A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. by Couto, A, Bruges-Armas, J, Peach, C, Chapman, K, Brown, M, Wordsworth, B, Zhang, Y

“…We found a novel C to T substitution at position 2032 bp (cDNA) in exon 8 of LEMD3, resulting in a premature stop codon at amino acid position 678. This mutation co-segregates with the osteopoikilosis phenotype in both the Azorean family and the Irish family. …”

High-throughput expression and purification of human solute carriers for structural and biochemical studies by Raturi, S, Li, H, Chang, Y-N, Scacioc, A, Bohstedt, T, Fernandez-Cid, A, Evans, A, Abrusci, P, Balakrishnan, A, Pascoa, TC, He, D, Chi, G, Kaur Singh, N, Ye, M, Li, A, Shrestha, L, Wang, D, Williams, EP, Burgess-Brown, NA, Dürr, KL, Puetter, V, Ingles-Prieto, A, Sauer, DB

“…Here, we demonstrate methods to obtain high-purity, milligram quantities of human SLC transporter proteins using codon-optimized gene sequences. In conjunction with a systematic exploration of construct design and high-throughput expression, these protocols ensure the preservation of the structural integrity and biochemical activity of the target proteins. …”

Enteric fever in Cambodian children is dominated by multidrug-resistant H58 Salmonella enterica serovar Typhi with intermediate susceptibility to ciprofloxacin. by Emary, K, Moore, C, Chanpheaktra, N, An, K, Chheng, K, Sona, S, Duy, P, Nga, T, Wuthiekanun, V, Amornchai, P, Kumar, V, Wijedoru, L, Stoesser, N, Carter, M, Baker, S, Day, N, Parry, C

“…In a sample of 102 serovar Typhi strains genotyped by investigation of a subset of single nucleotide polymorphisms, 98 (96%) were the H58 haplotype, the majority of which had the common serine to phenylalanine substitution at codon 83 in the DNA gyrase. We conclude that antimicrobial-resistant enteric fever is common in Cambodian children and therapeutic options are limited.…”

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges. by Burren, C, Curley, A, Christie, P, Rodda, C, Thakker, R

“…DNA sequence analysis, identified a mutation in exon 3, codon 129 (TGC-->TAC) of the CaSR gene of seven affected family members, resulting in loss of a conserved cysteine residue, potentially disrupting CaSR receptor dimerisation. …”

The genomic rate of molecular adaptation of the human influenza A virus. by Bhatt, S, Holmes, E, Pybus, O

“…Notably, we find that the rate of adaptation (per codon per year) is higher in surface residues of the viral neuraminidase than in HA1, indicating strong antibody-mediated selection on the former. …”

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome by Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A

“…<br/><br/> <b>Case presentation:</b> Here we describe two families, each segregating a different, previously unreported FGFR2 mutation of the same nucleotide, c.1083A&gt;G and c.1083A&gt;T, both of which encode an apparently synonymous change at the Pro361 codon. We provide experimental evidence that these mutations affect normal FGFR2 splicing and document the clinical consequences, which include a mild Crouzon syndrome phenotype and reduced penetrance of craniosynostosis.…”

Molecular analysis of Mycobacterium tuberculosis DNA from a family of 18th century Hungarians. by Fletcher, H, Donoghue, H, Taylor, G, van der Zanden, A, Spigelman, M

“…DNA was amplified from a number of targets on the Mycobacterium tuberculosis genome, including DNA from IS6110, gyrA, katG codon 463, oxyR, dnaA-dnaN, mtp40, plcD and the direct repeat (DR) region. …”

Hb S-β-thalassemia: molecular, hematological and clinical comparisons. by Serjeant, G, Serjeant, B, Fraser, R, Hambleton, I, Higgs, D, Kulozik, A, Donaldson, A

“…Mutations causing Hb S [β6(A3)Glu→Val]-β(0)-thal were IVS-II-849 (A&gt;G) in 44%, frameshift codon (FSC) 6 (-A) in 14%, Hb Monroe [β30(B12)Arg→Thr] in 14%, and IVS-II-1 (G&gt;A) in 10%. …”

Vitamin D receptor gene polymorphism: association with Crohn's disease susceptibility. by Simmons, J, Mullighan, C, Welsh, K, Jewell, D

“…RESULTS: There were significantly more homozygotes for the TaqI polymorphism at codon 352 of exon 8 (genotype "tt") among patients with Crohn's disease (frequency 0.22) than patients with ulcerative colitis (0.12) or controls (0.12) (odds ratio 1.99; 95% confidence interval 1.14-3.47; p=0.017). …”

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease by Emdin, C, Khera, A, Chaffin, M, Klarin, D, Natarajan, P, Aragam, K, Haas, M, Bick, A, Zekavat, S, Nomura, A, Ardissino, D, Wilson, J, Schunkert, H, McPherson, R, Watkins, H, Elosua, R, Bown, M, Samani, N, Baber, U, Erdmann, J, Gupta, N, Danesh, J, Chasman, D, Ridker, P, Denny, J, Bastarache, L, Lichtman, J, D'Onofrio, G, Mattera, J, Spertus, J, Sheu, W, Taylor, K, Psaty, B, Rich, S, Post, W, Rotter, J, Chen, Y, Krumholz, H, Saleheen, D, Gabriel, S, Kathiresan, S

