Codon nonsense. Medical search

An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.

A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).

Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.

A codon that directs initiation of protein translation (TRANSLATION, GENETIC) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).

Biochemical identification of mutational changes in a nucleotide sequence.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

The meaning ascribed to the BASE SEQUENCE with respect to how it is translated into AMINO ACID SEQUENCE. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons (CODON).

A process of GENETIC TRANSLATION whereby the terminal amino acid is added to a lengthening polypeptide. This termination process is signaled from the MESSENGER RNA, by one of three termination codons (CODON, TERMINATOR) that immediately follows the last amino acid-specifying CODON.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The small RNA molecules, 73-80 nucleotides long, that function during translation (TRANSLATION, GENETIC) to align AMINO ACIDS at the RIBOSOMES in a sequence determined by the mRNA (RNA, MESSENGER). There are about 30 different transfer RNAs. Each recognizes a specific CODON set on the mRNA through its own ANTICODON and as aminoacyl tRNAs (RNA, TRANSFER, AMINO ACYL), each carries a specific amino acid to the ribosome to add to the elongating peptide chains.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

An individual in which both alleles at a given locus are identical.

Proteins that are involved in the peptide chain termination reaction (PEPTIDE CHAIN TERMINATION, TRANSLATIONAL) on RIBOSOMES. They include codon-specific class-I release factors, which recognize stop signals (TERMINATOR CODON) in the MESSENGER RNA; and codon-nonspecific class-II release factors.

Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

Genes that influence the PHENOTYPE only in the homozygous state.

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

The sequential set of three nucleotides in TRANSFER RNA that interacts with its complement in MESSENGER RNA, the CODON, during translation in the ribosome.

An individual having different alleles at one or more loci regarding a specific character.

The magnitude of INBREEDING in humans.

The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

Deletion of sequences of nucleic acids from the genetic material of an individual.

An enzyme that catalyzes reversibly the conversion of D-glyceraldehyde 3-phosphate to dihydroxyacetone phosphate. A deficiency in humans causes nonspherocytic hemolytic disease (ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC). EC 5.3.1.1.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

Multicomponent ribonucleoprotein structures found in the CYTOPLASM of all cells, and in MITOCHONDRIA, and PLASTIDS. They function in PROTEIN BIOSYNTHESIS via GENETIC TRANSLATION.

The functional hereditary units of BACTERIA.

Any method used for determining the location of and relative distances between genes on a chromosome.

The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

A process of GENETIC TRANSLATION whereby the formation of a peptide chain is started. It includes assembly of the RIBOSOME components, the MESSENGER RNA coding for the polypeptide to be made, INITIATOR TRNA, and PEPTIDE INITIATION FACTORS; and placement of the first amino acid in the peptide chain. The details and components of this process are unique for prokaryotic protein biosynthesis and eukaryotic protein biosynthesis.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

An oligosaccharide antibiotic produced by various STREPTOMYCES.

The three possible sequences of CODONS by which GENETIC TRANSLATION may occur from one nucleotide sequence. A segment of mRNA 5'AUCCGA3' could be translated as 5'AUC.. or 5'UCC.. or 5'CCG.., depending on the location of the START CODON.

Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.

The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

A transfer RNA which is specific for carrying serine to sites on the ribosomes in preparation for protein synthesis.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

A transfer RNA which is specific for carrying tryptophan to sites on the ribosomes in preparation for protein synthesis.

Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.

A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.

Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.

DNA sequences recognized as signals to end GENETIC TRANSCRIPTION.

A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.

A directed change in translational READING FRAMES that allows the production of a single protein from two or more OVERLAPPING GENES. The process is programmed by the nucleotide sequence of the MRNA and is sometimes also affected by the secondary or tertiary mRNA structure. It has been described mainly in VIRUSES (especially RETROVIRUSES); RETROTRANSPOSONS; and bacterial insertion elements but also in some cellular genes.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

Intermediates in protein biosynthesis. The compounds are formed from amino acids, ATP and transfer RNA, a reaction catalyzed by aminoacyl tRNA synthetase. They are key compounds in the genetic translation process.

That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

A characteristic symptom complex.

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

A transfer RNA which is specific for carrying glutamine to sites on the ribosomes in preparation for protein synthesis.

The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.

A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.

Proteins found in any species of bacterium.

Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

The functional hereditary units of FUNGI.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

Glycosylated compounds in which there is an amino substituent on the glycoside. Some of them are clinically important ANTIBIOTICS.

A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

A family of proteins that promote unwinding of RNA during splicing and translation.

A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.

Genotypic differences observed among individuals in a population.

The relationships of groups of organisms as reflected by their genetic makeup.

Ribonucleic acid in fungi having regulatory and catalytic roles as well as involvement in protein synthesis.

A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.

A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.

The functional hereditary units of VIRUSES.

Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.

In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.

Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.

Established cell cultures that have the potential to propagate indefinitely.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

Ribonucleic acid in bacteria having regulatory and catalytic roles as well as involvement in protein synthesis.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.

A complex of closely related aminoglycosides obtained from MICROMONOSPORA purpurea and related species. They are broad-spectrum antibiotics, but may cause ear and kidney damage. They act to inhibit PROTEIN BIOSYNTHESIS.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.

Congenital absence of or defects in structures of the eye; may also be hereditary.

A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.

Agents which are destructive to amebae, especially the parasitic species causing AMEBIASIS in man and animal.

Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.

Post-transcriptional biological modification of messenger, transfer, or ribosomal RNAs or their precursors. It includes cleavage, methylation, thiolation, isopentenylation, pseudouridine formation, conformational changes, and association with ribosomal protein.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Proteins found in any species of virus.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

Proteins found in any species of fungus.

Detection of RNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.

A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.

Identification of genetic carriers for a given trait.

Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.

Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.

Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.

A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.

The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.

Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

A process of GENETIC TRANSLATION, when an amino acid is transferred from its cognate TRANSFER RNA to the lengthening chain of PEPTIDES.

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Transport proteins that carry specific substances in the blood or across cell membranes.

A subclass of enzymes that aminoacylate AMINO ACID-SPECIFIC TRANSFER RNA with their corresponding AMINO ACIDS.

A transfer RNA which is specific for carrying glutamic acid to sites on the ribosomes in preparation for protein synthesis.

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.

Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

N(6)-[delta(3)-isopentenyl]adenosine. Isopentenyl derivative of adenosine which is a member of the cytokinin family of plant growth regulators.

A transfer RNA which is specific for carrying arginine to sites on the ribosomes in preparation for protein synthesis.

Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.

RNA transcripts of the DNA that are in some unfinished stage of post-transcriptional processing (RNA PROCESSING, POST-TRANSCRIPTIONAL) required for function. RNA precursors may undergo several steps of RNA SPLICING during which the phosphodiester bonds at exon-intron boundaries are cleaved and the introns are excised. Consequently a new bond is formed between the ends of the exons. Resulting mature RNAs can then be used; for example, mature mRNA (RNA, MESSENGER) is used as a template for protein production.

An mRNA metabolic process that distinguishes a normal STOP CODON from a premature stop codon (NONSENSE CODON) and facilitates rapid degradation of aberrant mRNAs containing premature stop codons.

A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).

Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)

Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

A group of transfer RNAs which are specific for carrying each one of the 20 amino acids to the ribosome in preparation for protein synthesis.

Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.

A transfer RNA which is specific for carrying tyrosine to sites on the ribosomes in preparation for protein synthesis.

An essential amino acid that is physiologically active in the L-form.

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Actual loss of portion of a chromosome.

The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.

The sequential location of genes on a chromosome.

Infrequent translation of a nonsense codon is sufficient to decrease mRNA level. (1/1486)

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 codon in a different way, using two mutations in the immunoglobulin mu heavy chain gene. For this purpose we exploited an exceptional nonsense mutation at codon 3, which efficiently terminates translation but nonetheless maintains a high level of mu mRNA. We have shown 1) that translation of Ter462 in the double mutant occurs at only approximately 4% the normal frequency, and 2) that Ter462 in cis with Ter3 can induce NMD. That is, translation of Ter462 at this low (4%) frequency is sufficient to induce NMD. (+info)

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. (2/1486)

The inherited metabolic disease propionic acidemia (PA) can result from mutations in either of the genes PCCA or PCCB, which encode the alpha and beta subunits, respectively, of the mitochondrial enzyme propionyl CoA-carboxylase. In this work we have analyzed the molecular basis of PCCA gene defects, studying mRNA levels and identifying putative disease causing mutations. A total of 10 different mutations, none predominant, are present in a sample of 24 mutant alleles studied. Five novel mutations are reported here for the first time. A neutral polymorphism and a variant allele present in the general population were also detected. To examine the effect of a point mutation (M348K) involving a highly conserved residue, we have carried out in vitro expression of normal and mutant PCCA cDNA and analyzed the mitochondrial import and stability of the resulting proteins. Both wild-type and mutant proteins were imported into mitochondria and processed into the mature form with similar efficiency, but the mature mutant M348K protein decayed more rapidly than did the wild-type, indicating a reduced stability, which is probably the disease-causing mechanism. (+info)

Facile characterization of translation initiation via nonsense codon suppression. (3/1486)

A new strategy for studying the mechanism of translation initiation in eukaryotes has been developed. The strategy involves the use of an in vitro translation system to incorporate a non-natural fluorescent amino acid into a protein from a suppressor tRNAPheCUA misacylated with that amino acid. It is thereby possible to monitor translation initiation efficiency at an AUG codon in different contexts; this is illustrated for three constructs encoding Escherichia coli dihydrofolate reductase mRNA with different translation initiation regions. Fluorescence measurements after in vitro translation of the mRNAs in rabbit reticulocyte lysate reflected differences in the position and efficiency of translation initiation and, therefore, can be used for characterization of the translation initiation process. (+info)

A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. (4/1486)

We report here a patient (Ops1) with clinical photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas. These clinical features are reminiscent of xeroderma pigmentosum. As cells from Ops1 showed normal levels in DNA repair synthesis in vivo (unscheduled DNA synthesis and recovery of RNA synthesis after ultraviolet irradiation), we performed a postreplication repair assay and recovery of replicative DNA synthesis after ultraviolet irradiation to investigate if Ops1 cells belonged to a xeroderma pigmentosum variant pattern. Ops1 cells were normal, but there was an incomplete pattern repair in (6-4) photoproducts in contrast to a normal pattern repair in cis-syn cyclobutane pyrimidine dimers by repair kinetics using the enzyme-linked immunosorbent assay. Moreover, Ops1 cells were defective in a damage-specific DNA binding protein and carried a non-sense mutation in the DDB2 gene. These results suggest that (i) the DDB2 gene is somewhat related to skin carcinogenesis, photoaging skin, and the removal of (6-4) photoproducts; (ii) although it is believed that cyclobutane pyrimidine dimers are the principal mutagenic lesion and (6-4) photoproducts are less likely to contribute to ultraviolet-induced mutations in mammals, Ops1 is one of the ultraviolet-induced mutagenic models induced by (6-4) photoproducts. (+info)

