How do mutations affect gene expression and protein function?

Mutations can alter gene expression and protein function, leading to various consequences.

Mutations can affect gene expression by altering the DNA sequence, which can change the way a gene is transcribed and translated. For example, a mutation in the promoter region of a gene can affect the binding of transcription factors, leading to changes in the rate of transcription. Similarly, mutations in the coding region of a gene can affect the amino acid sequence of the protein, potentially altering its function. Mutations can also affect splicing, leading to alternative splicing patterns that can produce different protein isoforms.

Mutations can also affect protein function by altering the structure or stability of the protein. For example, a missense mutation that changes a single amino acid in a protein can disrupt its folding, leading to misfolded or unstable proteins that may be degraded or accumulate in cells. Mutations can also affect protein-protein interactions, enzyme activity, or other biochemical properties of the protein, leading to altered function.

The consequences of mutations can vary depending on the type and location of the mutation, as well as the context in which it occurs. Some mutations may have no effect on gene expression or protein function, while others can lead to diseases or disorders. Understanding the effects of mutations on gene expression and protein function is important for studying genetics, disease mechanisms, and drug development.