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Nonsense mutation, the Glossary

In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a nonsense codon, or a premature stop codon in the transcribed mRNA, and leads to a truncated, incomplete, and possibly nonfunctional protein product.^[1]

74 relations: ACVRL1, Alanine, Amino acid, Aminoglycoside, Arginine, Ataluren, Beta thalassemia, Brazil, Cancer, Cell biology, Cellular differentiation, CRISPR gene editing, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Cytosine, DNA, Downregulation and upregulation, Dravet syndrome, Duchenne muscular dystrophy, Emily's Entourage, Eukaryote, European Economic Area, Fitness (biology), Gene, Genetic code, Genetics, Histidine, Hurler syndrome, In vivo, LGR4, Messenger RNA, Metabolic disorder, Methionine, Missense mRNA, Missense mutation, Mothers against decapentaplegic homolog 9, Mutant, Neurological disorder, Nonsense suppressor, Nonsense-mediated decay, Nucleic acid sequence, Nucleotide, Oligonucleotide, Organism, Osteoblast, Osteoporosis, Oxadiazole, Pathogenesis, Pathology, Peptide, ... Expand index (24 more) »
Modification of genetic information

ACVRL1

Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.

See Nonsense mutation and ACVRL1

Alanine

Alanine (symbol Ala or A), or α-alanine, is an α-amino acid that is used in the biosynthesis of proteins.

See Nonsense mutation and Alanine

Amino acid

Amino acids are organic compounds that contain both amino and carboxylic acid functional groups.

See Nonsense mutation and Amino acid

Aminoglycoside

Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial medications that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside (sugar).

See Nonsense mutation and Aminoglycoside

Arginine

Arginine is the amino acid with the formula (H2N)(HN)CN(H)(CH2)3CH(NH2)CO2H.

See Nonsense mutation and Arginine

Ataluren

Ataluren, sold under the brand name Translarna, is a medication for the treatment of Duchenne muscular dystrophy.

See Nonsense mutation and Ataluren

Beta thalassemia

Beta thalassemias (β thalassemias) are a group of inherited blood disorders.

See Nonsense mutation and Beta thalassemia

Brazil

Brazil, officially the Federative Republic of Brazil, is the largest and easternmost country in South America and Latin America.

See Nonsense mutation and Brazil

Cancer

Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.

See Nonsense mutation and Cancer

Cell biology

Cell biology (also cellular biology or cytology) is a branch of biology that studies the structure, function, and behavior of cells.

See Nonsense mutation and Cell biology

Cellular differentiation

Cellular differentiation is the process in which a stem cell changes from one type to a differentiated one.

See Nonsense mutation and Cellular differentiation

CRISPR gene editing

CRISPR gene editing (CRISPR, pronounced "crisper", refers to "clustered regularly interspaced short palindromic repeats") is a genetic engineering technique in molecular biology by which the genomes of living organisms may be modified.

See Nonsense mutation and CRISPR gene editing

Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably Staphylococcus aureus.

See Nonsense mutation and Cystic fibrosis

Cystic fibrosis transmembrane conductance regulator

Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.

See Nonsense mutation and Cystic fibrosis transmembrane conductance regulator

Cytosine

Cytosine (symbol C or Cyt) is one of the four nucleobases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA).

See Nonsense mutation and Cytosine

DNA

Deoxyribonucleic acid (DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix.

See Nonsense mutation and DNA

Downregulation and upregulation

In biochemistry, in the biological context of organisms' regulation of gene expression and production of gene products, downregulation is the process by which a cell decreases the production and quantities of its cellular components, such as RNA and proteins, in response to an external stimulus.

See Nonsense mutation and Downregulation and upregulation

Dravet syndrome

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever.

See Nonsense mutation and Dravet syndrome

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys.

See Nonsense mutation and Duchenne muscular dystrophy

Emily's Entourage

Emily's Entourage is a nonprofit organization that raises money and awareness to help find a cure for rare ("nonsense") mutations of cystic fibrosis (CF), a genetic disorder that generally affects a person's lungs and digestive system.