Nonsense-mediated mRNA decay in health and disease. (5/1486)

All eukaryotes possess the ability to detect and degrade transcripts harboring premature signals for the termination of translation. Despite the ubiquitous nature of nonsense-mediated mRNA decay (NMD) and its demonstrated role in the modulation of phenotypes resulting from selected nonsense alleles, very little is known regarding its basic mechanism or the selective pressure for complete evolutionary conservation of this function. This review will present the current models of NMD that have been generated during the study of model organisms and mammalian cells. The physiological burden of nonsense transcripts and the emerging view that NMD plays a broad and critical role in the regulation of gene expression will also be discussed. Such issues are relevant to the proposal that pharmacological manipulation of NMD will find therapeutic application. (+info)

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. (6/1486)

Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and progressive optic atrophy. mtDNA deletions have been described, and a gene (WFS1) recently has been identified, on chromosome 4p16, encoding a predicted 890 amino acid transmembrane protein. Direct DNA sequencing was done to screen the entire coding region of the WFS1 gene in 30 patients from 19 British kindreds with Wolfram syndrome. DNA was also screened for structural rearrangements (deletions and duplications) and point mutations in mtDNA. No pathogenic mtDNA mutations were found in our cohort. We identified 24 mutations in the WFS1 gene: 8 nonsense mutations, 8 missense mutations, 3 in-frame deletions, 1 in-frame insertion, and 4 frameshift mutations. Of these, 23 were novel mutations, and most occurred in exon 8. The majority of patients were compound heterozygotes for two mutations, and there was no common founder mutation. The data were also analyzed for genotype-phenotype relationships. Although some interesting cases were noted, consideration of the small sample size and frequency of each mutation indicated no clear-cut correlations between any of the observed mutations and disease severity. There were no obvious mutation hot spots or clusters. Hence, molecular screening for Wolfram syndrome in affected families and for Wolfram syndrome-carrier status in subjects with psychiatric disorders or diabetes mellitus will require complete analysis of exon 8 and upstream exons. (+info)

Mutations in VPS16 and MRT1 stabilize mRNAs by activating an inhibitor of the decapping enzyme. (7/1486)

Decapping is a rate-limiting step in the decay of many yeast mRNAs; the activity of the decapping enzyme therefore plays a significant role in determining RNA stability. Using an in vitro decapping assay, we have identified a factor, Vps16p, that regulates the activity of the yeast decapping enzyme, Dcp1p. Mutations in the VPS16 gene result in a reduction of decapping activity in vitro and in the stabilization of both wild-type and nonsense-codon-containing mRNAs in vivo. The mrt1-3 allele, previously shown to affect the turnover of wild-type mRNAs, results in a similar in vitro phenotype. Extracts from both vps16 and mrt1 mutant strains inhibit the activity of purified Flag-Dcp1p. We have identified a 70-kDa protein which copurifies with Flag-Dcp1p as the abundant Hsp70 family member Ssa1p/2p. Intriguingly, the interaction with Ssa1p/2p is enhanced in strains with mutations in vps16 or mrt1. We propose that Hsp70s may be involved in the regulation of mRNA decapping. (+info)

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA. (8/1486)

Yeast cells containing a temperature-sensitive mutation in the PRT1 gene were found to selectively stabilize mRNAs harboring early nonsense codons. The similarities between the mRNA decay phenotypes of prt1-1 cells and those lacking the nonsense-mediated mRNA decay (NMD) factor Upf1p led us to determine whether both types of mutations cause the accumulation of the same mRNAs. Differential display analysis and mRNA half-life measurements demonstrated that the HHF2 mRNA increased in abundance in prt1-1 and upf1Delta cells, but did not manifest a change in decay rate. In both mutant strains this increase was attributable to stabilization of the SPT10 transcript, an mRNA encoding a transcriptional regulator of HHF2. Analyses of chimeric mRNAs used to identify the cis-acting basis for NMD of the SPT10 mRNA indicated that ribosomes scan beyond its initiator AUG and initiate at the next downstream AUG, resulting in premature translation termination. By searching a yeast database for transcripts with sequence features similar to those of the SPT10 mRNA, other transcripts that decay by the NMD pathway were identified. Our results demonstrate that mRNAs undergoing leaky scanning are a new class of endogenous NMD substrate, and suggest the existence of a novel cellular regulatory circuit. (+info)

Stretton AO, Kaplan S, Brenner S (1966). "Nonsense codons". Cold Spring Harb Symp Quant Biol. 31: 173-179. doi:10.1101/sqb. ... The Garen lab also showed that certain triplet codons (5'-UAG, 5'-UAA, and 5'-UGA) failed to bind amino acids. Thus, the Garen ... lab and Brenner labs are both credited with discovery of the stop codons of the genetic code. Garen is currently a professor at ...

https://en.wikipedia.org/wiki/Alan_Garen

Nonsense mutation Start codon Stop codon Jameson JL. Principles of Molecular Medicine. Springer. p. 731. Belgrader P, Maquat LE ... Missense mRNA is a messenger RNA bearing one or more mutated codons that yield polypeptides with an amino acid sequence ... The point mutation is nonsynonymous because it alters the RNA codon in the mRNA transcript such that translation results in ... If the resulting mRNA codon is one that changes the amino acid, a missense mRNA would be detected. A hypergeometric ...

https://en.wikipedia.org/wiki/Missense_mRNA

Karijolich J, Yu YT (June 2011). "Converting nonsense codons into sense codons by targeted pseudouridylation". Nature. 474 ( ... but it cannot destroy existing start and stop codons. A cryptic start codon is created when the codon ACG is edited to be AUG. ... Pseudouridylation of nonsense codons suppresses translation termination both in vitro and in vivo, suggesting that RNA ... a pre-mature stop codon mutation in a dystrophin sequence to activate A-to-I editing of the stop codon to a read through codon ...

https://en.wikipedia.org/wiki/RNA_editing

"SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan". RNA. 14 (12): 2609-17. doi: ... "SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan". RNA. 14 (12): 2609-17. doi: ... "SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan". RNA. 14 (12): 2609-17. doi: ... "SMG6 SMG6, nonsense mediated mRNA decay factor [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-10- ...

https://en.wikipedia.org/wiki/SMG6

... by promoting insertion of certain near-cognate tRNA at the site of nonsense codons with no apparent effects on downstream ... "Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression". Proc. Natl. Acad. Sci. USA. 106 (9 ... Ataluren is used in the European Union to treat people with Duchenne muscular dystrophy who have a nonsense mutation in the ... Ataluren is thought to make ribosomes less sensitive to premature stop codons (an effect referred to as "read-through") ...

https://en.wikipedia.org/wiki/Ataluren

Nonsense mutations have been documented as well, occurring exclusively in the codon for proline. The mRNA sequence contains and ...

https://en.wikipedia.org/wiki/C2orf81

A nonsense mutation is a point mutation that results in a premature stop codon. Five affected families contained the nonsense ... This mutation causes non-sense mediated decay of the mRNA. Due to the fact that not all 10 affected families were found to have ... This duplication that caused the frameshift resulted in a premature stop codon in the ROGDI gene after the 19th amino acid. A ... All ROGDI mutations which include frameshift, nonsense, and splice site mutations cause premature mRNA degradation or protein ...

https://en.wikipedia.org/wiki/Kohlschütter-Tönz_syndrome

Thus, nonsense codons lie more than 50-54 nucleotides upstream from the last exon boundary whereas natural stop codons are ... "Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay". The Journal ... It has been observed that the ability of a nonsense codon to cause mRNA degradation depends on its relative location to the ... A premature stop codon must be recognized as different from a normal stop codon so that only the former triggers a NMD response ...

https://en.wikipedia.org/wiki/MRNA_surveillance

In NMD, the mRNA transcript contains a premature termination codon (PTC) due to a nonsense mutation. If this codon occurs prior ... RNPS1 can function as a coactivator of splicing, but along with Y14, it also takes part in the process of nonsense-mediated ... Recognition of a premature termination codon occurs during translation in the cytoplasm. The image shown below implies that ... More specifically, they are found in the nonsense mediated decay pathway (NMD), wherein mRNA transcripts with premature stop ...

https://en.wikipedia.org/wiki/Exon_junction_complex

... giving most amino acids more than one possible codon. There are also three 'stop' or 'nonsense' codons signifying the end of ... The genetic code consists of three-letter 'words' called codons formed from a sequence of three nucleotides (e.g. ACT, CAG, TTT ... Since there are 4 bases in 3-letter combinations, there are 64 possible codons (43 combinations). These encode the twenty ... In transcription, the codons of a gene are copied into messenger RNA by RNA polymerase. This RNA copy is then decoded by a ...

https://en.wikipedia.org/wiki/DNA

"A murine Zic3 transcript with a premature termination codon evades nonsense-mediated decay during axis formation". Dis. Models ...

https://en.wikipedia.org/wiki/ZIC3

"Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): ... "Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense- ... Regulator of nonsense transcripts 3A is a protein that in humans is encoded by the UPF3A gene. This gene encodes a protein that ... Kim VN, Kataoka N, Dreyfuss G (2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon ...

https://en.wikipedia.org/wiki/UPF3A

Nonsense mediated decay recognizes premature stop codons and promotes decapping as well as decay by the exosome. Certain ...

https://en.wikipedia.org/wiki/Messenger_RNA_decapping

"Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): ... "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): ... Regulator of nonsense transcripts 2 is a protein that in humans is encoded by the UPF2 gene. This gene encodes a protein that ... Schell T, Köcher T, Wilm M, Seraphin B, Kulozik AE, Hentze MW (Aug 2003). "Complexes between the nonsense-mediated mRNA decay ...

https://en.wikipedia.org/wiki/UPF2

Wong F, Goldberg MF, Hao Y (1993). "Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male ...

