mutation

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Related to Gain-of-function: conditional mutant

mu·ta·tion

 (myo͞o-tā′shən)
n.
1. The act or process of being altered or changed.
2. An alteration or change, as in nature, form, or quality.
3. Genetics
a. A change in the nucleotide sequence of the genome of an organism or virus, sometimes resulting in the appearance of a new character or trait not found in the parental type.
b. The process by which such a change occurs, either through an alteration in the nucleotide sequence coding for a gene or through a change in the physical arrangement of the genetic material.
c. The nucleotide sequence, trait, or individual that results from such a change.
4. Linguistics
a. A change affecting a sound or a class of sounds, such as back vowels or plosive consonants, through assimilation to another sound, as in the process of umlaut.
b. A change affecting a sound or a class of sounds that is conditioned by morphological or syntactic factors rather than purely phonological factors, as in Irish, where certain words cause the lenition of the initial consonants of the following word.

[Middle English mutacioun, from Old French mutacion, from Latin mūtātiō, mūtātiōn-, from past participle of mūtāre, to change; see mutate.]

mu·ta′tion·al adj.
mu·ta′tion·al·ly adv.

mutation

(mjuːˈteɪʃən)
n
1. (Genetics) the act or process of mutating; change; alteration
2. a change or alteration
3. (Genetics) a change in the chromosomes or genes of a cell. When this change occurs in the gametes the structure and development of the resultant offspring may be affected. See also inversion11
4. (Genetics) another word for mutant1
5. (Genetics) a physical characteristic of an individual resulting from this type of chromosomal change
6. (Phonetics & Phonology) phonetics
a. (in Germanic languages) another name for umlaut
b. (in Celtic languages) a phonetic change in certain initial consonants caused by a preceding word
muˈtational adj
muˈtationally adv

mu•ta•tion

(myuˈteɪ ʃən)

n.
1. Biol.
a. a sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or a chromosome.
b. an individual, species, or the like resulting from such a departure.
2. the act or process of changing.
3. a change or alteration, as in form or nature.
4. a change in a speech sound caused by assimilation to a nearby sound, esp. umlaut.
[1325–75; Middle English < Latin]
mu•ta′tion•al, adj.
mu•ta′tion•al•ly, adv.

mu·ta·tion

(myo͞o-tā′shən)
A change in the genes or chromosomes of an organism. Mutations occurring in the reproductive cells, such as an egg or sperm, can be passed from one generation to the next. Most mutations have harmful effects, but some can increase an organism's ability to survive. A mutation that benefits a species may evolve by means of natural selection into a trait shared by all members. See Note at sickle cell anemia.

Mutation

 of thrushes: group of moulting birds.

mutation

1. Inheritable change in a gene‘s DNA.
2. Change in a gene or genes of a living cell. A mutation in some way changes the cell’s characteristics and will be inherited. See chromosome, genes.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.mutation - (biology) an organism that has characteristics resulting from chromosomal alterationmutation - (biology) an organism that has characteristics resulting from chromosomal alteration
organism, being - a living thing that has (or can develop) the ability to act or function independently
biological science, biology - the science that studies living organisms
freak, lusus naturae, monstrosity, monster - a person or animal that is markedly unusual or deformed
2.mutation - (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism
genetic science, genetics - the branch of biology that studies heredity and variation in organisms
alteration, change, modification - an event that occurs when something passes from one state or phase to another; "the change was intended to increase sales"; "this storm is certainly a change for the worse"; "the neighborhood had undergone few modifications since his last visit years ago"
deletion - (genetics) the loss or absence of one or more nucleotides from a chromosome
inversion - (genetics) a kind of mutation in which the order of the genes in a section of a chromosome is reversed
transposition - (genetics) a kind of mutation in which a chromosomal segment is transfered to a new position on the same or another chromosome
mutagenesis - an event capable of causing a mutation
gene mutation, point mutation - (genetics) a mutation due to an intramolecular reorganization of a gene
reversion - (genetics) a return to a normal phenotype (usually resulting from a second mutation)
saltation - (genetics) a mutation that drastically changes the phenotype of an organism or species
3.mutation - a change or alteration in form or qualities
alteration, change, modification - an event that occurs when something passes from one state or phase to another; "the change was intended to increase sales"; "this storm is certainly a change for the worse"; "the neighborhood had undergone few modifications since his last visit years ago"

mutation

noun
1. anomaly, variation, deviant, freak of nature Scientists have found a genetic mutation that causes the disease.
2. change, variation, evolution, transformation, modification, alteration, deviation, metamorphosis, transfiguration I was forced to watch my father's mutation from sober to drunk.

mutation

noun
1. The process or result of making or becoming different:
2. The process or result of changing from one appearance, state, or phase to another:
Translations
mutace
mutation
stökkbreyting
変異突然変異

mutation

[mjuːˈteɪʃən] Nmutación f

mutation

[mjuːˈteɪʃən] nmutation f

mutation

n (= process)Veränderung f; (= result)Variante f; (Biol) → Mutation f; (Ling) → Wandel m(to zu)

mutation

[mjuːˈteɪʃn] nmutazione f

mu·ta·tion

n. mutación, alteración, cambios espontáneos o inducidos en la estructura genética.

mutation

n mutación f; BRCA — mutación BRCA
References in periodicals archive ?
Comprehensive analysis of mature t-cell lymphomas has identified multiple gain-of-function mutations in t-cell receptor (tcr) signaling molecules as an overarching hallmark of t-nhl sub-entities.
Almost 75% of all GISTs present gain-of-function mutations in the KIT gene in exons 11, 9, 13, and 17, which activate downstream pathways (RAS/RAF/MAPK, JAK/STAT3, and PI3K/AKT/mTOR), increasing proliferation or evading apoptosis.
This abnormality causes its activity to remain locked in a hyperactive form, referred to as 'gain-of-function variants' - in effect, causing the protein to always be 'turned-on'.
Charlie was diagnosed with a rare disease known as STAT3 - gain-of-function (GOF) - the same life-threatening condition his sister Lilly, now 13, suffered from.
WHIM syndrome is a primary immunodeficiency disorder characterized by panleukopenia and caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4).
Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.
Horizon's Edit-R CRISPR-Cas9 synthetic crRNA libraries for both knockout (loss-of-function) and activation (gain-of-function) enable whole genome analysis in an arrayed format, allowing researchers to carry out high-content, multiparametric analyses on a one-well-per-gene basis.
To determine the biological function of NEAT1 in cervical cancer, gain-of-function or loss-of-function experiments were performed.
Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal-cerebellar tract atrophy.
XEN901 is a potent, highly selective Nav1.6 sodium channel inhibitor being developed by Xenon for the treatment of epilepsy including treatment resistant adult and pediatric focal seizures, as well as rare, pediatric forms of epilepsy, such as EIEE13, an early infantile epileptic encephalopathy due to gain-of-function mutations in the SCN8A gene that encodes the Nav1.6 sodium channel.
The fact that all three independent mosaic trisomy 9 syndrome cases were accompanied by HPE supports the notion that HPE may be a symptom of this aneuploidy as well as the suggestion by other researchers that gain-of-function mutations of the PTCH1 gene may also cause HPE.