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Journal articles on the topic 'Nonsense mutation'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 March 2023

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1

Okubo, Mariko, Satoru Noguchi, Shinichiro Hayashi, et al. "Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy." Human Genetics 139, no. 2 (2020): 247–55. http://dx.doi.org/10.1007/s00439-019-02107-4.

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AbstractDuchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation. Interestingly, however, some patients with a nonsense mutation exhibit BMD phenotype, which is mostly attributed to the skipping of the exon containing the nonsense mutation, resulting in in-frame deletion. This study aims to find BMD cases with nonsense/frameshift mutations in DMD and to investigate the exon skipping rate of those nonsense/frameshift mutations. We s

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2

Romão, Luı́sa, Ângela Inácio, Susana Santos та ін. "Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation". Blood 96, № 8 (2000): 2895–901. http://dx.doi.org/10.1182/blood.v96.8.2895.

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Abstract Generally, nonsense codons 50 bp or more upstream of the 3′-most intron of the human β-globin gene reduce mRNA abundance. In contrast, dominantly inherited β-thalassemia is frequently associated with nonsense mutations in the last exon. In this work, murine erythroleukemia (MEL) cells were stably transfected with human β-globin genes mutated within each of the 3 exons, namely at codons 15 (TGG→TGA), 39 (C→T), or 127 (C→T). Primer extension analysis after erythroid differentiation induction showed codon 127 (C→T) mRNA accumulated in the cytoplasm at approximately 20% of the normal mRNA

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3

Romão, Luı́sa, Ângela Inácio, Susana Santos та ін. "Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation". Blood 96, № 8 (2000): 2895–901. http://dx.doi.org/10.1182/blood.v96.8.2895.h8002895_2895_2901.

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Generally, nonsense codons 50 bp or more upstream of the 3′-most intron of the human β-globin gene reduce mRNA abundance. In contrast, dominantly inherited β-thalassemia is frequently associated with nonsense mutations in the last exon. In this work, murine erythroleukemia (MEL) cells were stably transfected with human β-globin genes mutated within each of the 3 exons, namely at codons 15 (TGG→TGA), 39 (C→T), or 127 (C→T). Primer extension analysis after erythroid differentiation induction showed codon 127 (C→T) mRNA accumulated in the cytoplasm at approximately 20% of the normal mRNA level. C

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4

Rao, Vamshi K., Christine J. DiDonato, and Paul D. Larsen. "Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases." Case Reports in Neurological Medicine 2018 (August 9, 2018): 1–5. http://dx.doi.org/10.1155/2018/8587203.

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Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense

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5

Kataoka, Hiroshi, Hinata Fukuoka, Shiho Makabe, et al. "Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations." Journal of Clinical Medicine 9, no. 1 (2020): 146. http://dx.doi.org/10.3390/jcm9010146.

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Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position. A total of 123 patients

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Lin, Fu-Jun, Lei Yao, Xue-Qing Hu, et al. "First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis." Clinical Science 133, no. 1 (2019): 9–21. http://dx.doi.org/10.1042/cs20180676.

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Abstract Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the PODXL gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree. However, this PODXL mutation appeared not to impair podocalyxin function, and it is necessary to identify new PODXL mutations and determine their causative role for FSGS. In the present study, we report the identification of a heterozygous nonsense PODXL mutation (c.C976T; p. Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exo

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7

Li, Shaoqun, Mingyao Lai, and Linbo Cai. "OTHR-25 Germline Mutations in Pediatric Brain Tumor." Neuro-Oncology 24, Supplement_1 (2022): i152. http://dx.doi.org/10.1093/neuonc/noac079.564.

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Abstract BACKGROUND: The exploration of germline mutations in pediatric brain tumor is helpful to improve the understanding of tumor genesis, guide the treatment, and provide genetic counseling for patients and their families. METHODS: In this study, children with primary brain tumor aged ≤18 years old in Guangdong Sanjiu Brain Hospital were enrolled．Tumor tissue or cerebrospinal fluid (CSF) next-generation sequencing (NGS) tests were required for all included patients. The genetic mutations in these children were analyzed and patients with germline mutations were screened. RESULTS: 135 pediat

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8

Belgrader, P., and L. E. Maquat. "Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping." Molecular and Cellular Biology 14, no. 9 (1994): 6326–36. http://dx.doi.org/10.1128/mcb.14.9.6326-6336.1994.