https://en.wikipedia.org/wiki/Norrin

The Determination and Use of Mutagen Specificity in Bacteria Containing Nonsense Codons (PhD thesis). Pennsylvania State ... Her PhD on mutagenesis in nonsense mutations in bacteria was awarded by Pennsylvania State University in 1972. Mary Osborn ... Bockrath, R. C.; Osborn, M; Person, S (1968). "Nonsense suppression in a multiauxotrophic derivative of Escherichia coli 15T-: ...

https://en.wikipedia.org/wiki/Mary_Osborn

The premature insertion of a stop codon, a nonsense mutation, can alter the primary structure of a protein. In this case, a ... Codons decide when to cut out introns based on the codon it is reading in mRNA. The mutated codons have a higher risk of making ... Codon degeneracy Neutral mutation Genealogical DNA test Missense mutation Nonsense mutation Point mutation Synonymous ... For example, there is a specific tRNA molecule for the codon UCU and another specific for the codon UCC, both of which code for ...

https://en.wikipedia.org/wiki/Silent_mutation

Notably, humans possess a greater number of early stop codons in TLR4 than great apes; in a study of 158 humans worldwide, 0.6 ... had a nonsense mutation. This suggests that there are weaker evolutionary pressures on the human TLR4 than on our primate ...

https://en.wikipedia.org/wiki/TLR4

... producing premature termination codons. As consequent products are distant from normal, mutant mRNA arises and nonsense ... MTRR):c.1049A>G - Lysine to arginine substitution at codon 350. (MTRR):c.1349C>G - Proline to arginine substitution at codon ... MTRR):c.1573C>T - Arginine substitution with a premature termination codon at codon 525. (MTRR):c.1622_1623dupTA - Results in ... MTRR):c.1459G>A - Involves glycine to arginine substitution at codon 487. Conserved in MTRR and found to occur within the FAD ...

https://en.wikipedia.org/wiki/MTRR_(gene)

In these stop codons both a U→Ψ modification and a U→C mutation both promote nonsense suppression. In the SARS-CoV2 vaccine ... The stabilized conformation of the ASL helps maintain correct anticodon-codon pairings during translation. This stability may ... Ψ residues in mRNA can affect the coding specificity of stop codons UAA, UGA, and UAG. ... increase translational accuracy by decreasing the rate of peptide bond formation and allowing for more time for incorrect codon ...

https://en.wikipedia.org/wiki/Pseudouridine

... being nonsense/frameshift mutations leading to premature stop codons. 33% of mutations occur between amino acids 1061-1309. In ...

https://en.wikipedia.org/wiki/Adenomatous_polyposis_coli

The last one replaces arginine with the Stop codon, prematurely stopping at position 247 the formation of the protein (nonsense ... A stop codon versus gene deletions". Vision Res. 50 (23): 2396-2402. doi:10.1016/j.visres.2010.09.015. PMC 2975855. PMID ...

https://en.wikipedia.org/wiki/Blue_cone_monochromacy

... s can alternatively splice pre-mRNA transcripts to include nonsense-mediated decay (NMD) codons in the mRNA. The most ... For example, SC35 SR protein can alternatively splice a SC35 pre-mRNA to include a NMD codon in the mRNA. The location of SR ... The splice variant with the NMD codon is chosen more often during splicing and the cell is more sensitive to NMD further down ... SR proteins can alternatively splice NMD codons into its own mRNA transcript to auto-regulate the concentration of SR proteins ...

https://en.wikipedia.org/wiki/SR_protein

Nonsense mutations include stop-gain and start-loss. Stop-gain is a mutation that results in a premature termination codon (a ... This means that a codon coding for the amino acid glycine may be changed to a stop codon, causing the proteins that should have ... This is possible because 64 codons specify only 20 amino acids. Different codons can lead to differential protein expression ... Start-gain creates an AUG start codon upstream of the original start site. If the new AUG is near the original start site, in- ...

https://en.wikipedia.org/wiki/Point_mutation

... nonsense codons, and splicing defects. Mutations spread across the FAH gene observes clusters of amino acid residues such as ... Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (October 1994). "Novel splice, missense, and nonsense mutations ... Rootwelt H, Berger R, Gray G, Kelly DA, Coşkun T, Kvittingen EA (October 1994). "Novel splice, missense, and nonsense mutations ... maternal alleles for codon 234 exhibit this mutation which changes a tryptophan to a glycine. This possibly suggests HT1 ...

https://en.wikipedia.org/wiki/Fumarylacetoacetate_hydrolase

Partial loss of function results in nonsense suppression, in which stop codons are ignored and proteins are abnormally ... In isogenic strains where the non-sense mutation is in the middle of either the gene ADE 2 or ADE 1 (enzymes involved in the ... The [psi+] strain appears white even when subjected to the same non-sense mutations. Thus, it is inferred that the eRF3 of the ... This variation would lie beyond stop codons, which show a high rate of in-frame loss in yeast. Mathematical models suggest that ...

https://en.wikipedia.org/wiki/Sup35p

A nonsense mutation in the leptin gene that results in a stop codon and lack of leptin production was first observed in mice. ... In the mouse gene, arginine-105 is encoded by CGA and only requires one nucleotide change to create the stop codon TGA. The ... "Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity". J. Clin. Invest. 95 (6): ... amino acid in humans is encoded by the sequence CGG and would require two nucleotides to be changed to produce a stop codon, ...

https://en.wikipedia.org/wiki/Leptin

There also exist nonsense mutations, where base alterations in the coding region code for a premature stop codon, producing a ... similar to the low GC-content of the base composition translational stop codons like TAG, TAA, and TGA. GC-rich areas are also ... which describes the degeneracy of the third base within an mRNA codon. While it is well known that the genome of one individual ... codons). The tRNAs transfer their associated amino acids to the growing polypeptide chain, eventually forming the protein ...

https://en.wikipedia.org/wiki/Coding_region

"Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): ... "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon". Cell. 103 (7): ... Regulator of nonsense transcripts 1 is a protein that in humans is encoded by the UPF1 gene. This gene encodes a protein that ... Mendell JT, ap Rhys CM, Dietz HC (2002). "Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts ...

https://en.wikipedia.org/wiki/UPF1

Kim VN, Kataoka N, Dreyfuss G (Sep 2001). "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon ... this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after ... mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). ...

https://en.wikipedia.org/wiki/RNPS1

The most common mutation in RPS6KA3 is an early stop codon that fails to produce a functional protein, indicating that disease ... nonsense mutations, insertions and deletions. Individuals with CLS rarely have affected parents, suggesting that most incidents ...

https://en.wikipedia.org/wiki/Coffin–Lowry_syndrome

... causes ribosomes to have a higher rate of read-through of stop codons, an effect that results in suppression of nonsense ... "Extrachromosomal psi+ determinant suppresses nonsense mutations in yeast". J. Bacteriol. 139 (3): 1068-71. PMC 218059 . PMID ... by giving cells the ability to switch into a PSI+ state and express dormant genetic features normally terminated by stop codon ...

https://en.wikipedia.org/wiki/Epigenetic

The unnatural amino acid is coded by a nonsense (TAG, TGA, TAA) triplet, a quadruplet codon, or in some cases a redundant rare ... codon. The organism that expresses the mutant synthetase can then be genetically programmed to incorporate the unnatural amino ...

https://en.wikipedia.org/wiki/Aminoacyl_tRNA_synthetase

... which checks for the presence of premature stop codons (nonsense codons) in the message. These can arise via incomplete ... Nonsense mediated decayEdit. Main article: Nonsense mediated decay. Eukaryotic messages are subject to surveillance by nonsense ... Coding regions begin with the start codon and end with a stop codon. In general, the start codon is an AUG triplet and the stop ... Each codon encodes for a specific amino acid, except the stop codons, which terminate protein synthesis. This process of ...

https://en.m.wikipedia.org/wiki/MRNA

Using synthetic DNA, instead of there being 43 codons, if there are n new bases there could be as many as n3 codons. Research ... Now we know that almost all these answers are highly likely to be nonsense, having sprung from man's ignorance and his enormous ... These new codons can code for new amino acids. These synthetic molecules can be used not only in medicine, but in creation of ... It, however, requires a five base binding between the mRNA and tRNA with a flip of the anti-codon creating a triplet coding, ...

https://en.wikipedia.org/wiki/Francis_Crick

... non-sense, or mutations of other kinds and are likely to cause deletions in the gene product.[25][25][26] Apart from helicase ... which lead to a premature stop codon.[79] ...

https://en.wikipedia.org/wiki/Accelerated_aging_disease

Fashionable Nonsense: Postmodern Intellectuals' Abuse of Science, Picador. 1999. *The Sokal Hoax: The Sham That Shook the ... Of course, 'unlike with unlike' increases the number of possible codons, if this scheme were a genetic code.) ...

https://en.wikipedia.org/wiki/Scientific_method

Sample typical onset ages: between codon 168 and 1580 (excluding 1309) = 30 years, 5' of codon 168 and 3' of codon 1580 = 52 ... Most APC mutations are nonsense or frameshift mutations that cause premature truncation of the APC protein.. The likelihood of ... to codon 1444, 49% of individuals with mutations 3' to codon 1444, and 61% of individuals with mutations in codons 1445-1580; ... Duodenal adenomas: Fourfold increased risk with mutations between codons 976 and 1067. Desmoid tumors: mutations 3' to codon ...

https://en.m.wikipedia.org/wiki/Familial_adenomatous_polyposis

An amber mutant of phage T4 contains a mutation that changes a codon for an amino acid in a protein to the nonsense stop codon ... see stop codon and nonsense mutation). If, upon infection, an amber mutant defective in a gene encoding a needed structural ... However, it was found that viable phage could sometimes be produced in the host with the weak nonsense suppressor if a second ... In addition to the reading frame, Crick also used suppressor mutations to determine codon size. It was found that while one and ...

https://en.wikipedia.org/wiki/Suppressor_mutation

Transcripts carrying the frameshift mutation may also be degraded through Nonsense-mediated decay during translation, thus not ... the number of nucleotides per codon. Frameshift mutations will alter all the amino acids encoded by the gene following the ... after the insertion and translation will most likely run to completion if the inserted nucleotides do not code for a stop codon ... and the subsequent frameshift mutation will cause the active translation of the gene to encounter a premature stop codon, ...

https://en.wikipedia.org/wiki/Insertion_

Nonsense or frameshift alterations resulting in the deletion of a C-terminal fragment of the NMHC IIA (17 to 40 residues) are ... It is composed of 41 exons with the first ATG of the open reading frame localized in exon 2 and the stop codon in exon 41. It ...

