia coli K12 strain. …”
Get full text

Genetic Mapping, Identification, and Characterization of a Candidate Susceptibility Gene for Powdery Mildew in Cannabis sativa by George M. Stack, Ali R. Cala, Michael A. Quade, Jacob A. Toth, Luis A. Monserrate, Dustin G. Wilkerson, Craig H. Carlson, Allen Mamerto, Todd P. Michael, Seth Crawford, Christine D. Smart, Lawrence B. Smart

“…Genomic DNA and cDNA sequencing of CsMLO1 revealed a 6.8-kb insertion in FL 58, relative to TJ's CBD, of which 846 bp are typically spliced into the mRNA transcript encoding a premature stop codon. Molecular marker assays were developed using CsMLO1 sequences to distinguish PM-resistant and PM-susceptible genotypes. …”
Get full text

Comprehensive Tools of Alkaloid/Volatile Compounds–Metabolomics and DNA Profiles: Bioassay-Role-Guided Differentiation Process of Six <i>Annona</i> sp. Grown in Egypt as Anticancer... by Mona A. Mohammed, Nahla Elzefzafy, Manal F. El-Khadragy, Abdulhakeem Alzahrani, Hany Mohamed Yehia, Piotr Kachlicki

“…By utilizing six Start Codon Targeted (SCoT) and six Inter Simple Sequence Repeat (ISSR) primers for DNA fingerprinting, we discovered polymorphism percentages of 45.16 and 35.29%, respectively. …”
Get full text

Decapping factor Dcp2 controls mRNA abundance and translation to adjust metabolism and filamentation to nutrient availability by Anil Kumar Vijjamarri, Xiao Niu, Matthew D Vandermeulen, Chisom Onu, Fan Zhang, Hongfang Qiu, Neha Gupta, Swati Gaikwad, Miriam L Greenberg, Paul J Cullen, Zhenguo Lin, Alan G Hinnebusch

“…DEAD-box protein Dhh1 has been implicated as an activator of decapping, in coupling codon non-optimality to enhanced degradation, and as a translational repressor, but its functions in cells are incompletely understood. …”
Get full text

Metabolic engineering of Corynebacterium glutamicum for fatty alcohol production from glucose and wheat straw hydrolysate by Felix Werner, Lynn S. Schwardmann, Daniel Siebert, Christian Rückert-Reed, Jörn Kalinowski, Marie-Theres Wirth, Katharina Hofer, Ralf Takors, Volker F. Wendisch, Bastian Blombach

“…Results To engineer Corynebacterium glutamicum for FAL production, we deregulated fatty acid biosynthesis by deleting the transcriptional regulator gene fasR, overexpressing a fatty acyl-CoA reductase (FAR) gene of Marinobacter hydrocarbonoclasticus VT8 and attenuating the native thioesterase expression by exchange of the ATG to a weaker TTG start codon. C. glutamicum ∆fasR cg2692TTG (pEKEx2-maqu2220) produced in shaking flasks 0.54 ± 0.02 gFAL L−1 from 20 g glucose L−1 with a product yield of 0.054 ± 0.001 Cmol Cmol−1. …”
Get full text

The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis by Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng, Jie Yu

“…The missense mutation c.295G > T in exon 3 resulted in altering glycine at codon 87 to cysteine which was predicted to be pathogenic in an in silico analysis. …”
Get full text

The Survival Outcomes of the Metastatic Nonclear Cell Renal Cell Carcinoma in the Immunotherapy Era: Princess Margaret Cancer Centre Experience by Esmail Al-Ezzi, Abhenil Mittal, Zachary W. Veitch, Amer Zahralliyali, Nely Mercy Diaz Mejia, Osama Abdeljalil, Husam Alqaisi, Vikaash Kumar, Aaron R. Hansen, Nazanin Fallah-Rad, Srikala S. Sridhar

Get full text

Improving cell-specific recombination using AAV vectors in the murine CNS by capsid and expression cassette optimization by Hayato Kawabata, Ayumu Konno, Yasunori Matsuzaki, Yumika Sato, Mika Kawachi, Ryo Aoki, Saki Tsutsumi, Shota Togai, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Hirokazu Hirai

“…Here, we resolved this paradoxical event by dividing a single AAV into two mGfaABC1D-promoter-driven AAV vectors, one expressing codon-optimized flippase (FlpO) and another expressing flippase recognition target–flanked rapidly degrading Cre (dCre), together with switching the neuron-tropic PHP.eB capsid to astrocyte-tropic AAV-F. …”
Get full text

Distinguishing features of Lycium L. species (family Solanaceae) distributed in Egypt based on their anatomical, metabolic, molecular, and ecological characteristics by Osama G. Ragab, Diaa Mamdouh, Diaa Mamdouh, Ramadan Bedair, Iryna Smetanska, Nazim S. Gruda, Sawsan K. M. Yousif, Rihab M. Omer, Ashwaq T. Althobaiti, Hany S. Abd El-Raouf, Hany S. Abd El-Raouf, Ahmed M. El-Taher, Ashraf S. El-Sayed, Marwa M. Eldemerdash

“…In addition to analysis of their anatomical and ecological features, DNA barcoding was performed for molecular characterization through internal transcribed spacer (ITS) sequencing and start codon targeted (SCoT) markers. Furthermore, metabolic profiling of the studied species was conducted based on gas chromatography–mass spectrometry (GC-MS). …”
Get full text

Comparative genomics and phylogenomics of the genus Glycyrrhiza (Fabaceae) based on chloroplast genomes by Liwei Wu, Panhui Fan, Jiaying Cai, Chenxi Zang, Yulin Lin, Zhichao Xu, Zhengjun Wu, Wei Gao, Jingyuan Song, Jingyuan Song, Hui Yao, Hui Yao

“…Comparative genomics results showed that the chloroplast genomes of Glycyrrhiza showed typically lacking inverted repeat regions, and the genome length, structure, GC content, codon usage, and gene distribution were highly similar. …”
Get full text