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In an effort to understand the mechanisms by which nonsense codons affect RNA metabolism in mammalian cells, nonsense mutations were generated within the gene for the secretory major urinary protein (MUP) of mice. The translation of MUP mRNA normally begins within exon 1 and terminates within exon 6, the penultimate exon. Through the use of Northern (RNA) blot hybridization and assays that couple reverse transcription and PCR, a nonsense mutation within codon 50 of exon 2 or codon 143 of exon 5 was found to reduce the abundance of fully spliced, nuclear MUP mRNA to 10 to 20% of normal without

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Belgrader, P., and L. E. Maquat. "Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping." Molecular and Cellular Biology 14, no. 9 (1994): 6326–36. http://dx.doi.org/10.1128/mcb.14.9.6326.

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In an effort to understand the mechanisms by which nonsense codons affect RNA metabolism in mammalian cells, nonsense mutations were generated within the gene for the secretory major urinary protein (MUP) of mice. The translation of MUP mRNA normally begins within exon 1 and terminates within exon 6, the penultimate exon. Through the use of Northern (RNA) blot hybridization and assays that couple reverse transcription and PCR, a nonsense mutation within codon 50 of exon 2 or codon 143 of exon 5 was found to reduce the abundance of fully spliced, nuclear MUP mRNA to 10 to 20% of normal without

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10

Guo, Zhiping, Linhua Yang, Xiuyu Qin, Xiue Liu, and Yaofang Zhang. "Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations." Clinical and Applied Thrombosis/Hemostasis 24, no. 1 (2017): 70–78. http://dx.doi.org/10.1177/1076029616687848.

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Hemophilia A (HA) is an X-linked bleeding disorder caused by heterogeneous mutations in the factor VIII gene ( F8). Our aim is to identify the causative mutations in a large HA cohort from China. We studied 216 unrelated HA families. Molecular analyses of F8 were performed using a combination of molecular techniques, including polymerase chain reaction, direct sequencing, and multiplex ligation-dependent probe amplification. The deleterious consequences of the unreported missense mutations were evaluated using various bioinformatics approaches. Causative mutations in F8 were identified in 209

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11

Dietz, HC, D. Valle, CA Francomano, RJ Kendzior, RE Pyeritz, and GR Cutting. "The skipping of constitutive exons in vivo induced by nonsense mutations." Science 259, no. 5095 (1993): 680–83. http://dx.doi.org/10.1126/science.8430317.

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Nonsense mutations create a premature signal for the termination of translation of messenger RNA. Such mutations have been observed to cause a severe reduction in the amount of mutant allele transcript or to generate a peptide truncated at the carboxyl end. Analysis of fibrillin transcript from a patient with Marfan syndrome revealed the skipping of a constitutive exon containing a nonsense mutation. Similar results were observed for two nonsense mutations in the gene encoding ornithine delta-aminotransferase from patients with gyrate atrophy. All genomic DNA sequences flanking these exons tha

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Long, Lu, Xudong Yang, Mark Southwood, et al. "Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension." Pulmonary Circulation 10, no. 3 (2020): 204589402093578. http://dx.doi.org/10.1177/2045894020935783.

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Pulmonary arterial hypertension is a fatal disorder of the lung circulation in which accumulation of vascular cells progressively obliterates the pulmonary arterioles. This results in sustained elevation in pulmonary artery pressure leading eventually to right heart failure. Approximately, 80% of familial and 20% of sporadic idiopathic pulmonary arterial hypertension cases are caused by mutations in the bone morphogenetic protein receptor type 2 (BMPR2). Nonsense mutations in BMPR2 are amongst the most common mutations found, where the insertion of a premature termination codon causes mRNA deg

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13

Samanta, Ananya, Katarina Stingl, Susanne Kohl, Jessica Ries, Joshua Linnert, and Kerstin Nagel-Wolfrum. "Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations." International Journal of Molecular Sciences 20, no. 24 (2019): 6274. http://dx.doi.org/10.3390/ijms20246274.

