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Core Genetics & Mechanisms

Frameshift Mutation

A genetic alteration caused by the insertion or deletion of nucleotides that shifts the reading frame of a gene's coding sequence. This shift changes the downstream amino acid sequence and often introduces premature stop codons, resulting in truncated or nonfunctional proteins.

Overview

The genetic code is read in triplets—groups of three nucleotides called codons—each specifying a single amino acid. The reading frame is therefore essential for translating a gene into a functional protein. When insertions or deletions occur in multiples not divisible by three, the reading frame shifts, altering every downstream codon.

Frequently Asked Questions

Are frameshift mutations always harmful?

Most frameshift mutations are highly deleterious, resulting in truncated or nonfunctional proteins. In rare cases, they can produce novel functional outcomes.

How do frameshift mutations differ from nonsense mutations?

Nonsense mutations introduce a premature stop codon but preserve the upstream sequence. Frameshift mutations alter the downstream reading frame, usually leading to more severe disruptions in protein function.

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Related Terms

Point Mutation

A single-nucleotide change in a DNA sequence that can modify how a gene is expressed or how its protein product functions. Even a one-base change can dramatically alter phenotype, making point mutations crucial to understanding genetic disease, evolution, and therapeutic intervention.

Missense and Nonsense Mutations

Missense mutations change a single nucleotide in a coding region, resulting in a different amino acid in the protein sequence. Nonsense mutations convert a codon into a premature stop signal, producing truncated and often nonfunctional proteins.

Knockout (KO) Mouse Models

A genetically engineered mouse in which a specific gene has been permanently inactivated ('knocked out') to study its biological function, role in disease, and potential as a therapeutic target.

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Flp-FRT SystemView All TermsGain-of-Function vs. Loss-of-Function Mutations

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