A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family by Xing-Chao Shentu

“…Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in <i>EPHA2</i> gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.…”
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Engineering an efficient secretion of leech carboxypeptidase inhibitor in <it>Escherichia coli</it> by Puertas Juan-Miguel, Betton Jean-Michel

“…The best combination of these factors acting on translation and export was obtained when the signal sequence of DsbA was fused to an <it>E. coli </it>codon-optimized mature LCI sequence. When tested in high cell density cultures, the protein was primarily found in the growth medium. …”
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Complete mitogenome of the chlorophyte green alga Marsupiomonas sp. NIES 1824 (Pedinophyceae) by Monique Turmel, Christian Otis, Claude Lemieux

“…Besides gradual gene erosion, our comparative analyses revealed that major changes in GC content and codon usage led to the gain of distinct, noncanonical genetic codes during evolution of the mitogenome in the Pedinophyceae.…”
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Tipping Points in Seaweed Genetic Engineering: Scaling Up Opportunities in the Next Decade by Hanzhi Lin, Song Qin

“…This study discusses several newly sequenced seaweed nuclear genomes and the necessity that research on vector design should consider endogenous promoters, codon optimization, and gene copy number. Seaweed viruses and artificial transposons can be applied as transformation methods after acquiring a comprehensive understanding of the mechanism of viral infections in seaweeds and transposon patterns in seaweed genomes. …”
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A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q by Fan Zhang, Liang Zhang

“…The majority of disease-causing mutations in most cases of HA20 comprise single nucleotide variations, small insertions, or deletions in TNFAIP3, which result in a premature termination codon and subsequent disruption of its anti-inflammatory role. …”
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How to manage KRAS G12C-mutated advanced non-small-cell lung cancer by Biagio Ricciuti, Alessia Mira, Elisa Andrini, Pietro Scaparone, Sandra Vietti Michelina, Federica Pecci, Luca Cantini, Andrea De Giglio, Giuseppe Lamberti, Chiara Ambrogio, Giulio Metro

“…In non-small-cell lung cancer (NSCLC) activating KRAS mutations occur in ~30% of cases, and the glycine to cysteine substitution at codon 12 (G12C) is the most common KRAS alteration. …”
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DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING by A. I. Yershova, N. V. Shcherbakova, A. A. Suvorova, E. Y. Hlebus, I. V. Sidonets, A. N. Meshkov, S. A. Boytsov

“…This mutation leads to a premature stop codon with violation of apolipoprotein B-100 synthesis and causes inherited monogenic disease - family hypobetalipoproteinemia.…”
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Characterization of the complete mitochondrial genome sequence of Tanichthys albiventris and phylogenetic analysis by Tiezhu Yang, Chenxi Tan, Wenhao Sun, Dongpu Li, Liangjie Zhao, Fan Li

“…All PCGs have the same start codon of the standard ATG, excepting for that of cytochrome c oxidase 1 (cox1) which is the GTG. …”
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Improving the Secretory Expression of an -Galactosidase from Aspergillus niger in Pichia pastoris. by Xianliang Zheng, Bo Fang, Dongfei Han, Wenxia Yang, Feifei Qi, Hui Chen, Shengying Li

“…In this study, the secretory expression of an Aspergillus niger α-galactosidase (AGA) in Pichia pastoris was systematically investigated. Through codon optimization, signal peptide replacement, comparative selection of host strain, and saturation mutagenesis of the P1' residue of Kex2 protease cleavage site for efficient signal peptide removal, a mutant P. pastoris KM71H (Muts) strain of AGA-I with the specific P1' site substitution (Glu to Ile) demonstrated remarkable extracellular α-galactosidase activity of 1299 U/ml upon a 72 h methanol induction in 2.0 L fermenter. …”
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Production of sweet protein, brazzein, as ubiquitin fusion. by Wong, Kok Seong.