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The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs; TRIDs) have the potential to mediate the read-through of nonsense mutations by inducing expression of the full-length protein. We provide novel data on t

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14

Pankov, Yury Alexandrovich. "Diabetes mellitus and other pathology in patients with INS and INSR mutations." Diabetes mellitus 15, no. 4 (2012): 11–16. http://dx.doi.org/10.14341/2072-0351-5532.

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Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules. In heterozygous state they cause insulin deficiency and PND. Over 10 recessive mutations and the p.Q62X nonsense mutation of INS do not induce synthesis of anomalous protein, being associated with PND only in homozygous state. Most of significant mutations that induce insulin resistance, lipodystrophy, and other pathology were found in INSR gene. Lipodistrophy suggests an important role of insulin in stimul

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15

Nakahara, Yoshifumi, Hajime Tsuji, Katsumi Nakagawa, et al. "Genetic Analysis in Japanese Kindreds of Congenital Type I Antithrombin Deficiency Causing Thrombosis." Thrombosis and Haemostasis 77, no. 04 (1997): 616–19. http://dx.doi.org/10.1055/s-0038-1656021.

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SummaryWe have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanease kindreds with congenital type I antithrombin deficiency. The deletion detected in case 1 represented a symmetric element (CTCTGTCTC) and possessed a direct repeat (CTCTATGTCTC). The deletion in case 2 was recognized in a consensus sequence (TGAAT) and possessed a direct

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Cai, Bi-He, Yun-Chien Hsu, Fang-Yu Yeh, et al. "P63 and P73 Activation in Cancers with p53 Mutation." Biomedicines 10, no. 7 (2022): 1490. http://dx.doi.org/10.3390/biomedicines10071490.

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The members of the p53 family comprise p53, p63, and p73, and full-length isoforms of the p53 family have a tumor suppressor function. However, p53, but not p63 or p73, has a high mutation rate in cancers causing it to lose its tumor suppressor function. The top and second-most prevalent p53 mutations are missense and nonsense mutations, respectively. In this review, we discuss possible drug therapies for nonsense mutation and a missense mutation in p53. p63 and p73 activators may be able to replace mutant p53 and act as anti-cancer drugs. Herein, these p63 and p73 activators are summarized an

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Kadioglu, Onat, Mohamed Saeed, Markus Munder, Andreas Spuller, Henry Johannes Greten, and Thomas Efferth. "Identification of Novel Rare ABCC1 Transporter Mutations in Tumor Biopsies of Cancer Patients." Cells 9, no. 2 (2020): 299. http://dx.doi.org/10.3390/cells9020299.

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The efficiency of chemotherapy drugs can be affected by ATP-binding cassette (ABC) transporter expression or by their mutation status. Multidrug resistance is linked with ABC transporter overexpression. In the present study, we performed rare mutation analyses for 12 ABC transporters related to drug resistance (ABCA2, -A3, -B1, -B2, -B5, -C1, -C2, -C3, -C4, -C5, -C6, -G2) in a dataset of 18 cancer patients. We focused on rare mutations resembling tumor heterogeneity of ABC transporters in small tumor subpopulations. Novel rare mutations were found in ABCC1, but not in the other ABC transporter

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Birch, Nigel P., Peter J. Browett, Paul B. Coughlin, et al. "Two missense mutations identified in venous thrombosis patients impair the inhibitory function of the protein Z dependent protease inhibitor." Thrombosis and Haemostasis 107, no. 05 (2012): 854–63. http://dx.doi.org/10.1160/th11-10-0708.

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SummaryProtein Z-dependent protease inhibitor (ZPI) is a plasma inhibitor of factor (F)Xa and FXIa. In an earlier study, five mutations were identified within the ZPI gene of venous thrombosis patients and healthy controls. Two of these were nonsense mutations and three were missense mutations in important regions of the protein. Here we report that two of these latter three mutations, F145L and Q384R, impair the inhibitory function of ZPI in vitro. Recombinant wild-type and mutant proteins were prepared; stability in response to thermal challenge was similar. Inhibition of FXa in the presence

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Morozov, Igor Y., Susana Negrete-Urtasun, Joan Tilburn, Christine A. Jansen, Mark X. Caddick, and Herbert N. Arst. "Nonsense-Mediated mRNA Decay Mutation in Aspergillus nidulans." Eukaryotic Cell 5, no. 11 (2006): 1838–46. http://dx.doi.org/10.1128/ec.00220-06.