https://en.wikipedia.org/wiki/MYH9

"How nonsense mutations got their names". Microbial Genetics Course. San Diego State University. Archived from the original on ... Standard RNA codon table[edit]. Amino-acid biochemical properties Nonpolar Polar Basic Acidic ↓ Termination: stop codon * ... Standard DNA codon table[edit]. Amino-acid biochemical properties Nonpolar Polar Basic Acidic ↓ Termination: stop codon * ... Each stop codon has a specific name: UAG is amber, UGA is opal or umber, and UAA is ochre.[8] In DNA, these stop codons are TAG ...

https://en.wikipedia.org/wiki/DNA_codon_table

... a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense ... the effect of a point-nonsense mutation depends on the proximity of the point-nonsense mutation to the original stop codon, and ... Point-nonsense-mediated mRNA decay[edit]. Despite an expected tendency for premature termination codons to yield shortened ... The functional effect of a point-nonsense mutation depends on the location of the stop codon within the coding DNA. For example ...

https://en.wikipedia.org/wiki/Nonsense_mutation

Using synthetic DNA, instead of there being 43 codons, if there are n new bases there could be as many as n3 codons. Research ... Now we know that almost all these answers are highly likely to be nonsense, having sprung from man's ignorance and his enormous ... Using synthetic DNA, instead of there being 43 codons, if there are n new bases there could be as many as n3 codons. Research ... These new codons can code for new amino acids. These synthetic molecules can be used not only in medicine, but in creation of ...

https://en.wikipedia.org/wiki/Francis_Crick?oldid=752748384

Although many splicing errors are safeguarded by a cellular quality control mechanism termed nonsense-mediated mRNA decay (NMD ... Results in exposure of a premature stop codon, loss of an exon, or inclusion of an intron. ... A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay". Blood. 99 (5): 1811-6 ...

https://en.wikipedia.org/wiki/Splicing_

A nonsense mutation is a point mutation in a DNA sequence that leads to an early stop codon.[4] This appears as a nonsense ... codon in the transcribed mRNA. Most of the time, the protein that is translated from this mRNA does not work. ...

https://simple.wikipedia.org/wiki/Nonsense_mutation

... is caused by a nonsense mutation in codon 1027 of the COL4A5 gene on the X chromosome ( ... glycine to stop codon), which is similar to Alport's syndrome in humans. The disease is simply inherited, X-linked dominant, ...

https://en.wikipedia.org/wiki/Samoyed_hereditary_glomerulopathy

Nonsense suppressionEdit. The interference with mRNA proofreading has been exploited to treat genetic diseases that result from ... leading to a mis-reading of the termination codon, causing the ribosome to "skip" over the stop sequence and to continue with ... Aminoglycosides can cause the cell to overcome the stop codons, insert a random amino acid, and express a full-length protein.[ ... premature stop codons (leading to early termination of protein synthesis and truncated proteins). ...

https://en.m.wikipedia.org/wiki/Aminoglycoside

A nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the ... A synonymous substitution replaces a codon with another codon that codes for the same amino acid, so that the produced amino ... A nonsynonymous substitution replaces a codon with another codon that codes for a different amino acid, so that the produced ... Due to the triplet nature of gene expression by codons, the insertion or deletion can disrupt the reading frame, or the ...

https://en.m.wikipedia.org/wiki/Genetic_mutation

Mayroon ding tatlong tigil('stop') o walang sense('nonsense') na mga codon na naghuhudyat ng dulo ng rehiyong nagkokodigo. Ang ... Sa trankripsiyon, ang mga codon ng isang gene ay kinokopya sa mensaherong RNA ng RNA polymerase. Ang kopyang RNA na ito ay dini ... Ang kodigong henetiko ay binubuo ng talong-letrang mga 'salita' na tinatawag na codon na nabubuo mula sa isang sekwensiya ng ... Dahil sa may mga apat na base sa 3-letrang mga kombinasyon, 64 posibleng mga codon(43 mga kombinasyon). Ang mga ito ay ...

https://tl.wikipedia.org/wiki/DNA

This insertion leads to an early stop codon, which causes the Hex A deficiency.[11] ... There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and ...

https://en.m.wikipedia.org/wiki/HEXA

The most frequent mutation occurs in the 600th codon of BRAF (50% of cases). BRAF is normally involved in cell growth and this ... nonsense, or splice site mutations. The transcriptomes of over 100 melanomas has also been sequenced and analyzed. Almost 70% ... and mutations in the 61st or 12th codons trigger oncogenic activity. Loss-of-function mutations often affect tumor suppressor ...

https://en.wikipedia.org/wiki/Malignant_melanoma

... but releasing factor can recognize nonsense codons and causes the release of the polypeptide chain. The capacity of disabling ... Termination of the polypeptide happens when the A site of the ribosome faces a stop codon (UAA, UAG, or UGA). When this happens ... together with an mRNA molecule and matched up by base-pairing through the anti-codons of the tRNA with successive codons of the ...

https://en.m.wikipedia.org/wiki/Protein_biosynthesis

Nonsense mutations of Pax6 can lead to a condition called Aniridia which is associated with brain, olfactory, and pancreatic ... The nucleotide sequence corresponding to the linker region encodes a set of three alternative translation start codons from ... The pairedless proteins possess molecular weights of 43, 33, or 32kDa, depending on the particular start codon used. PAX6 ...

https://en.wikipedia.org/wiki/PAX6

... is caused by nonsense mutations in the SCN1A gene resulting in a premature stop codon and thus a non-functional ...

https://en.wikipedia.org/wiki/Dravet_syndrome

Artificial suppressor elongator tRNAs are used to incorporate unnatural amino acids at nonsense codons placed in the coding ... Highly expressed genes seem to be enriched in codons that are exclusively using codons that will be decoded by these modified ... have been used to initiate translation at the amber stop codon UAG. This type of engineered tRNA is called a nonsense ... Once the A/A and P/P tRNAs have moved to the P/P and E/E sites, the mRNA has also moved over by one codon and the A/T site is ...

https://en.wikipedia.org/wiki/Transfer_Rna

A mutation of this gene (including nonsense, splice site mutation, insertions, frameshift) has been identified as a possible ... RAD51 heterozygous mutations, specifically premature termination codons, have been found in many CMM disorder patients through ...

https://en.wikipedia.org/wiki/Congenital_mirror_movement_disorder

It is believed that Ataluren acts by promoting insertion of near-cognate tRNAs at the site of the nonsense codon without ... This drug would be effective for ~10% of patients with DMD who have a single mutation in the DMD gene causing a stop codon to ... "Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression". Proceedings of the National ... appear prematurely (nonsense mutation). Compared to the number of drug candidates that have successfully made it to the ...

https://en.wikipedia.org/wiki/RNA-targeting_small_molecule_drugs

The initial discovery of [PSI+] was made in a strain auxotrophic for adenine due to a nonsense mutation. Despite many years of ... leading to more frequent stop codon read-through and the development of novel phenotypes. With over 20 prion-like domains ... These strains cannot synthesize adenine due to a nonsense mutation in one of the enzymes involved in the biosynthetic pathway. ... Other prions also can form distinct different variants (or strains). It is believed that suppression of nonsense mutations in [ ...

https://en.wikipedia.org/wiki/Fungal_prion

Nonsense-Mediated Decay (NMD) (Rattus norvegicus) * Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ( ... Start codon recognition (Rattus norvegicus) * 48S complex [cytosol] (Rattus norvegicus) * 43S complex [cytosol] (Rattus ... Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) (Rattus norvegicus) * Formation of UPF1:eRF3 ... Ribosomal scanning and start codon recognition (Rattus norvegicus) * Ribosomal scanning (Rattus norvegicus) * 48S complex [ ...

https://reactome.org/content/detail/R-RNO-72383

Nonsense Codon Medicine & Life Sciences 8% * Uveitis Medicine & Life Sciences 8% View full fingerprint ... introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain- ... introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain- ... introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain- ...

https://pure.udem.edu.mx/en/publications/whole-exome-sequencing-in-three-children-with-sporadic-blau-syndr

Nonsense Codon Medicine & Life Sciences 69% * Growth Hormone Medicine & Life Sciences 57% ... Wajnrajch, M. P., Gertner, J. M., Harbison, M. D., Chua, S. C., & Leibel, R. L. (1996). Nonsense mutation in the human growth ... Wajnrajch, M. P. ; Gertner, J. M. ; Harbison, M. D. ; Chua, S. C. ; Leibel, R. L. / Nonsense mutation in the human growth ... We now report a nonsense mutation in the human GHRHR gene that results in profound GH deficiency in at least two members of a ...

https://einstein.pure.elsevier.com/en/publications/nonsense-mutation-in-the-human-growth-hormone-releasing-hormone-r-2

5.5.1 The Nonsense Codon Method 96,/p, ,p,5.5.2 Genetic Code Reprogramming 97,/p, ,p,5.5.3 The Four-base Codon Method 98,/p, ,p ...

https://wiley-vch.e-bookshelf.de/molecular-technology-volume-2-11581631.html

... for pharmaceuticals that are inducers of ribosomal readthrough of nonsense mutation mRNA stop codons.". I didnt realize there ...

https://community.parentprojectmd.org/group/PTC1242bTrials/forum/topics/ptc124-now-has-a-name

An X denotes a nonsense mutation coding a stop codon MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKP 50 R G T R P G TR R ... nonsense. Y231Ter. 235. rs149842031 dbSNP. SNPdbe. Multiple independent submissions to the refSNP cluster Validated by ... nonsense. E214Ter. 218. rs104894549. CM950103 dbSNP. HGMD. Multiple independent submissions to the refSNP cluster. Shaag (1995 ... "synonymous-codon"[Function_Class] AND ASPA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS] yields only 9 results ...

https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Task_5_-_Mapping_SNPs_Canavan&diff=prev&oldid=28095

https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Task_5_-_Mapping_SNPs_Canavan&diff=prev&oldid=28104

https://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php?title=Task_5_-_Mapping_SNPs_Canavan&diff=prev&oldid=28096

Genetically diagnosed with a nonsense (premature stop codon) mutation in the dystrophin gene. ... or premature stop codon) mutation. Participants will be randomized to receive either ataluren or placebo, to determine whether ... The drug is believed to promote the formation of full-length and functional dystrophin protein in boys with a nonsense ( ...

https://strongly.mda.org/clinical-trial-alert-ptc-therapeutics-seeks-participants-phase-3-dmd-study/

Modified vector mCherry-STOP (AKA CherryOFF-GFP) carrying a nonsense mutation at TRP98 codon. ... Modified vector mCherry-STOP (AKA CherryOFF-GFP) carrying a nonsense mutation at TRP98 codon. ...

