mutation

(redirected from Loss-of-function)
Also found in: Thesaurus, Medical, Legal, Encyclopedia.

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.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

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
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

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.
Random House Kernerman Webster's College Dictionary, © 2010 K Dictionaries Ltd. Copyright 2005, 1997, 1991 by Random House, Inc. All rights reserved.

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.
The American Heritage® Student Science Dictionary, Second Edition. Copyright © 2014 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

Mutation

 of thrushes: group of moulting birds.
Dictionary of Collective Nouns and Group Terms. Copyright 2008 The Gale Group, Inc. All rights reserved.

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.
Dictionary of Unfamiliar Words by Diagram Group Copyright © 2008 by Diagram Visual Information Limited
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"
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.

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.
Collins Thesaurus of the English Language – Complete and Unabridged 2nd Edition. 2002 © HarperCollins Publishers 1995, 2002

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:
The American Heritage® Roget's Thesaurus. Copyright © 2013, 2014 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
Translations
mutace
mutation
stökkbreyting
変異突然変異

mutation

[mjuːˈteɪʃən] Nmutación f
Collins Spanish Dictionary - Complete and Unabridged 8th Edition 2005 © William Collins Sons & Co. Ltd. 1971, 1988 © HarperCollins Publishers 1992, 1993, 1996, 1997, 2000, 2003, 2005

mutation

[mjuːˈteɪʃən] nmutation f
Collins English/French Electronic Resource. © HarperCollins Publishers 2005

mutation

n (= process)Veränderung f; (= result)Variante f; (Biol) → Mutation f; (Ling) → Wandel m(to zu)
Collins German Dictionary – Complete and Unabridged 7th Edition 2005. © William Collins Sons & Co. Ltd. 1980 © HarperCollins Publishers 1991, 1997, 1999, 2004, 2005, 2007

mutation

[mjuːˈteɪʃn] nmutazione f
Collins Italian Dictionary 1st Edition © HarperCollins Publishers 1995

mu·ta·tion

n. mutación, alteración, cambios espontáneos o inducidos en la estructura genética.
English-Spanish Medical Dictionary © Farlex 2012

mutation

n mutación f; BRCA — mutación BRCA
English-Spanish/Spanish-English Medical Dictionary Copyright © 2006 by The McGraw-Hill Companies, Inc. All rights reserved.
References in periodicals archive ?
The team identified loss-of-function mutations that were both rare (affecting less than 1 percent of the cohort) and biallelic (affecting both copies of the gene) in 266 people with autism.
He told that the research reports of our faculty members have already been published in prominent international research journals were included on the topic of Biallelic loss-of-function variants in DNMBP cause infantile cataract and In-frame deletion of human ESPN is associated with deafness vesttibulopathy and vision impairment by Dr.
Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.
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.
In addition, both the gain- and loss-of-function have been proposed as the underlying molecular mechanism in this channelopathy resulting in increased excitability (4).
Epizyme announced the first detailed results from the Phase 2 study of its lead candidate tazemetostat, a potent, selective, orally available EZH2 inhibitor, in relapsed/refractory malignant mesothelioma patients with BRCA1-associated protein 1 loss-of-function. The primary endpoint was met with 51% of patients having achieved disease control at 12 weeks, exceeding the pre-specified disease control rate threshold of greater than or equal to 35%.
Among loss-of-function (LOF) allele carriers, alternative DAPT was prescribed in 70.7 percent of patients.
Study's lead author Kasper Hoebe, PhD, Division of Immunobiology, said, "Our data suggest GSK3 inhibitors will improve T cell survival and function and may prevent or correct immune-related disorders in people with Gimap5 loss-of-function mutations.
BSCL type 2, classified as one of the most dangerous of lipodystrophies, is a recessive disease caused by loss-of-function mutations, characterized by a severe adipose tissue disorder that might affect cognition-related nervous tissue regions [20, 64, 65].
This clinically distinguishable recessive syndrome consists of cerebellar atrophy, ataxia, coarsened facial features, and intellectual disability and is due to loss-of-function mutations in the sorting nexin 14 gene.
Loss-of-function mutations in these genes cause hyperinsulinism by leading to a loss of K-ATP channels at the plasma membrane via effects on gene expression, protein synthesis, protein maturation, or membrane trafficking or by impairing the ability of SUR1 to regulate channel activity (2,3).