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ABSTRACT An Aspergillus nidulans mutation, designated nmdA1, has been selected as a partial suppressor of a frameshift mutation and shown to truncate the homologue of the Saccharomyces cerevisiae nonsense-mediated mRNA decay (NMD) surveillance component Nmd2p/Upf2p. nmdA1 elevates steady-state levels of premature termination codon-containing transcripts, as demonstrated using mutations in genes encoding xanthine dehydrogenase (hxA), urate oxidase (uaZ), the transcription factor mediating regulation of gene expression by ambient pH (pacC), and a protease involved in pH signal transduction (palB

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Zhang, Chi, Mingming Wang, Yun Xiao, et al. "A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing Loss." Neural Plasticity 2016 (2016): 1–10. http://dx.doi.org/10.1155/2016/1512831.

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POU4F3gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system. Several mutations ofPOU4F3have been reported to cause autosomal dominant nonsyndromic hearing loss in recent years. In this study, we describe a pathogenic nonsense mutation located inPOU4F3in a four-generation Chinese family. Target region capture sequencing was performed to search for the candidate mutations from 81 genes related to nonsyndromic hearing loss in this family. A novel nonsense mutation ofPOU4F3, c.337C>T (p.Gln113⁎), was id

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Sainio, Markus T., Emil Ylikallio, Laura Mäenpää, et al. "Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy." Neurology Genetics 4, no. 3 (2018): e244. http://dx.doi.org/10.1212/nxg.0000000000000244.

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ObjectiveWe used patient-specific neuronal cultures to characterize the molecular genetic mechanism of recessive nonsense mutations in neurofilament light (NEFL) underlying early-onset Charcot-Marie-Tooth (CMT) disease.MethodsMotor neurons were differentiated from induced pluripotent stem cells of a patient with early-onset CMT carrying a novel homozygous nonsense mutation in NEFL. Quantitative PCR, protein analytics, immunocytochemistry, electron microscopy, and single-cell transcriptomics were used to investigate patient and control neurons.ResultsWe show that the recessive nonsense mutation

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Venturini, Arianna, Anna Borrelli, Ilaria Musante, et al. "Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene." International Journal of Molecular Sciences 22, no. 21 (2021): 11972. http://dx.doi.org/10.3390/ijms222111972.

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Cystic fibrosis (CF) is caused by loss of function of the CFTR chloride channel. A substantial number of CF patients carry nonsense mutations in the CFTR gene. These patients cannot directly benefit from pharmacological correctors and potentiators that have been developed for other types of CFTR mutations. We evaluated the efficacy of combinations of drugs targeting at various levels the effects of nonsense mutations: SMG1i to protect CFTR mRNA from nonsense-mediated decay (NMD), G418 and ELX-02 for readthrough, VX-809 and VX-445 to promote protein maturation and function, PTI-428 to enhance C

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Negoro, Hiroaki, Atsushi Kotaka, and Hiroki Ishida. "Mutation in gene coding for glucose-induced degradation-deficient protein contributes to high malate production in yeast strain No. 28 and No. 77 used for industrial brewing of sake." Bioscience, Biotechnology, and Biochemistry 85, no. 5 (2021): 1283–89. http://dx.doi.org/10.1093/bbb/zbab031.

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ABSTRACT Saccharomyces cerevisiae produces organic acids including malate during alcohol fermentation. Since malate contributes to the pleasant flavor of sake, high-malate-producing yeast strain No. 28 and No. 77 have been developed by the Brewing Society of Japan. In this study, the genes responsible for the high malate phenotype in these strains were investigated. We had previously found that the deletion of components of the glucose-induced degradation-deficient (GID) complex led to high malate production in yeast. Upon examining GID protein–coding genes in yeast strain No. 28 and No. 77, a

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Liu, Ji-Shi, Liang-Liang Fan, Hao Zhang, et al. "Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy." Cardiology 136, no. 1 (2016): 10–14. http://dx.doi.org/10.1159/000447422.

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Objectives: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. Methods: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequencing was applied to confirm the mutation cosegregation in the affected families. Results: A nonsen

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Sakuma, Naoko, Hideaki Moteki, Hela Azaiez, et al. "Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss." Annals of Otology, Rhinology & Laryngology 124, no. 1_suppl (2015): 184S—192S. http://dx.doi.org/10.1177/0003489415575041.