See Nonsense mutation and Emily's Entourage

Eukaryote

The eukaryotes constitute the domain of Eukarya or Eukaryota, organisms whose cells have a membrane-bound nucleus.

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European Economic Area

The European Economic Area (EEA) was established via the Agreement on the European Economic Area, an international agreement which enables the extension of the European Union's single market to member states of the European Free Trade Association (EFTA).

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Fitness (biology)

Fitness (often denoted w or ω in population genetics models) is a quantitative representation of individual reproductive success.

See Nonsense mutation and Fitness (biology)

Gene

In biology, the word gene has two meanings.

See Nonsense mutation and Gene

Genetic code

The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or RNA sequences of nucleotide triplets, or codons) into proteins.

See Nonsense mutation and Genetic code

Genetics

Genetics is the study of genes, genetic variation, and heredity in organisms.

See Nonsense mutation and Genetics

Histidine

Histidine (symbol His or H) is an essential amino acid that is used in the biosynthesis of proteins.

See Nonsense mutation and Histidine

Hurler syndrome

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.

See Nonsense mutation and Hurler syndrome

In vivo

Studies that are in vivo (Latin for "within the living"; often not italicized in English) are those in which the effects of various biological entities are tested on whole, living organisms or cells, usually animals, including humans, and plants, as opposed to a tissue extract or dead organism.

See Nonsense mutation and In vivo

LGR4

Leucine-rich repeat-containing G-protein coupled receptor 4 is a protein that in humans is encoded by the LGR4 gene.

See Nonsense mutation and LGR4

Messenger RNA

In molecular biology, messenger ribonucleic acid (mRNA) is a single-stranded molecule of RNA that corresponds to the genetic sequence of a gene, and is read by a ribosome in the process of synthesizing a protein.

See Nonsense mutation and Messenger RNA

A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates.

See Nonsense mutation and Metabolic disorder

Methionine

Methionine (symbol Met or M) is an essential amino acid in humans.

See Nonsense mutation and Methionine

Missense mRNA

Missense mRNA is a messenger RNA bearing one or more mutated codons that yield polypeptides with an amino acid sequence different from the wild-type or naturally occurring polypeptide.

See Nonsense mutation and Missense mRNA

Missense mutation

In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Nonsense mutation and missense mutation are Modification of genetic information and mutation.

See Nonsense mutation and Missense mutation

Mothers against decapentaplegic homolog 9

Mothers against decapentaplegic homolog 9 also known as SMAD9, SMAD8, and MADH6 is a protein that in humans is encoded by the SMAD9 gene.

See Nonsense mutation and Mothers against decapentaplegic homolog 9

Mutant

In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. Nonsense mutation and mutant are mutation.

See Nonsense mutation and Mutant

Neurological disorder

A neurological disorder is any disorder of the nervous system.

See Nonsense mutation and Neurological disorder

Nonsense suppressor

A nonsense suppressor is a factor which can inhibit the effect of the nonsense mutation.

See Nonsense mutation and Nonsense suppressor

Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that exists in all eukaryotes.

See Nonsense mutation and Nonsense-mediated decay

Nucleic acid sequence

A nucleic acid sequence is a succession of bases within the nucleotides forming alleles within a DNA (using GACT) or RNA (GACU) molecule.

See Nonsense mutation and Nucleic acid sequence

Nucleotide

Nucleotides are organic molecules composed of a nitrogenous base, a pentose sugar and a phosphate.

See Nonsense mutation and Nucleotide

Oligonucleotide

Oligonucleotides are short DNA or RNA molecules, oligomers, that have a wide range of applications in genetic testing, research, and forensics.

See Nonsense mutation and Oligonucleotide

Organism

An organism is defined in a medical dictionary as any living thing that functions as an individual.

See Nonsense mutation and Organism

Osteoblast

Osteoblasts (from the Greek combining forms for "bone", ὀστέο-, osteo- and βλαστάνω, blastanō "germinate") are cells with a single nucleus that synthesize bone.

See Nonsense mutation and Osteoblast

Osteoporosis

Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to more porous bone, and consequent increase in fracture risk.

