nonsense mutation


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sup·pres·sor mu·ta·tion

1. a second mutation that alters the anticodon in a tRNA so that it can recognize a nonsense (stop) codon, thus suppressing termination of the amino acid chain. Compare: amber mutation, ochre mutation, umber mutation.
2. genetic changes such that the effect of a m. in one place can be masked by a second m. in another location. There are two types: intergenic suppression (occurring in a different gene) and intragenic suppression (occurring in the same gene but at a different site).
Synonym(s): nonsense mutation

nonsense mutation

A POINT MUTATION which changes a CODON that specifies an amino acid into a termination codon-one that marks the position where translation of a messenger RNA sequence should stop. The result is a gene with a segment lopped off. Such a gene will code for a protein that may have missing amino acids and may thus be functionally defective.

nonsense mutation

an alteration in a DNA POLYNUCLEOTIDE CHAIN that results in a NONSENSE CODON when transcribed on to mRNA.
References in periodicals archive ?
In this study, we identified a homozygous nonsense mutation p.S1601* located in exon 22 that encodes for the calmodulin-binding IQ domains that serves as binding site for EF-hand proteins like calmodulin and PKC phosphorylation site (Baudier et al., 1991).
Translarna (ataluren), discovered and developed by PTC Therapeutics, Inc., is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation.
However, in branch B of the family, the two cousins were heterozygous for this large rearrangement and carry a heterozygous nonsense mutation p.[R681* ].
In this study, a novel nonsense mutation (p.K420X) was noticed in MYO7A in the J03 family, which may induce hearing loss by changing the protein structures.
Of the nonsense mutation, c.559G>T; p.G187X in the exon 5 of the SLC26A3 gene was detected.
Beta-thalassernia due to a novel nonsense mutation at codon 37 (TGG[right arrow]TAG) found in an Afghanistani family.
After sequencing all the 18 exons, including the intron-exon boundaries and the promoter, four LDLR mutations were detected in heterozygosis: one nonsense mutation (p.C146X) in exon 4 and three missense mutations, one in exon 3 (p.R57H) and two in exon 17 (p.V806F and p.W789L).
Genotyping of the FUT2 G428A nonsense mutation confirmed secretor-negative genotype of all [Le.sup.a+b-] persons and the secretor-positive genotype of [Le.sup.a-b+] persons.
Investigators are also investigating nonsense suppression, a strategy that attempts to stabilize the ribosome to "read through'" the nonsense mutation that causes premature termination of the translation of the dystrophin gene in up to 15% of patients with DMD, as well as a subset of other MD patients.
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Novel nonsense mutation causes analbuminemia in a Moroccan family.