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Objectives: We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. Methods: Two hundred twenty (220) Japanese subjects with SNHL from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment with massively parallel DNA sequencing of all known nonsyndromic hearing loss genes was performed to identify the genetic cause of hearing loss. Results: Four novel causative PTPRQ mutations were identified in 3 cases. Case 1 had progressive profound SNHL with

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Vierimaa, O., T. M. L. Ebeling, S. Kytölä, et al. "Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype–phenotype correlation." European Journal of Endocrinology 157, no. 3 (2007): 285–94. http://dx.doi.org/10.1530/eje-07-0195.

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Objective: The existence of genotype–phenotype correlation in multiple endocrine neoplasia type 1 (MEN1) is controversial. Two founder mutations of the MEN1 gene in Northern Finland gave us an opportunity to compare clinical features among heterozygotes of different mutations. Design and methods: Study cohort included 82 MEN1 heterozygotes who were tested for MEN1 during the years 1982–2001. Medical records were reviewed for manifestations of MEN1, other tumours and cause of death by the end of August 2003. Logistic regression analysis was used in evaluating the impact of age, gender and mutat

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Singaravelan, B., B. R. Roshini, and M. Hussain Munavar. "Evidence that the supE44 Mutation of Escherichia coli Is an Amber Suppressor Allele of glnX and that It Also Suppresses Ochre and Opal Nonsense Mutations." Journal of Bacteriology 192, no. 22 (2010): 6039–44. http://dx.doi.org/10.1128/jb.00474-10.

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ABSTRACT Translational readthrough of nonsense codons is seen not only in organisms possessing one or more tRNA suppressors but also in strains lacking suppressors. Amber suppressor tRNAs have been reported to suppress only amber nonsense mutations, unlike ochre suppressors, which can suppress both amber and ochre mutations, essentially due to wobble base pairing. In an Escherichia coli strain carrying the lacZU118 episome (an ochre mutation in the lacZ gene) and harboring the supE44 allele, suppression of the ochre mutation was observed after 7 days of incubation. The presence of the supE44 l

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Bezzerri, Valentino, Laura Lentini, Martina Api, et al. "Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome." Biomedicines 10, no. 4 (2022): 886. http://dx.doi.org/10.3390/biomedicines10040886.

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Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutati

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Lee, Yejin, Hong Zhang, Figen Seymen, et al. "Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta." Journal of Personalized Medicine 12, no. 2 (2022): 150. http://dx.doi.org/10.3390/jpm12020150.

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Amelogenesis imperfecta (AI) is a group of rare genetic diseases affecting the tooth enamel. AI is characterized by an inadequate quantity and/or quality of tooth enamel and can be divided into three major categories: hypoplastic, hypocalcified and hypomaturation types. Even though there are some overlapping phenotypes, hypomaturation AI enamel typically has a yellow to brown discoloration with a dull appearance but a normal thickness indicating a less mineralized enamel matrix. In this study, we recruited four Turkish families with hypomaturation AI and performed mutational analysis using who

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Wang, Bingjing, Zhaohui Yang, Becky K. Brisson, et al. "Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression." Journal of Applied Physiology 109, no. 3 (2010): 901–5. http://dx.doi.org/10.1152/japplphysiol.01366.2009.

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Mutations that result in the loss of the protein dysferlin result in defective muscle membrane repair and cause either a form of limb girdle muscular dystrophy (type 2B) or Miyoshi myopathy. Most patients are compound heterozygotes, often carrying one allele with a nonsense mutation. Using dysferlin-deficient mouse and human myocytes, we demonstrated that membrane blebbing in skeletal muscle myotubes in response to hypotonic shock requires dysferlin. Based on this, we developed an in vitro assay to assess rescue of dysferlin function in skeletal muscle myotubes. This blebbing assay may be usef

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Michorowska, Sylwia. "Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner." Pharmaceuticals 14, no. 8 (2021): 785. http://dx.doi.org/10.3390/ph14080785.

