Frameshift Mutations and Their Impact on Gene Expression
Frameshift mutations are a type of genetic alteration that can have significant consequences on protein expression and function. This page provides an overview of different types of mutations, their causes, and their effects on gene expression and protein synthesis.
Definition: A mutation is a change in the genome (entire DNA), which can be very serious and often fatal.
Mutations can be categorized into chromosome mutations and single gene mutations. Chromosome mutations can result in no protein being expressed or altered protein expression.
Highlight: Frameshift mutations impact on amino acid sequence by affecting every codon after the point of mutation. This occurs because nucleotides are either pushed along one space (insertion) or pulled back one space (deletion).
Causes of mutations include:
- Random or spontaneous occurrences
- Environmental factors such as X-rays, UV light, and mustard gas, which can increase the risk of mutations
Single gene mutations can be further classified into:
- Deletion: Removal of nucleotides from DNA
- Insertion: Addition of nucleotides to DNA
- Substitution: Change in nucleotides in DNA (also known as point mutations)
Example: A frameshift mutation example could be the deletion of a single nucleotide in a gene, causing all subsequent codons to be misread during protein synthesis.
These mutations can be further categorized into:
- Missense mutations: One amino acid codon is replaced with another
- Nonsense mutations: A substitution codes for a premature stop codon instead of an amino acid
- Splice site mutations: An intron is left in the mature mRNA transcript, or an exon is not included
Vocabulary: Gene expression refers to the process by which information from a gene is used to synthesize a functional gene product, usually a protein.
The effects of these mutations on protein function can vary:
- Missense mutations may result in a non-functional protein or have little effect
- Nonsense mutations typically lead to non-functional proteins
- Splice site mutations result in altered proteins that would not function normally
Highlight: Understanding the effects of frameshift mutation is crucial in comprehending genetic disorders and evolutionary processes.
Chromosome mutations include:
- Deletion: Loss of a chromosome segment
- Duplication: A section of chromosome is inadvertently copied twice during DNA replication
- Inversion: A section of chromosome is turned around, reversing the normal gene sequence
- Translocation: A deleted section of one chromosome is inadvertently attached to a different, non-homologous chromosome
Example: A frameshift mutation example disease could be cystic fibrosis, which can be caused by a deletion of three nucleotides in the CFTR gene.
Mutations have evolutionary importance as they are the only source of new alleles. In some cases, when genes are accidentally duplicated, a beneficial mutation can be created while the original gene continues to function normally.
Highlight: Why is gene expression important? It's crucial for understanding how genetic information is translated into functional proteins, which are essential for all biological processes.