https://data.mendeley.com/datasets/hrw2mmv7tn

... most amino acids have more than one possible codon. There are also three stop or nonsense codons signifying the end of the ... These codons can then be translated with messenger RNA and then transfer RNA, with a codon corresponding to a particular amino ... The genetic code is made up of three-letter words (termed a codon) formed from a sequence of three nucleotides (e.g. ACT, CAG ...

https://ns50.academickids.com/encyclopedia/index.php/DNA

https://wsw.academickids.com/encyclopedia/index.php/Deoxyribonucleic_acid

Animals, Codon, Nonsense, Dystrophin, Dystrophin-Associated Protein Complex, Exons, Frameshift Mutation, Genetic Therapy, ...

https://www.neuroscience.ox.ac.uk/publications/177245

MCQ: The substitutions that prematurely stops the synthesis of protein by generating the stop codon called as ... and nonsense for online bachelor degree programs. Practice bacterial genetics quiz questions for jobs assessment test and ...

https://mcqslearn.com/study/microbiology/mcq/genetics-of-bacterial-cells-multiple-choice-questions-answers.php

Many genetic diseases are caused by non-sense mutations that cause a premature stop codon in the protein-coding transcript. ... is trying to develop molecules that can induce translational readthrough across these disease-causing premature stop codons. ...

https://www.mugesh.org/cbresearch

For example, BIX 01294 supplier nonsense-mediated decay (NMD) rapidly degrades mRNAs with premature termination codons (Maquat ... 2004 ). Similarly, Nonstop Decay (NSD) focuses on truncated mRNAs that lack termination codons to quick 3-5 degradation from ...

https://teannualconference2015.info/eukaryotic-mrnas-are-subject-to-quality-control-mechanisms-that-degrade-defective/

This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense- ...

https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_000018.4%28ACADVL%29%3Ac.956C%3EA%20%28p.Ser319Ter%29

1011dup13 variant in theACADM gene results in the normal codon, Glutamine 338, being replaced by a Stop codon, denotedp.Q338X. ... predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay (NMD), which ... Variant summary: ACADM c.999_1011dup13 (p.Gln338X) results in a premature termination codon, ... 1011dup13 variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated ...

https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_000016.5%28ACADM%29%3Ac.999_1011dup%20%28p.Gln338Ter%29

To top it all off, there are "nonsense codons that were thought to be inactive, but become activated by an external stimulus. ... Answers in Genesis homepage also gives some interesting insights into how politics are intertwined with creationist nonsense. ...

https://laelaps.wordpress.com/2007/05/

The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons ... PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs the CBP80/CBP20 ...

https://www.bio-rad.com/en-us/prime-pcr-assays/assay/qhsaced0044525-primepcr-sybr-green-assay-ctif-human

... or lead to a stop codon nonsense. Review your SAR for errors and make any corrections as indicated. The major differences ... This can change a certain codon to code for a different amino acid missense , the same amino acid silent , ...

https://www.quintessencecuisine.com/sleep-disorders-essay

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was ... partially rescued by aminoglycoside-induced stop codon read-through. Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL (2012) ... activated nonsense-mediated decay, and produced a stable truncated γ2 subunit. Tian M, Macdonald RL (2012) J Neurosci 32(17): ...

https://labnodes.vanderbilt.edu/member/publications/id/11233/keyword_id/9612/keyword_name/Membrane

... a premature stop codon, leading to a shortened transcript (dbSNP term: nonsense. ) ... one base of a codon is changed resulting in a codon that encodes for a different amino acid (dbSNP term: missense. ) ... stop_lost - A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated ... stop_gained - A sequence variant whereby at least one base of a codon is changed, resulting in ...

http://www.noncode.org/cgi-bin/hgTrackUi?hgsid=2585242&c=chr9&g=snp147

The deletion causes a frameshift, which changes an Isoleucine to a Tyrosine at codon 605, and creates a premature stop codon at ... This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA ... which alters the proteins amino acid sequence beginning at codon 605 and leads to a premature stop codon at position 613. This ... Variant summary: The BRCA2 c.1813delA (p.Ile605Tyrfs) variant results in a premature termination codon, predicted to cause a ...

https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_000059.4%28BRCA2%29%3Ac.1813del

... which alters the proteins amino acid sequence beginning at codon 3079 and leads to a premature stop codon 4 codons downstream ... This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA ... The deletion causes a frameshift, which changes a Valine to a Phenylalanine at codon 3079, and creates a premature stop codon ... Variant summary: BRCA2 c.9235delG (p.Val3079PhefsX4) results in a premature termination codon, predicted to cause a truncation ...

https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_000059.3%28BRCA2%29%3Ac.9235del%20%28p.Val3079fs%29

Nonsense mutation은 Premature termination codon (PTC)을 발생시키는 변이로 coding 영역의 전체 단백을 정상적으로 발현시키지 못하고 조기 종결되어, 유전자의 입장에서는 기형 단백 ( ... 오늘은 그동안 정리하지 못했던 매우 중요한 개념인 Nonsense-mediated decay (NMD)와 최근에 Nature에 그 메커니즘이 발표된 NMD의 결과 발생하는 Genetic compensation에 대해서 정리해 ... Nonsense mutation은 Premature termination codon (PTC)을 발생시키는 변이로 coding 영역의 전체 단백을 정상적으로 발현시키지 못하고 조기 종결되어, 유전자의 입장에서는 기형 단백 ( ... tagged with dominant negative, Frameshift mutation, Genetic compensation, NMD, Nonsense mediated decay, Nonsense mutation, ...

https://2wordspm.com/2019/04/17/%EC%9C%A0%EC%A0%84%ED%95%99-%EC%A4%91%EC%9A%94-%EC%A0%95%EB%A6%AC-nonsense-mediated-decay-nmd-and-genetic-compensation/

Undoubtedly, itll be interesting to TAK-438 look for the system of its non-sense suppressive activity. Even though outcomes of ... Around one-third of hereditary disorders will be the consequence of mutations that generate early termination codons (PTCs) ... Just how and whether this issues with regard towards the system of PTC124-mediated non-sense suppression can be unclear. ... Up to now, PTC124 continues to be examined preclinically in varied types of nonsense-mediated disease, including CF (66), ...

https://sc-26196.com/around-one-third-of-hereditary-disorders-will-be-the-consequence-of-mutations/

Theyve used a synthetic RNA to chemically tweak nonsense codons so that they are instead read as bona fide amino acids, in ... In genetics nonsense is important too. A nonsense mutation inserts a "stop" right smack in the middle of a gene, like a period ... Genetic Sense and Nonsense. June 20, 2011. Tags: RNA modification, nonsense mutation, Cystic Fibrosis Foundation, World ... Ignoring a nonsense mutation can restore function, like saving a sentence truncated by an errant period with a stroke of white- ...

https://www.rickilewis.com/blog/tags/PSP

The duplication causes a frameshift which changes a Serine to an Isoleucine at codon 955, and creates a premature stop codon at ... 2018 05;39:593-620). This alteration is expected to result in loss of function by premature protein truncation or nonsense- ... Variant summary: BRCA1 c.2861dupT (p.Ser955IlefsX16) results in a premature termination codon, predicted to cause a truncation ... it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We ...

https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_007294.4%28BRCA1%29%3Ac.2861dup%20%28p.Ser955fs%29

... ing either a novel protein or a nonsense codon that terminates that translation of the protein. The children were walking a ...

