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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Nucleotide Excision Repair

Nucleotide Excision Repair

Spontaneous and Induced Mutations

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

Genetic Lingo

Genetic Lingo

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Related Experiment Video

Updated: Apr 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

Human PrimPol mutation associated with high myopia has a DNA replication defect.

Benjamin A Keen¹, Laura J Bailey¹, Stanislaw K Jozwiakowski¹

¹Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton BN1 9RQ, UK.

Nucleic Acids Research

|September 29, 2014

Summary

A mutation in human PrimPol (PrimPolY89D) significantly impairs DNA replication activities, reducing cell viability and slowing fork rates. This defect is linked to the development of high myopia.

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Area of Science:

Molecular Biology
Genetics
Ophthalmology

Background:

PrimPol is a human enzyme crucial for DNA replication, particularly in bypassing DNA lesions.
A specific mutation, PrimPolY89D, is associated with high myopia.
The functional impact of PrimPolY89D on DNA replication and its role in myopia etiology require investigation.

Purpose of the Study:

To investigate the molecular and cellular consequences of the PrimPolY89D mutation.
To determine how this mutation affects PrimPol's enzymatic activities and DNA binding.
To assess the in vivo implications of PrimPolY89D for DNA replication and cell viability.

Main Methods:

Biochemical assays to measure primase and polymerase activities.
DNA and nucleotide binding affinity studies.
Cell viability assays post-DNA damage.
In vivo replication fork rate measurements.

Main Results:

PrimPolY89D exhibits significantly reduced primase and polymerase activities compared to wild-type.
The mutation decreases DNA and nucleotide binding affinities, lowering catalytic efficiency.
PrimPolY89D alters protein structure and stability but not fidelity.
The mutant reduces cell viability after DNA damage and slows replication fork progression in vivo.

Conclusions:

The PrimPolY89D mutation impairs critical DNA replication functions.
Reduced enzymatic activity and impaired DNA replication are linked to the onset of high myopia.
This study establishes a direct molecular link between PrimPol function and myopia development.