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Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function. However, the translation of transcripts containing premature stop codons resulting in full-length protein expression can be achieved using readthrough agents. Among them, only ataluren was approved in several countries to treat nonsense mutation Duchenne muscular dystrophy (DMD) patients. This review summarizes ataluren’s journey from its identification, via fir

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Chia, W., C. Savakis, R. Karp, and M. Ashbumer. "Adhn4of Drosophila melanogasteris a nonsense mutation." Nucleic Acids Research 15, no. 9 (1987): 3931. http://dx.doi.org/10.1093/nar/15.9.3931.

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Wittenstein, Amnon, Michal Caspi, Yifat David, Yamit Shorer, Prathamesh T. Nadar-Ponniah, and Rina Rosin-Arbesfeld. "Serum starvation enhances nonsense mutation readthrough." Journal of Molecular Medicine 97, no. 12 (2019): 1695–710. http://dx.doi.org/10.1007/s00109-019-01847-0.

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Shih, Lee-Yung, Der-Cherng Liang, Chein-Fuang Huang та ін. "Mutations of Myeloid Transcription Factors AML1, CEBPα and PU.1 in Patients with De Novo Myelodysplastic Syndrome: An Analysis of Paired Bone Marrow Samples at Diagnosis and at AML Transformation." Blood 106, № 11 (2005): 3431. http://dx.doi.org/10.1182/blood.v106.11.3431.3431.

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Abstract Transcription factors AML1, PU.1 and CEBPα are essential for normal hematopoiesis. Recently, somatic mutations of genes encoding these transcription factors have been described in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The role of mutations of these transcription factors in the progression of MDS into AML remained to be determined, as no matched paired samples of both phases have been analyzed in the previous studies. We analyzed mutations of AML1, CEBPα and PU.1 on paired bone marrow samples at initial diagnosis of de novo MDS (8 RCMD, 12 RAEB-1, and 17 RAEB

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Ali, Kashif, Ishrat Mahjabeen, Maimoona Sabir, Humera Mehmood, and Mahmood Akhtar Kayani. "OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data." Disease Markers 2015 (2015): 1–16. http://dx.doi.org/10.1155/2015/690878.

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In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3′UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p<0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3′UTR variant g.9798848G>A. Among intronic

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Weng, Y., K. Czaplinski, and S. W. Peltz. "Genetic and biochemical characterization of mutations in the ATPase and helicase regions of the Upf1 protein." Molecular and Cellular Biology 16, no. 10 (1996): 5477–90. http://dx.doi.org/10.1128/mcb.16.10.5477.

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mRNA degradation is an important control point in the regulation of gene expression and has been linked to the process of translation. One clear example of this linkage is the nonsense-mediated mRNA decay pathway, in which nonsense mutations in a gene can reduce the abundance of the mRNA transcribed from that gene. For the yeast Saccharomyces cerevisiae, the Upf1 protein (Upf1p), which contains a cysteine- and histidine-rich region and nucleoside triphosphate hydrolysis and helicase motifs, was shown to be a trans-acting factor in this decay pathway. Biochemical analysis of the wild-type Upf1p

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Liu, Yi-Lin, Paris Margaritis, Fayaz Khazi, et al. "Nonsense Suppression Approaches in Treating Hemophilia." Blood 112, no. 11 (2008): 512. http://dx.doi.org/10.1182/blood.v112.11.512.512.

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Abstract Genetic diseases can result from nonsense mutations that cause premature translation termination. Nonsense mutations account for ~10–15% of all cases of hemophilia A and B and this population may benefit from small molecule-induced readthrough of nonsense codons. Recent studies document the ability of an orally bioavailable small molecule, PTC124, to facilitate dose-dependent readthrough of nonsense codons in a variety of in vitro and in vivo systems, including reporter gene constructs, mdx mice (a murine model of Duchenne muscular dystrophy; Nature447:87–91, 2007), and in a mouse mod

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Dimova, Ivanka, and Ivo Kremensky. "LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient." Case Reports in Genetics 2018 (July 25, 2018): 1–3. http://dx.doi.org/10.1155/2018/3028145.

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Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-α2 defects as a result of LAMA2 gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. One of such drugs is Tarix, which was FDA approved and announce

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Hagan, K. W., M. J. Ruiz-Echevarria, Y. Quan, and S. W. Peltz. "Characterization of cis-acting sequences and decay intermediates involved in nonsense-mediated mRNA turnover." Molecular and Cellular Biology 15, no. 2 (1995): 809–23. http://dx.doi.org/10.1128/mcb.15.2.809.