https://cherylannshivan.com/60-cs98749-diamond-reels-50-free.html

Half of patient ZIC3 mutations introduce a premature termination codon (PTC). (biologists.org)
Approximately 30% of these mutations generate mRNA transcripts harboring premature termination codons (PTCs). (diabetesjournals.org)
Over 120 different HNF-1 α mutations have been reported ( 3 ), of which ∼30% are nonsense or frameshift and lead to the production of premature termination codons (PTCs) ( 4 ). (diabetesjournals.org)
Thus, the mRNA level can be reduced by nonsense-codon mutations, but the position of the mutation may be important, with earlier premature-translation termination having a greater effect than a later mutation. (elsevier.com)
Nonsense-mediated mRNA decay (NMD) is an mRNA surveillance pathway which ensures the rapid degradation of mRNAs containing premature translation termination codons (PTCs or nonsense codons), thereby preventing the accumulation of truncated and potentially harmful proteins. (ox.ac.uk)
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene leading to the presence of premature termination codons (PTC). (nih.gov)
In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. (mdpi.com)
Any of three codons, UAA, UAG, or UGA, that signal the termination of the synthesis of a protein. (thefreedictionary.com)
Also called chain termination codon , termination codon . (thefreedictionary.com)
Only the constitutively spliced isoform b encodes a putative full-length PPO protein based on its coding sequence whereas the other seven spliced isoforms, a , c, d, e, f, g and h , have premature termination codons resulting in potential nonsense-mediated mRNA decay. (springer.com)
The nonsense‐mediated mRNA decay (NMD) pathway degrades mRNAs with premature translation termination codons (PTCs). (embopress.org)
Nonsense‐mediated mRNA decay (NMD) is a conserved mRNA quality control mechanism (surveillance) that ensures the fidelity of gene expression by detecting and degrading mRNAs containing premature translation termination codons (PTCs, nonsense codons). (embopress.org)
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). (harvard.edu)
PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. (harvard.edu)
Premature termination codon readthrough in Drosophila varies in a developmental and tissue-specific manner. (harvard.edu)
Nonsense-mediated decay (NMD) eliminates transcripts with premature termination codons. (nature.com)
Nonsense-mediated decay (NMD) is a physiological cellular surveillance system that degrades abnormal mRNAs with premature termination codons (PTCs) 1 . (nature.com)
Hori K, Watanabe Y (2007) Context analysis of termination codons in mRNA that are recognized by plant NMD. (springer.com)
These codons are also known as nonsense codons or termination codons as they do not code for an amino acid. (jazzledazzlecrafts.com)
Termination is a very efficient mechanism that is tightly controlled by the type of stop codon encountered (UAA, UAG, or UGA). (jazzledazzlecrafts.com)
They are also called termination codons or nonsense codons. (jazzledazzlecrafts.com)
Of the total of 64 codons, 61 encode amino acids and 3 specify termination of translation. (jazzledazzlecrafts.com)
A nonsense mutation occurs when a sense codon, one that codes for an amino acid, is changed to a chain‐termination codon, UAG, UAA or UGA. (els.net)
Nonsense suppression competes with chain termination. (els.net)
Most of the CYP3A5 * 3 mRNA includes an intronic sequence (exon 3B) containing premature termination codons (PTCs) between exons 3 and 4. (aspetjournals.org)
These abnormally spliced messengers contain several in-frame premature termination codons (PTC), explaining the low protein level. (aspetjournals.org)
UPF1 mainly localizes to the cytoplasm and, via mechanisms that are linked to translation termination but not yet well understood, stimulates rapid destruction of mRNAs carrying a PTC (premature translation termination codon). (biochemsoctrans.org)
NMD is a mechanism that eliminates mRNAs containing premature translation-termination codons (PTCs). (ebi.ac.uk)
In the NSD pathway, which targets mRNAs lacking termination codons, the ribosome is believed to translate through the 3' untranslated region and stall at the end of the poly(A) tail. (ebi.ac.uk)
More than 30% of the LQT2 mutations result in premature termination codons. (ahajournals.org)
Degradation of premature termination codon-containing mRNA transcripts by nonsense-mediated mRNA decay is increasingly recognized as a mechanism for reducing mRNA levels in a variety of human diseases. (ahajournals.org)
More than 30% of LQT2 mutations are nonsense or frameshift mutations that introduce premature termination codons (PTCs). (ahajournals.org)
The three codons UAG (Amber), UAA (Ochre), and UGA (Opal) are usually translation termination signals. (sdsu.edu)
Release Factor 1 is required for termination at UAG and UAA codons, release factor 2 is required for termination at UAA and UGA codons, and release factor 3 accelerates the release of ribosomes from the mRNA. (sdsu.edu)
Two possible events can occur when a ribosome encounters a nonsense codon in a strain with a nonsense suppressor: (1) termination of peptide elongation can occur if the appropriate release factors associate with the ribosome, or (2) an amino acid can be inserted into the growing peptide chain if the suppressor tRNA associates with the ribosome. (sdsu.edu)
An alternative explanation relies on the observation that ochre codons are the most common termination signal used at the end of genes. (sdsu.edu)
1996. Suppression of termination codons. (sdsu.edu)
The first evidence concerns the destruction of nuclear mRNAs containing premature termination codons by nonsense-mediated decay (NMD). (biologists.org)
Only ribosomes can detect termination codons, and as some NMD occurs within the nuclear fraction, active nuclear ribosomes could perform the required detection. (biologists.org)
All these results are simply explained if nuclear ribosomes scan nascent transcripts for premature termination codons at the site of transcription. (biologists.org)
With the discovery of introns, there seemed to be a good case why eukaryotes should be different from prokaryotes: if nuclear ribosomes were to translate introns with their many termination codons, too many truncated peptides would be produced, and some of these might be toxic to the cell. (biologists.org)
Because translating ribosomes are the only known means of detecting termination codons, and because some NMD occurs within the nuclear fraction, it is attractive to suppose that the NMD scanning mechanism utilizes active nuclear ribosomes ( Wilkinson and Shyu, 2002 ). (biologists.org)
A typical mammalian mRNA has 7-8 exon-exon junctions generated by splicing, and the termination codon is almost invariably found in the last exon (and so is not followed by an exon-exon junction). (biologists.org)
for example, tethering a UPF downstream of the normal termination codon elicits NMD (Lykke-Anderson et al. (biologists.org)
Nonsense mutations are also single base changes, but create a termination codon that stops the transcription of the gene. (encyclopedia.com)

In vivo , PTC-containing transcripts might be targeted for nonsense-mediated decay (NMD). (biologists.org)
Degradation of such transcripts by the nonsense-mediated decay (NMD) pathway has been reported for many genes. (diabetesjournals.org)
For example, many transcripts harboring PTCs do not produce truncated proteins since they are degraded by the nonsense-mediated decay (NMD) pathway ( 14 ). (diabetesjournals.org)
Eukaryotic cells can be protected against mutations that generate stop codons by nonsense-mediated mRNA decay (NMD) and/or nonsense-associated altered splicing (NAS). (csic.es)
as alterations in splicing, translation or nonsense -mediated decay. (yahoo.com)
Nonsense-mediated decay (NMD) has been suggested to be responsible for the observed reduction, but there is no experimental evidence supporting this claim. (nih.gov)
Second, PTCs trigger degradation of an mRNA by activating nonsense-mediated mRNA decay (NMD), a cellular pathway that recognizes and degrades mRNAs containing a PTC. (mdpi.com)
The non-productive splicing variants were shown to be downregulated by the nonsense-mediated mRNA decay (NMD) in human cell lines, suggesting that GSDMB levels are significantly modulated by NMD. (mdpi.com)
Analysis of SMG-1, a PIKK family member involved in nonsense-mediated mRNA decay (NMD), revealed an essential role for RUVBL1 and RUVBL2 in NMD. (sciencemag.org)
For more than 60% of all regulated AS events, light promoted the production of a presumably protein-coding variant at the expense of an mRNA with nonsense-mediated decay-triggering features. (plantcell.org)
Arciga-Reyes L, Wootton L, Kieffer M, Davies B (2006) UPF1 is required for nonsense-mediated mRNA decay (NMD) and RNAi in Arabidopsis . (springer.com)
Indeed, stop codons located at least 50-55 nt upstream of an exon-exon boundary are generally defined as premature, whereas most PTCs downstream of this point do not elicit decay ( Nagy and Maquat, 1998 ). (embopress.org)
Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. (springer.com)
This study reveals that mRNA processing in the mutant background often produces transcripts that escape nonsense-mediated decay, thereby potentially preserving gene function. (plos.org)
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC). (uniprot.org)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC). (uniprot.org)
Gln503*), resulting in a premature stop codon and mRNA degradation through nonsense-mediated decay. (muni.cz)
Cycloheximide prevents the recognition of PTCs by ribosomes: in transfected MCF7 and HepG2 cells, cycloheximide slowed down the degradation of exon 3B-containing splice variants, suggesting the participation of nonsense-mediated decay (NMD). (aspetjournals.org)
Nonsense-mediated mRNA decay (NMD) represents a phylogenetically widely conserved splicing- and translation-dependent mechanism that eliminates transcripts with premature translation stop codons and suppresses the accumulation of C-terminally truncated peptides. (bloodjournal.org)
1 Synthesis of large amounts of C-terminally truncated polypeptides encoded by such transcripts is avoided by a splicing- and translation-dependent mechanism termed nonsense-mediated decay (NMD). (bloodjournal.org)
UPF1 (up-frameshift 1) is a protein conserved in all eukaryotes that is necessary for NMD (nonsense-mediated mRNA decay). (biochemsoctrans.org)
These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go decay (NGD). (ebi.ac.uk)
However, the role of nonsense-mediated mRNA decay in LQT2 mutations has not been explored. (ahajournals.org)
Treatment with the protein synthesis inhibitor cycloheximide or RNA interference-mediated knockdown of the Upf1 protein resulted in the restoration of mutant mRNA to levels comparable to that of the wild-type minigene, suggesting that hERG nonsense mutations are subject to nonsense-mediated mRNA decay. (ahajournals.org)
Conclusions- These results indicate that LQT2 nonsense mutations cause a decrease in mutant mRNA levels by nonsense-mediated mRNA decay rather than production of truncated proteins. (ahajournals.org)
Our findings suggest that the degradation of hERG mutant mRNA by nonsense-mediated mRNA decay is an important mechanism in LQT2 patients with nonsense or frameshift mutations. (ahajournals.org)
8,12-18 However, it is now becoming clear that nonsense and frameshift mutations bearing PTCs can destabilize mRNA transcripts via a mechanism known as nonsense-mediated mRNA decay (NMD) in many human diseases, resulting in decreased abundance of mutant mRNA transcripts rather than in production of truncated proteins. (ahajournals.org)
UPF1, a conserved nonsense-mediated mRNA decay factor, regulates cyst wall protein transcripts in Giardia lamblia. (nih.gov)
Messenger RNAs containing premature stop codons are rapidly degraded by a nonsense-mediated mRNA decay (NMD) system to avoid production of non-functional proteins. (nih.gov)
The nonsense-mediated mRNA decay (NMD) pathway functions to degrade both abnormal and wild-type mRNAs. (elifesciences.org)
One such quality control mechanism is called nonsense-mediated decay (NMD). (elifesciences.org)
This mechanism is so important that cells that cannot perform nonsense-mediated decay die, although it is not clear exactly what kills the cells. (elifesciences.org)
have found that fruit flies whose cells are unable to perform nonsense-mediated decay die because a harmful protein called Gadd45 builds up in the cells. (elifesciences.org)
In normal cells, nonsense-mediated decay destroys the mRNA that relays the instructions for making Gadd45, which keeps the amount of the Gadd45 protein in the cell low. (elifesciences.org)
Further experiments show that removing Gadd45 from cells that lack nonsense-mediated decay saves the flies. (elifesciences.org)
Removing Gadd45 from human and mouse cells that are unable to perform nonsense-mediated decay also allows these cells to survive. (elifesciences.org)
These findings imply that the only nonsense-mediated decay function needed for cells to live is the destruction of Gadd45 mRNA. (elifesciences.org)
This further implies that most faulty and normal mRNAs that are normally destroyed by nonsense-mediated decay do not cause the cells to die when nonsense-mediated decay is lost. (elifesciences.org)
Learning that creating faulty proteins when nonsense-mediated decay is lost is not necessarily harmful to cells opens new possibilities to treating numerous genetic diseases. (elifesciences.org)
Nonsense-mediated decay normally destroys all of these mutant proteins, but it may sometimes be better to have faulty versions of a protein than to have none of it. (elifesciences.org)
Safely getting rid of nonsense-mediated decay by also eliminating Gadd45 from cells may therefore be a treatment strategy worth exploring. (elifesciences.org)

The mechanisms by which PTCs and natural stop codons are discriminated remain unclear. (embopress.org)
Genetic disorders are commonly caused by nonsense or frameshift mutations that introduce premature translation stop codons (PTCs). (bloodjournal.org)
NMD is an RNA surveillance mechanism that selectively degrades mRNA transcripts containing PTCs resulting from nonsense or frameshift mutations. (ahajournals.org)

