Suppressor mutation
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Suppressor Mutation
A suppressor mutation is a genetic mutation that counteracts the effects of another mutation. This type of mutation can restore the original phenotype by compensating for the defect caused by the initial mutation. Suppressor mutations can occur within the same gene as the original mutation (intragenic suppression) or in a different gene (extragenic suppression).
Types of Suppressor Mutations
Intragenic Suppression
Intragenic suppressor mutations occur within the same gene as the original mutation. These mutations can restore the function of the protein by altering the amino acid sequence in a way that compensates for the defect caused by the original mutation. For example, a second mutation might restore the reading frame in a gene affected by a frameshift mutation.
Extragenic Suppression
Extragenic suppressor mutations occur in a different gene than the one containing the original mutation. These mutations can restore the phenotype by affecting a different protein that interacts with the protein affected by the original mutation. For instance, a mutation in a tRNA gene that allows it to recognize a stop codon as a sense codon can suppress a nonsense mutation in another gene.
Mechanisms of Suppression
Suppressor mutations can operate through various mechanisms, including:
- Compensatory changes in protein structure: Alterations in the protein structure that restore function.
- Changes in gene expression: Modifications in the expression levels of genes that compensate for the defective protein.
- Alterations in metabolic pathways: Adjustments in metabolic pathways that bypass the block caused by the original mutation.
Importance in Genetic Research
Suppressor mutations are valuable tools in genetic research. They can help identify interactions between proteins and pathways, elucidate the function of genes, and provide insights into the mechanisms of genetic diseases. By studying suppressor mutations, researchers can better understand the complexity of genetic networks and the robustness of biological systems.
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Contributors: Prab R. Tumpati, MD