See Nonsense mutation and Osteoporosis

Oxadiazole

Oxadiazoles are a class of heterocyclic aromatic chemical compound of the azole family; with the molecular formula C2H2N2O.

See Nonsense mutation and Oxadiazole

Pathogenesis

In pathology, pathogenesis is the process by which a disease or disorder develops.

See Nonsense mutation and Pathogenesis

Pathology

Pathology is the study of disease and injury.

See Nonsense mutation and Pathology

Peptide

Peptides are short chains of amino acids linked by peptide bonds.

See Nonsense mutation and Peptide

Phosphorylation

In biochemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion.

See Nonsense mutation and Phosphorylation

Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. Nonsense mutation and point mutation are Modification of genetic information and mutation.

See Nonsense mutation and Point mutation

Protein

Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues.

See Nonsense mutation and Protein

Protein-truncating variants

Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation. Nonsense mutation and Protein-truncating variants are mutation.

See Nonsense mutation and Protein-truncating variants

Pulmonary hypertension

Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the arteries of the lungs.

See Nonsense mutation and Pulmonary hypertension

R-spondin 1

R-spondin-1 is a secreted protein that in humans is encoded by the RSPO1 gene, found on chromosome 1.

See Nonsense mutation and R-spondin 1

Release factor

A release factor is a protein that allows for the termination of translation by recognizing the termination codon or stop codon in an mRNA sequence.

See Nonsense mutation and Release factor

Reproductive success

Reproductive success is an individual's production of offspring per breeding event or lifetime.

See Nonsense mutation and Reproductive success

Ribosome

Ribosomes are macromolecular machines, found within all cells, that perform biological protein synthesis (messenger RNA translation).

See Nonsense mutation and Ribosome

Serine

Serine (symbol Ser or S) is an α-amino acid that is used in the biosynthesis of proteins.

See Nonsense mutation and Serine

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting.

See Nonsense mutation and Spinal muscular atrophy

Stop codon

In molecular biology, a stop codon (or termination codon) is a codon (nucleotide triplet within messenger RNA) that signals the termination of the translation process of the current protein.

See Nonsense mutation and Stop codon

TGF beta signaling pathway

The transforming growth factor beta (TGFB) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, cell migration, apoptosis, cellular homeostasis and other cellular functions.

See Nonsense mutation and TGF beta signaling pathway

Threonine

Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins.

See Nonsense mutation and Threonine

Thymine

---> Thymine (symbol T or Thy) is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G–C–A–T.

See Nonsense mutation and Thymine

Toxin

A toxin is a naturally occurring poison produced by metabolic activities of living cells or organisms.

See Nonsense mutation and Toxin

Transcription (biology)

Transcription is the process of copying a segment of DNA into RNA.

See Nonsense mutation and Transcription (biology)

Transfer RNA

Transfer RNA (abbreviated tRNA and formerly referred to as sRNA, for soluble RNA) is an adaptor molecule composed of RNA, typically 76 to 90 nucleotides in length (in eukaryotes), that serves as the physical link between the mRNA and the amino acid sequence of proteins.

See Nonsense mutation and Transfer RNA

Translation

Translation is the communication of the meaning of a source-language text by means of an equivalent target-language text.

See Nonsense mutation and Translation

Usher syndrome

Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.

See Nonsense mutation and Usher syndrome

References

[1] https://en.wikipedia.org/wiki/Nonsense_mutation

Also known as Codon, nonsense, Nonsense codon, Nonsense mutations, Premature stop codon.

, Phosphorylation, Point mutation, Protein, Protein-truncating variants, Pulmonary hypertension, R-spondin 1, Release factor, Reproductive success, Ribosome, Serine, Spinal muscular atrophy, Stop codon, TGF beta signaling pathway, Threonine, Thymine, Toxin, Transcription (biology), Transfer RNA, Translation, Usher syndrome, Wild type, Wnt signaling pathway, Wobble base pair, Yeast.

Nonsense mutation, the Glossary

Table of Contents

See also

Modification of genetic information

References