Any of the 3 codons (or triplets of nucleotides-UAA, UAG and UGA) on an mRNA molecule which lack a cognate aminoacyl tRNA-i.e., do not code for an amino acid and thus signal the end of protein synthesis. (thefreedictionary.com)
One of the three nucleotide triplets (codons), UAG, UAA or UGA that mark an end point to a particular protein synthesis. (thefreedictionary.com)
Ataluren suppresses nonsense mutations, which enables the production of a modified dystrophin protein. (nih.gov)
Each codon indicates which amino acid is created for a given protein, following a sequence of codons that work with each other in this fashion. (reference.com)
A codon is a set of three nucleotides that code for an amino acid or act as a stop signal to tell the cell machinery when to halt protein translation. (reference.com)
[1] [2] The standard genetic code is traditionally represented as an RNA codon table, because when proteins are made in a cell by ribosomes , it is messenger RNA that directs protein biosynthesis . (wikipedia.org)
In some patients with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein. (clinicaltrials.gov)
We demonstrate that homozygous nonsense mutations in KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. (nih.gov)
The sequence anomaly disrupts the reading frame and introduces a premature stop codon , resulting in the majority of the protein not being translated. (thefreedictionary.com)
Here, we compare for the first time the relative efficacies of new-generation aminoglycosides NB30, NB54 and the chemical compound PTC124 on retinal toxicity and read-through efficacy of a nonsense mutation in the USH1C gene, which encodes the scaffold protein harmonin. (nih.gov)
The start codon marks the site at which translation into protein sequence begins, and the stop codon marks the site at which translation ends. (jazzledazzlecrafts.com)
Of these 64 codons, 61 represent amino acids, and the remaining three represent stop signals, which trigger the end of protein synthesis. (jazzledazzlecrafts.com)
An RNA molecule that functions as an interpreter between nucleic acid and protein language by picking up specific amino acids and recognizing the appropriate codons in the mRNA. (jazzledazzlecrafts.com)
The nonsense codons UAG, UAA and UGA do not code for amino acids, but signal the end of the protein‐coding sequence in the mRNA. (els.net)
He established the existence of messenger RNA (mRNA) - the 'working tape' copy of genetic material from which cells make proteins - and found that each amino acid in a protein is specified by a set of three building blocks, or nucleotides, in the RNA chain, which he termed "codon. (laskerfoundation.org)
He also deciphered the stop codons, which terminate protein synthesis. (laskerfoundation.org)
Each successive three-letter DNA sequence - known as a codon - specifies which amino acid should be added next to a growing chain of amino acids to create a protein. (newscientist.com)
This goes on until the protein-making machinery reaches a codon that says stop. (newscientist.com)
It focuses on tRNAs, the molecules that recognise codons during the production of a protein, and match the right amino acid to them. (newscientist.com)
It's possible to make artificial tRNAs that recognise a premature stop codon, and instead of terminating the protein-making process, add the amino acid required to make a useful protein. (newscientist.com)
Once inside a cell, the artificial tRNAs compete with the proteins that normally bind to stop codons and halt protein production. (newscientist.com)
There have already been trials of drug compounds that interfere with the protein-making machinery, making it ignore premature stop codons. (newscientist.com)
Codon ATG always corresponds to aminoacid methionine in the corresponding protein, GTG to valine, and so the 64 different codons map to the 20 different aminoacids. (bmj.com)
This mutation creates a premature stop codon that prevents the translation of a full-length dystrophin protein. (medscape.com)
Ataluren is designed to promote readthrough of this premature stop codon, thus enabling the production of a full-length dystrophin protein. (medscape.com)
4-7 These PTC mutations generally are assumed to result in truncated dysfunctional channel proteins, and several nonsense and frameshift mutations have been studied at the protein level. (ahajournals.org)
Our results show the first nonsense mutation in the HOXD13 gene underlying a severe form of SPD in the homozygous state, and a milder form of SPD with ∼50% penetrance in the heterozygous state, most likely because of the production of 50% of protein compared with normal individuals. (nih.gov)
Although this research holds great potential, more work is required to see if it applicable to humans and human diseases, especially as the protein produced may not be exactly the same as the one produced in a cell without the premature stop codon. (bionews.org.uk)

insulin gene 的第三個 codon 由TGG 突變為 TCG → codon 是指mRNA. (yahoo.com)
The stop codons suppression of the mutant was analyzed in vivo using PGK-stop codon-LACZ gene fusion and showed that the suppression of the mutant was significantly increased in all of codon terminations. (ijbs.com)
Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codongenerating mutation of the OAT gene in GA pedigrees. (elsevier.com)
The yearlong trial has only been made available to patients with a rare form of Duchenne muscular dystrophy as it just targets a particular type of gene fault, called a stop codon mutation. (thefreedictionary.com)
Translational read-through-inducing drugs (TRIDs) promote read-through of nonsense mutations, placing them in the spotlight of current gene-based therapeutic research. (nih.gov)
Nonsense mutations introduce premature stop codons in the reading frame of a gene. (businesswire.com)
Between 10% and 15% of patients with DMD have a nonsense mutation in the DMD gene. (medscape.com)
Candidate gene analysis led to identification of a nonsense mutation in the gene encoding synapsin I that was present in all affected family members and female carriers and was not present in 287 control chromosomes. (bmj.com)
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. (nih.gov)
Direct sequencing analysis of HOXD13 gene revealed a nonsense mutation, designated as Q248X. (nih.gov)

Metabolic stress promotes stop-codon readthrough and phenotypic heterogeneity. (harvard.edu)
Other suppressors increase the readthrough of the nonsense mutation. (els.net)
Changes in the ribosome or other components of the translational apparatus can modify decoding and thus enhance or reduce readthrough of nonsense codons. (els.net)
Nonsense mutations can be corrected by premature stop codon readthrough drugs such as gentamicin. (wiley.com)

When ribosomes hit a stop codon, mRNA transcription is terminated, causing polypeptide synthesis to stop and the ribosome to dissociate from the mRNA. (thefreedictionary.com)
[7] Three sequences, UAG, UGA, and UAA, known as stop codons , [note 1] do not code for an amino acid but instead signal the release of the nascent polypeptide from the ribosome. (wikipedia.org)
Translation proceeds sequentially along the mRNA molecule from the start codon nearest the ribosome-binding site terminating at stop codons and reinitiating at the next start codon. (thefreedictionary.com)
When a ribosome reaches any of these stop codons, the translation of proteins is terminated. (jazzledazzlecrafts.com)
Compare/contrast: Start codons are specific codon (AUG) that signals to the ribosome that the translation commences at that point. (jazzledazzlecrafts.com)
Unusual base pairing during the decoding of a stop codon by the ribosome. (rochester.edu)

The three consecutive DNA bases, called nucleotide triplets or codons, are translated into amino acids (GCA to alanine , AGA to arginine , GAT to aspartic acid , AAT to asparagine , and TGT to cysteine in this example). (wikipedia.org)
The first table-the standard table-can be used to translate nucleotide triplets into the corresponding amino acid or appropriate signal if it is a start or stop codon. (wikipedia.org)

The suppression on UAG codon was the highest increased among the stop codons by comparing the suppression of the wild type respectively. (ijbs.com)
The data suggested that increasing stop codon suppression and decreasing of the binding affinity of eRF1(Y410S) were probably due to the slight modification on the structure of the C-terminal domain. (ijbs.com)
This bulletin focuses on new and emerging drugs for DMD with completed phase IIb or phase III trials and includes ataluren (nonsense mutation suppression), eteplirsen (exon 51 skipping), and idebenone (adenosine triphosphate [ATP] modulation). (nih.gov)
There are currently two genetic strategies in development that attempt to re-establish the expression of dystrophin in muscle: suppression of nonsense mutations and exon skipping. (nih.gov)
Due to their relatively low threshold for correction, lysosomal storage diseases are a particularly relevant group of diseases to investigate the feasibility of nonsense suppression as a therapeutic approach. (mdpi.com)
2017) Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity. (els.net)
Bhattacharya A, Köhrer C, Mandal D and RajBhandary UL (2015) Nonsense suppression inarchaea. (els.net)
Inducing nonsense suppression by targeted pseudouridylation. (rochester.edu)
1] The suppression efficiency varies for different sites because the mRNA sequence following the nonsense codon influences how well the suppressor tRNA works. (sdsu.edu)
Previously, we have found that the giardial homologue of a conserved NMD factor, UPF1, may be functionally conserved and involved in NMD and in preventing nonsense suppression. (nih.gov)

The codons are essentially the instructions for cells to create the proteins needed to create life, forming the basis of cell communication. (reference.com)
When translating ribosomes encounter a stop codon upstream of an EJC, the recruitment of UPF1 by translation release factors leads to an interaction with the UPF2 and UPF3 proteins bound to the downstream EJC, and thus to the assembly of the surveillance complex and to mRNA degradation (reviewed by Lejeune and Maquat, 2005 ). (embopress.org)
I started with G because the glycine - the simplest amino acid [that makes up proteins] - can be coded with the codon GGG. (haaretz.com)
One danger is that the artificial tRNAs may interfere with correct stop codons, messing up other proteins. (newscientist.com)
How do normal proteins terminate in cells with nonsense suppressors? (sdsu.edu)

Moreover, the mutation c.504_505delCT produces two mRNA transcripts both with stop codons that generate simultaneous NMD phenomena. (csic.es)

Where are stop codons located? (jazzledazzlecrafts.com)

A common explanation given for this problem is that there may be tandem nonsense codons at the end of most genes. (sdsu.edu)
However, now that we know the DNA sequence of multiple genomes, it is apparent that this explanation is inadequate -- although some genes end with two nonsense codons, many genes end with a single nonsense codon. (sdsu.edu)
Our results indicate that NMD factor could contribute to the regulation of not only nonsense containing mRNAs, but also mRNAs of the key encystation-induced genes and other endogenous genes in the early-diverging eukaryote, G. lamblia. (nih.gov)

In RNA, it is replaced with uracil (U). This is the only difference between the standard RNA codon table and the standard DNA codon table. (wikipedia.org)

A nonsense codon created at position 79 (TGA) by a frameshift and nonsense mutations at codons 209 (TAT→TAA) and 299 (TAC→TAG) result in abnormally low levels of OAT mRNA in the patient's skin fibroblasts. (elsevier.com)
The objective is to comparatively analyze mutations specifically those that caused the frameshift and nonsense mutations and to assess their scale and potential impacts on human-chimpanzee divergence. (hindawi.com)

