Nonsense mutation
Type of mutation in a DNA sequence / From Wikipedia, the free encyclopedia
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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] Nonsense mutations are not always harmful;[2] the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA.[2] For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected.[3] As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations.[4]
Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to cause substitution of a different amino acid. A nonsense mutation also differs from a nonstop mutation, which is a point mutation that removes a stop codon. About 10% of patients facing genetic diseases have involvement with nonsense mutations.[5] Some of the diseases that these mutations can cause are Duchenne muscular dystrophy (DMD), cystic fibrosis (CF),[6] spinal muscular atrophy (SMA), cancers, metabolic diseases, and neurologic disorders.[5][7] The rate of nonsense mutations is variable from gene-to-gene and tissue-to-tissue, but gene silencing occurs in every patient with a nonsense mutation.[5]