“…Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. …”

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. by Zhang, Y, Castori, M, Ferranti, G, Paradisi, M, Wordsworth, B

“…We identified two different mutations, both resulting in a premature stop codon, in the two cases of BOS. The mutation (c.2564G&gt;A) reported in the familial case is novel, while that observed in the sporadic case (c.1963C&gt;T) has been previously reported in an American woman with osteopoikilosis and melorheostosis who had a family history of isolated osteopoikilosis. …”

RPGR gene therapy presents challenges in cloning the coding sequence by Martinez-Fernandez De La Camara, C, Cehajic-Kapetanovic, J, MacLaren, RE

“…These three vectors differ in the adeno-associated viral (AAV) vector capsid used, and the coding sequences: two contain codon optimized versions of RPGR which give the full-length protein, whilst the third uses a wild-type sequence that contains a large deletion encoding part of the functional domain of the RPGR protein.…”

A simian replication-defective adenoviral recombinant vaccine to HIV-1 gag. by Fitzgerald, J, Gao, G, Reyes-Sandoval, A, Pavlakis, G, Xiang, Z, Wlazlo, A, Giles-Davis, W, Wilson, J, Ertl, H

“…An AdC68 construct expressing a codon-optimized, truncated form of gag of HIV-1 induces CD8(+) T cells to gag in mice which at the height of the immune response encompass nearly 20% of the entire splenic CD8(+) T cell population. …”

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. by Wu, X, Ye, Y, Kiemeney, L, Sulem, P, Rafnar, T, Matullo, G, Seminara, D, Yoshida, T, Saeki, N, Andrew, A, Dinney, C, Czerniak, B, Zhang, Z, Kiltie, A, Bishop, D, Vineis, P, Porru, S, Buntinx, F, Kellen, E, Zeegers, M, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, Mayordomo, J

“…Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. …”

Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP. by Suraweera, N, Latchford, A, McCart, A, Rogers, P, Spain, S, Sieber, O, Phillips, R, Tomlinson, I, Silver, A

“…On the other hand, having a pregnancy significantly increased the proportion of women that attained the highest Spigelman stage when their APC germline mutation occurred within the mutation cluster region or at or after codon 1020 (50%, 6/12, p = 0.005 and 42%, 13/31, p = 0.006, respectively; multivariable logistic regression). …”

Blimp-1/Prdm1 alternative promoter usage during mouse development and plasma cell differentiation. by Morgan, M, Magnusdottir, E, Kuo, T, Tunyaplin, C, Harper, J, Arnold, S, Calame, K, Robertson, E, Bikoff, E

“…All three alternative first exons splice directly to exon 3, containing the translational start codon. To examine possible cell-type-specific functional activities in vivo, we generated targeted deletions that selectively eliminate two of these transcriptional start sites. …”

Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. by Bellamy, R, Ruwende, C, McAdam, K, Thursz, M, Sumiya, M, Summerfield, J, Gilbert, S, Corrah, T, Kwiatkowski, D, Whittle, H, Hill, A

“…The most common mutation in Africans, the codon 57 variant allele, was weakly associated with resistance to TB (221/794 in TB cases and 276/844 in controls, p = 0.037). …”

Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1 by Tavares, VL, Kague, E, Musso, CM, Alegria, TGP, Freitas, RS, Bertola, D, Twigg, SRF, Passos-Bueno, MR

“…Although many variants have been found in the coding region of EFNB1, only 2 pathogenic variants have been identified in the same nucleotide in 5′UTR, disrupting the stop codon of an upstream open reading frame (uORF). uORFs are known to be part of a wide range of post-transcriptional regulation processes, and just recently, their association with human diseases has come to light. …”

A single amino-acid substitution in the iron-sulphur protein subunit of succinate dehydrogenase determines resistance to carboxin in Mycosphaerella graminicola. by Skinner, W, Bailey, A, Renwick, A, Keon, J, Gurr, S, Hargreaves, J

“…Expression studies using a synthetic green fluorescent protein (SGFP) expression vector demonstrated that the cloned DNA also contained a functional promoter region and confirmed that the deduced initiation codon could act as a translational start site. Mutants resistant to the fungicide carboxin (Cbx), a known inhibitor of Sdh, were found to contain a single amino-acid substitution in the third cysteine-rich domain of the Ip protein. …”

Molecular epidemiology of Malaysian dengue 2 viruses isolated over twenty-five years (1968-1993) by Fong, M.Y., Koh, C.L., Lam, S.K.

“…Alignment and comparison of the nucleotide and deduced amino acid sequences of the isolates revealed that nucleotide changes occurred mostly at the third position of a particular codon and were of the transition (A<->G, C<->U) type. …”
Get full text