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Several lines of evidence indicate that the processes of mRNA turnover and translation are intimately linked and that understanding this relationship is critical to elucidating the mechanism of mRNA decay. One clear example of this relationship is the observation that nonsense mutations can accelerate the decay of mRNAs in a process that we term nonsense-mediated mRNA decay. The experiments described here demonstrate that in the yeast Saccharomyces cerevisiae premature translational termination within the initial two-thirds of the PGK1 coding region accelerates decay of that transcript regardl

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Kramer, J. M., and J. J. Johnson. "Analysis of mutations in the sqt-1 and rol-6 collagen genes of Caenorhabditis elegans." Genetics 135, no. 4 (1993): 1035–45. http://dx.doi.org/10.1093/genetics/135.4.1035.

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Abstract Different mutations in the sqt-1 and rol-6 collagen genes of Caenorhabditis elegans can cause diverse changes in body morphology and display different genetic attributes. We have determined the nucleotide alterations in 15 mutant alleles of these genes. Three mutations in sqt-1 and one in rol-6 that cause dominant right-handed helical twisting (RRol) of animals are arginine to cysteine replacements. These mutations are all within a short conserved sequence, on the amino terminal side of the Gly-X-Y repeats, that is found in all C. elegans cuticle collagens. A recessive RRol mutation o

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Morimoto, T., S. Uchida, H. Sakamoto, et al. "Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria." Journal of the American Society of Nephrology 9, no. 5 (1998): 811–18. http://dx.doi.org/10.1681/asn.v95811.

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Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric nephrolithiasis, i.e., Dent's disease, X-linked recessive nephrolithiasis, and X-linked recessive hypophosphatemic rickets. Recently, a number of Japanese children with low molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients with Dent's disease in British families have also been reported to have mutations in the CLCN5 gene. The present study examines five unrelated Japanese families with LMWP, two of which lacked any signs other than LMWP, and three of which had several s

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Le, C., AN Prasad, D. Debicki, A. Andrade, AC Rupar, and C. Prasad. "P.134 Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease: case series and review." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S51. http://dx.doi.org/10.1017/cjn.2018.236.

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Background: We report three brothers born to consanguineous parents of Syrian descent with a novel homozygous c.324G>A (p.W108*) mutation in PTRH2 that encodes mitochondrial peptidyl-tRNA hydrolase 2. Mutations in PTRH2 have recently been identified in the autosomal recessive condition, Infantile Onset Multisystem Neurologic, Endocrine and Pancreatic Disease (IMNEPD). To our knowledge, this is the first case of IMNEPD described in a Canadian centre. Methods: Clinical phenotyping enabled a targeted approach in which all exons of PTRH2 were sequenced. We identified a novel mutation and compar

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Merritt, Jonathan K., Bridget E. Collins, Kirsty R. Erickson, Hongwei Dong, and Jeffrey L. Neul. "Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome." Human Molecular Genetics 29, no. 15 (2020): 2461–70. http://dx.doi.org/10.1093/hmg/ddaa102.

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Abstract Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been suggested as a possible therapeutic approach. To assess the viability of this strategy, we created and characterized a mouse model with the common p.R294X mutation introduced into the endogenous Mecp2 locus (Mecp2R294X). Mecp2R294X mice exhibit phenotypic abnormalities similar to those seen in complete null mouse models; however, these occu

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Mei, Shuping, Jingwei Lin, Zhen Liu, and Cheng Li. "A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family." Disease Markers 2022 (August 26, 2022): 1–6. http://dx.doi.org/10.1155/2022/5838104.

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Congenital cataract is the most important global cause of visual impairment in children. Autosomal dominant and autosomal recessive inheritance account for the majority of the hereditary nonsyndromic congenital cataract. The function of FYCO1 gene is to guide the transport of the microtubule-directed vesicles. Mutations in the FYCO1 gene may cause cataracts. We reported a novel nonsense mutation in FYCO1 ( c . 1411 C > T , P. R471 ∗ ), which could cause nonsyndrome autosomal recessive congenital cataract. We underwent an ophthalmology examination of all participants and collected blood samp

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PIÉ, Juan, Núria CASALS, Cesar H. CASALE, et al. "A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency." Biochemical Journal 323, no. 2 (1997): 329–35. http://dx.doi.org/10.1042/bj3230329.

