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Concept
Nonsense mutation
Summary
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in leading to a truncated, incomplete, and nonfunctional protein product. Nonsense mutation is not always harmful, the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. 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. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations.
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. Some of the diseases that these mutations can cause are Duchenne muscular dystrophy (DMD), cystic fibrosis (CF), spinal muscular atrophy (SMA), cancers, metabolic diseases, and neurologic disorders. 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.
DNA: 5' - ATG ACT CAC CGA GCG CGA AGC TGA - 3'
3' - TAC TGA GTG GCT CGC GCT TCG ACT - 5'
mRNA: 5' - AUG ACU CAC CGA GCG CGA AGC UGA - 3'
Protein: Met Thr His Arg Ala Arg Ser Stop
The example above begins with a 5' DNA sequence with eight nucleotides seen and its complementary strand shown below. The next row highlights the 5' mRNA strand, which is generated through transcription. Lastly, the final row showcases which the amino acids that are translated from each respective codon, with the eighth and final codon representing the stop codon.
Official source
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