“…Currently there is no gene for brazzein isolated from its plants of origin; therefore a synthetic gene is designed based on the optimised expression and codon biased of E.coli. The construction of pET30 expression vector helped to increase the expression levels of brazzein in E.coli and MALDI-MS confirmed that the purified protein was the desired brazzein-ubiquitin protein. …”
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Characterization of beta-globin mRNA in the beta0 thalassemias. by Old, J, Proudfoot, N, Wood, W, Longley, J, Clegg, J, Weatherall, D

“…Depurination products from 5' and 3' beta-cDNAs synthesized from this latter mRNA were identical to those from normal beta-globin mRNA, but the relative yields were different, suggesting a possible defect near the initiation codon.…”

Large-scale candidate gene study of leprosy susceptibility in the Karonga district of northern Malawi. by Fitness, J, Floyd, S, Warndorff, D, Sichali, L, Mwaungulu, L, Crampin, A, Fine, P, Hill, A

“…Homozygotes for a silent T--&gt;C change in codon 352 of the vitamin D receptor gene appeared to be at high risk (odds ratio [OR] = 4.3, 95% confidence interval [CI] = 1.6-11.4, P = 0.004), while homozygotes for the McCoy b blood group defining variant K1590E in exon 29 of the complement receptor 1 (formerly CD35) gene appeared to be protected (OR = 0.3, 95% CI = 0.1-0.8, P = 0.02). …”

A transgenic mouse model of sickle cell disorder. by Greaves, D, Fraser, P, Vidal, M, Hedges, M, Ropers, D, Luzzatto, L, Grosveld, F

“…A single base-pair mutation (beta s) in codon 6 of the human beta-globin gene, causing a single amino-acid substitution, is the cause of sickle cell anaemia. …”

Reconfiguration of yeast 40S ribosomal subunit domains by the translation initiation multifactor complex. by Gilbert, R, Gordiyenko, Y, von der Haar, T, Sonnen, A, Hofmann, G, Nardelli, M, Stuart, D, McCarthy, J

“…In the process of protein synthesis, the small (40S) subunit of the eukaryotic ribosome is recruited to the capped 5' end of the mRNA, from which point it scans along the 5' untranslated region in search of a start codon. However, the 40S subunit alone is not capable of functional association with cellular mRNA species; it has to be prepared for the recruitment and scanning steps by interactions with a group of eukaryotic initiation factors (eIFs). …”

Evidence for different mechanisms of chloroquine resistance in 2 Plasmodium species that cause human malaria. by Nomura, T, Carlton, J, Baird, J, del Portillo, H, Fryauff, D, Rathore, D, Fidock, D, Su, X, Collins, W, McCutchan, T, Wootton, J, Wellems, T

“…However, a survey of patient isolates and monkey-adapted lines has shown no association between in vivo CQR and codon mutations in the P. vivax gene. This is evidence that the molecular events underlying P. vivax CQR differ from those in P. falciparum.…”

Conformational pH dependence of intermediate states during oligomerization of the human prion protein. by Gerber, R, Tahiri-Alaoui, A, Hore, P, James, W

“…The presence of methionine rather than valine at codon 129 accelerates the rate of oligomer formation from the intermediate state.…”

Assembly and crystallization of the complex between the human T cell coreceptor CD8alpha homodimer and HLA-A2. by Gao, G, Gerth, U, Wyer, JR, Willcox, B, O'Callaghan, C, Zhang, Z, Jones, E, Bell, J, Jakobsen, B

“…A strategy for overexpression in Escherichia coli of the extracellular immunoglobulin domain of human CD8alpha was devised using codon usage alterations in the 5' region of the gene, designed so as to prevent the formation of secondary structures in the mRNA. …”

A population genetics-phylogenetics approach to inferring natural selection in coding sequences. by Wilson, D, Hernandez, R, Andolfatto, P, Przeworski, M

“…We introduce a novel method for the analysis of variation in selection pressures within and between species, spatially along the genome and temporally between lineages. We model codon evolution explicitly using a joint population genetics-phylogenetics approach that we developed for the construction of multiallelic models with mutation, selection, and drift. …”

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. by Goriely, A, Hansen, R, Taylor, I, Olesen, I, Jacobsen, G, McGowan, S, Pfeifer, S, Mcvean, G, Rajpert-De Meyts, E, Wilkie, A

“…Massively parallel sequencing of sperm DNA showed that levels of the FGFR3 mutation increase with paternal age and that the mutation spectrum at the Lys650 codon is similar to that observed in bladder cancer. …”

Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia. by Miotto, O, Almagro-Garcia, J, Manske, M, Macinnis, B, Campino, S, Rockett, K, Amaratunga, C, Lim, P, Suon, S, Sreng, S, Anderson, J, Duong, S, Nguon, C, Chuor, C, Saunders, D, Se, Y, Lon, C, Fukuda, M, Amenga-Etego, L, Hodgson, A, Asoala, V, Imwong, M, Takala-Harrison, S, Nosten, F, Su, X

“…We provide a catalog of SNPs that show high levels of differentiation in the artemisinin-resistant subpopulations, including codon variants in transporter proteins and DNA mismatch repair proteins. …”