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A novel nonsense mutation associated with the skipping of constitutive exon 2 of the 3-hydroxy-3-methylglutaryl-CoA lyase gene was found in two patients, from Portugal and Morocco, with 3-hydroxy-3-methylglutaric acidemia. By reverse transcriptase PCR and single-strand conformational polymorphism a G–T transversion was located, at nucleotide 109, of the 3-hydroxy-3-methylglutaryl-CoA lyase cDNA, within exon 2. Two mRNAs were produced as a result of this nonsense mutation: one of the expected size that contains the premature stop codon UAA, and the other with a deletion of 84 bp corresponding t

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Cefalù, Angelo B., Davide Noto, Maria Luisa Arpi, et al. "Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia." Journal of Clinical Endocrinology & Metabolism 94, no. 11 (2009): 4584–90. http://dx.doi.org/10.1210/jc.2009-0594.

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Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X). Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded. Results: The resequencing of LMF1 gene led to the discovery of a

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Wang, X., D. T. Fleischer, W. T. Whitehead, et al. "Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families." Journal of Immunology 154, no. 10 (1995): 5464–71. http://dx.doi.org/10.4049/jimmunol.154.10.5464.

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Abstract Hereditary C5 deficiency has been reported in several families of different ethnic backgrounds and from different geographic regions, but the molecular genetic defect causing C5 deficiency has not been delineated in any of them. To examine the molecular basis of C5 deficiency in the African-American population, the exons and intron/exon boundaries of the C5 structural genes from three C5-deficient (C5D) African-American families were sequenced, revealing two nonsense mutations. The nonsense mutations are located in exon 1 (C84AG to TAG) in two of the C5D families (Rhode Island and Nor

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Buzina, Alla, and Marc J. Shulman. "Infrequent Translation of a Nonsense Codon Is Sufficient to Decrease mRNA Level." Molecular Biology of the Cell 10, no. 3 (1999): 515–24. http://dx.doi.org/10.1091/mbc.10.3.515.

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In many organisms nonsense mutations decrease the level of mRNA. In the case of mammalian cells, it is still controversial whether translation is required for this nonsense-mediated RNA decrease (NMD). Although previous analyzes have shown that conditions that impede translation termination at nonsense codons also prevent NMD, the residual level of termination was unknown in these experiments. Moreover, the conditions used to impede termination might also have interfered with NMD in other ways. Because of these uncertainties, we have tested the effects of limiting translation of a nonsense cod

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McHugh, Daniel R., Calvin U. Cotton, and Craig A. Hodges. "Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations." International Journal of Molecular Sciences 22, no. 1 (2020): 344. http://dx.doi.org/10.3390/ijms22010344.

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Many heritable genetic disorders arise from nonsense mutations, which generate premature termination codons (PTCs) in transcribed mRNA. PTCs ablate protein synthesis by prematurely terminating the translation of mutant mRNA, as well as reducing mutant mRNA quantity through targeted degradation by nonsense-mediated decay (NMD) mechanisms. Therapeutic strategies for nonsense mutations include facilitating ribosomal readthrough of the PTC and/or inhibiting NMD to restore protein function. However, the efficacy of combining readthrough agents and NMD inhibitors has not been thoroughly explored. In

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Cohen, Sarit, Lior Kramarski, Shahar Levi, Noa Deshe, Oshrit Ben David, and Eyal Arbely. "Nonsense mutation-dependent reinitiation of translation in mammalian cells." Nucleic Acids Research 47, no. 12 (2019): 6330–38. http://dx.doi.org/10.1093/nar/gkz319.

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AbstractIn-frame stop codons mark the termination of translation. However, post-termination ribosomes can reinitiate translation at downstream AUG codons. In mammals, reinitiation is most efficient when the termination codon is positioned close to the 5′-proximal initiation site and around 78 bases upstream of the reinitiation site. The phenomenon was studied mainly in the context of open reading frames (ORFs) found within the 5′-untranslated region, or polycicstronic viral mRNA. We hypothesized that reinitiation of translation following nonsense mutations within the main ORF of p53 can promot

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