Stop codons are recognized by release factors (eRF1 and eRF3), which promote hydrolysis of the peptidyl-tRNA bond in the peptidyl transferase center (P-site) of the large ribosomal subunit. (jazzledazzlecrafts.com)
Compare/contrast: The triplet of bases on the mRNA is called the codon and the complementary triplet on the tRNA is called the anticodon. (jazzledazzlecrafts.com)
The anticodon on a tRNA molecule is complementary to the mRNA codon and brings in the needed amino acid. (jazzledazzlecrafts.com)
Some suppressor mutations change the anticodon of a transfer ribonucleic acid (tRNA) so that it can pair with the nonsense codon. (els.net)
Near cognate tRNA may bind especially if the two 3′ nucleotides of the anticodon can base pair with the 5′ nucleotides of the codon. (els.net)
Nonsense suppressors are produced by base substitution mutations in the DNA corresponding to the anticodon of a tRNA that cause the anticodon to pair with one of the terminarion (or "nonsense") codons, UAG (Amber), UAA (Ochre), or UGA (Opal). (sdsu.edu)
2] Note that this suppressor tRNA can still recognize the wild-type Trp codon as well as the UGA codon. (sdsu.edu)

The nucleotides found in codons determine what purpose that codon has in the DNA or RNA sequence. (reference.com)
The start and stop codons in RNA - the codons that tell the strand the beginning and end of its sequence - are AUG for start and UAA, UGA and UAG for stop. (reference.com)
Without these codons, it would be impossible for cells to tell where or how the sequence should be used. (reference.com)
A codon is a sequence of three nitrogenous bases that code for a single amino acid. (reference.com)
A codon table can be used to translate a genetic code into a sequence of amino acids . (wikipedia.org)
[8] In the standard code, the sequence AUG-read as methionine -can serve as a start codon and, along with sequences such as an initiation factor , initiates translation. (wikipedia.org)
Each three-letter sequence of mRNA nucleotides corresponds to a specific amino acid, or to a stop codon. (jazzledazzlecrafts.com)
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence. (jazzledazzlecrafts.com)
A nonsense mutation is a point mutation in a DNA sequence that leads to an early stop codon . (wikipedia.org)
codons), which is then transcribed into the messenger RNA sequence AUG GUG. (bmj.com)
At the end of this mRNA there is normally a stop codon - a three-letter sequence that tells the machinery to cease activity - but problems can arise if this appears in the wrong place. (bionews.org.uk)

The Garen lab also showed that certain triplet codons (5'-UAG, 5'-UAA, and 5'-UGA) failed to bind amino acids. (wikipedia.org)
These events led to the occurrence of a stop codon at positions corresponding to amino acids 39, 74, or 83. (thefreedictionary.com)
Terminator codons do not specify amino acids. (harvard.edu)
Do start and stop codons code for amino acids? (jazzledazzlecrafts.com)
The degeneracy of the genetic code refers to the fact that most amino acids are specified by more than one codon. (jazzledazzlecrafts.com)

The rs386834143 variant introduces a premature stop codon in place of glutamate at amino acid 14. (alzforum.org)
The rs104894001 variant introduces a premature stop codon in place of tryptophan at amino acid 44. (alzforum.org)

Thus, the Garen lab and Brenner labs are both credited with discovery of the stop codons of the genetic code. (wikipedia.org)
[5] Different tables with alternate codons are used depending on the source of the genetic code, such as from a cell nucleus , mitochondrion , plastid , or hydrogenosome . (wikipedia.org)
The genetic code was once believed to be universal: a codon would code for the same amino acid regardless of the organism or source. (wikipedia.org)
However, it is now agreed that the genetic code evolves, resulting in discrepancies in how a codon is translated depending on the genetic source. (wikipedia.org)
There are 3 STOP codons in the genetic code - UAG, UAA, and UGA. (jazzledazzlecrafts.com)
It is known that the introduction of tRNAs that are targeted to stop codons is tolerated in animals," says Jason Chin of the University of Cambridge, whose team is using artificial tRNAs to expand the genetic code in animals such as worms and fruit flies. (newscientist.com)

each nucleotide triplet (called a codon) specifies a particular amino acid. (jazzledazzlecrafts.com)

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons. (ox.ac.uk)

Eloxx is planning to initiate multiple clinical studies for ELX-02, its lead development candidate, and anticipates achieving substantial clinical milestones over the course of 2017 and 2018, particularly in the lead clinical programs in cystic fibrosis and cystinosis patients carrying nonsense mutations. (businesswire.com)
This financing enables us to initiate multiple clinical studies for ELX-02 including phase 2 studies in Cystic Fibrosis and Cystinosis patients carrying nonsense mutations. (businesswire.com)
ELX-02 has shown pharmacological, pharmacodynamic and physiological effects in several animal models of genetic disease caused by nonsense mutations including Cystic Fibrosis (CF), Cystinosis, Duchene Muscular Dystrophy (DMD), Rett syndrome and mucopolysaccharidose type I (MPS I). (businesswire.com)

Two types of nucleotide substitution mutations are missense and nonsense mutations. (encyclopedia.com)

these codons normally represent valine and leucine , respectively, but as start codons they are translated as methionine or formylmethionine . (wikipedia.org)

A nonsense suppressor can result from a second mutation affecting the translational apparatus. (els.net)

In messenger RNA, each codon specifies for an amino acid. (reference.com)
Stop codon: A set of three adjacent bases in the DNA or their complementary bases in messenger RNA that specifies the end of a polypeptide chain. (jazzledazzlecrafts.com)

In messenger RNA, what does each codon specify? (reference.com)
Messenger RNA codons code for a total of 20 amin. (reference.com)

A nonsense codon has the effect of prematurely stopping the transcription of RNA or DNA and preventing the effective synthesis of polypeptide chains. (reference.com)

The three-letter nature of codons means that the four nucleotides found in mRNA - A, U, G, and C - can produce a total of 64 different combinations. (jazzledazzlecrafts.com)

A to T at codon 6= Valine for Glutamic acid. (studystack.com)

可分以下兩種類型：→ →1) Codon -specific suppressors →2) Polarity. (yahoo.com)
Examples of nonsense suppressors produced by single base substitutions in E. coli are shown in the following table. (sdsu.edu)

The start codon always codes for methionine in eukaryotes and Archaea and a modified Met (fMet) in bacteria, mitochondria and plastids. (jazzledazzlecrafts.com)

密碼子，其中3個為終止密碼子(stop codons )，又稱'無意義密碼"( nonsense codon s )，即UAA(ochre)、UAG(amber)及UGA(opal)。 (yahoo.com)
Biochemistry portal Biology portal Evolutionary biology portal Bioinformatics List of genetic codes Each stop codon has a specific name: UAG is amber, UGA is opal or umber, and UAA is ochre. (wikipedia.org)
The historical basis for designating the stop codons as amber, ochre and opal is described in the autobiography of Sydney Brenner and in a historical article by Bob Edgar. (wikipedia.org)
Note that because of the wobble rules amber suppressing tRNAs can only read UAG codons, but ochre-suppressing tRNAs can read both UAA and UAG codons. (sdsu.edu)

The presence of premature stop codons in some of the nad2 and coI sequences of the familial analysis is striking and is the strongest argument for nuclear pseudogenes, but pseudogenes in the nuclear genome would have to both occur at a low enough frequency for the male contribution to be unobservable within these data but also have undergone enough duplication to account for the observed haplotype diversity. (thefreedictionary.com)

In the few coding sequences available at that time, TAA was observed to be the most abundant stop codon. (jazzledazzlecrafts.com)

或基因上coupled transcription and translation的不對稱現象。因為 nonsense mutation在RNA產生出的stop codon ，讓 (yahoo.com)

The three stop codons are UAG (the amber codon), UAA and UGA. (thefreedictionary.com)

A codon is on an mRNA molecule. (jazzledazzlecrafts.com)

These are known as nonsense mutations, and they cause about 10 per cent of all genetic diseases. (newscientist.com)
Experiments in yeast have shown how chemical modifications can allow a cell 's machinery to ignore mistakes in DNA known as nonsense mutations. (bionews.org.uk)

This mutation enables the cell to insert an amino acid in response to the nonsense codon, resulting in a wild‐type or near wild‐type phenotype. (els.net)
The SYN1 nonsense mutation that was identified is the likely cause of the phenotype in this family. (bmj.com)

Anatomy3

Organisms2

Diseases17

Chemicals and Drugs56

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Psychiatry and Psychology1

Phenomena and Processes84

Information Science4

Named Groups1

Health Care2

Infrequent translation of a nonsense codon is sufficient to decrease mRNA level. (1/1486)

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. (2/1486)

Facile characterization of translation initiation via nonsense codon suppression. (3/1486)

A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. (4/1486)

Nonsense-mediated mRNA decay in health and disease. (5/1486)

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. (6/1486)

Mutations in VPS16 and MRT1 stabilize mRNAs by activating an inhibitor of the decapping enzyme. (7/1486)

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA. (8/1486)

Codon, Nonsense

Codon

Codon, Terminator

Codon, Initiator

Base Sequence

Mutation

Molecular Sequence Data

Suppression, Genetic

DNA Mutational Analysis

Exons

Pedigree

Frameshift Mutation

Amino Acid Sequence

Protein Biosynthesis

Genetic Code

Peptide Chain Termination, Translational

RNA, Messenger

Point Mutation

Mutation, Missense

Phenotype

RNA, Transfer

Polymerase Chain Reaction

Alleles

Escherichia coli

Homozygote

Peptide Termination Factors

Polymorphism, Single-Stranded Conformational

Sequence Analysis, DNA

Cloning, Molecular

Genes, Recessive

Genes

Introns

Anticodon

Heterozygote

Consanguinity

RNA Splicing

Genotype

Sequence Deletion

Triose-Phosphate Isomerase

DNA Primers

Ribosomes

Genes, Bacterial

Chromosome Mapping

Polymorphism, Genetic

Saccharomyces cerevisiae

Peptide Chain Initiation, Translational

Plasmids

Base Composition

Transcription, Genetic

DNA

Paromomycin

Reading Frames

Genes, Suppressor

Nucleic Acid Conformation

Restriction Mapping

RNA, Transfer, Ser

Genes, Dominant

Evolution, Molecular

RNA, Transfer, Trp

RNA Splice Sites

Alternative Splicing

Models, Genetic

Terminator Regions, Genetic

Genetic Complementation Test

Frameshifting, Ribosomal

Sequence Homology, Amino Acid

RNA, Transfer, Amino Acyl

Exome

Sequence Alignment

Oxadiazoles

Germ-Line Mutation

Genetic Linkage

Syndrome

Sequence Homology, Nucleic Acid

RNA, Transfer, Gln

Amino Acid Substitution

DNA, Complementary

Genes, ras

Gene Deletion

Selection, Genetic