How are new alleles formed by mutation?

Sourav PanNovember 8, 2024

Answered

New alleles are formed through mutations, which are changes in the DNA sequence at a specific locus. These mutations can arise from various mechanisms and can lead to significant genetic diversity within populations. Here’s an overview of how new alleles are formed by mutation:

Mechanisms of Mutation

1. Types of Mutations

Mutations can be classified into several types, each contributing to the formation of new alleles:

• Point Mutations: These involve a change in a single nucleotide base, which can result in:
  • Substitutions: One base is replaced by another, potentially altering the amino acid sequence of a protein (e.g., sickle cell anemia is caused by a single nucleotide substitution).
  • Insertions and Deletions: Extra bases are added or removed from the DNA sequence, which can lead to frameshift mutations that disrupt the reading frame of the gene .
• Large-Scale Mutations: These include duplications, deletions, and rearrangements of larger segments of DNA, potentially resulting in multiple copies of genes or loss of function .

2. Causes of Mutations

Mutations can occur due to various factors:

• Spontaneous Errors: Mistakes during DNA replication can introduce mutations. For example, tautomeric shifts can cause incorrect base pairing.
• Chemical Mutagens: Substances like nitrous acid can chemically modify bases, leading to mutations such as deamination.
• Radiation: Exposure to UV light or ionizing radiation can damage DNA and result in mutations .
• Biological Processes: Recombination during meiosis can also introduce new alleles by mixing genetic material from homologous chromosomes .

Role of Mutation in Allele Formation

1. Introduction of New Alleles

Mutations serve as the ultimate source of genetic variation. When a mutation occurs in a germline cell (sperm or egg), it can be passed on to the next generation, introducing a new allele into the population. The frequency and type of new alleles formed depend on the mutation rate and the population size.

2. Effects on Phenotype

The new alleles created by mutations may have various effects:

• Loss-of-Function Mutations: These alleles may produce nonfunctional proteins (amorphs) or partially functional proteins (hypomorphs), often leading to recessive traits .
• Gain-of-Function Mutations: Some mutations may enhance protein activity (hypermorphs) or create entirely new functions (neomorphs), which are typically dominant traits .

3. Evolutionary Implications

While mutation alone is a weak force for changing allele frequencies over short periods, it is crucial for introducing genetic diversity that natural selection can act upon. Over time, beneficial mutations may become more common in a population through selective pressures