Kinds of dna mutations
Pro Research Analysisby 
Searched over 200M research papers
Types of DNA Mutations
DNA mutations are alterations in the genetic material that can have significant biological consequences. These mutations can be categorized into several types based on their nature and the mechanisms by which they occur. Here, we explore the primary types of DNA mutations, including single nucleotide variants (SNVs), insertions and deletions (indels), frameshift mutations, and mitochondrial DNA mutations.
Single Nucleotide Variants (SNVs)
Single nucleotide variants (SNVs) are the most common type of DNA mutation, involving a change of a single nucleotide base in the DNA sequence. These mutations can occur spontaneously during DNA replication or due to environmental factors. SNVs can be further classified into transitions (purine to purine or pyrimidine to pyrimidine) and transversions (purine to pyrimidine or vice versa)1. SNVs are often studied in the context of their mutation rates and their role in genetic variation and disease1.
Insertions and Deletions (Indels)
Insertions and deletions (indels) involve the addition or removal of small segments of DNA. These mutations can range from a single nucleotide to several base pairs. Indels can disrupt the reading frame of a gene, leading to frameshift mutations, which can significantly alter protein function1. Indels are less common than SNVs but can have profound effects on gene expression and phenotype1.
Frameshift Mutations
Frameshift mutations occur when insertions or deletions change the reading frame of a gene. This type of mutation shifts the grouping of the codons, leading to the production of an entirely different sequence of amino acids from the point of mutation onward. Frameshift mutations often result in nonfunctional proteins and can cause severe genetic disorders5 9.
Clustered Mutations
Clustered mutations are nonrandom mutations that occur in close proximity within the genome. These mutations can arise from damaged long single-strand DNA regions, such as those formed at double-strand breaks or replication forks. Clustered mutations are often seen in yeast and human cancers and can involve multiple simultaneous changes in the DNA sequence3. These mutations are typically strand-coordinated, affecting either cytosines or guanines on the same strand3.
Mitochondrial DNA Mutations
Mitochondrial DNA (mtDNA) mutations are changes in the DNA of mitochondria, the energy-producing organelles in cells. These mutations can be inherited or occur somatically and are often associated with various types of cancer. Mitochondrial mutations can lead to a state called heteroplasmy, where both wild-type and mutant mtDNA coexist within a cell. The proportion of mutant mtDNA can influence the severity of the phenotype6 8. MtDNA mutations play a crucial role in cancer development and progression, affecting mitochondrial function and cellular metabolism6 8.
Structural Variants (SVs)
Structural variants (SVs) are large-scale alterations in the genome that can involve duplications, deletions, inversions, or translocations of large DNA segments. These mutations can disrupt gene function and regulatory regions, leading to various genetic disorders and diseases. The local DNA sequence environment and genomic architecture often influence the occurrence and nature of SVs4.
Conclusion
DNA mutations are diverse and can have significant impacts on genetic function and disease. Understanding the different types of mutations, including SNVs, indels, frameshift mutations, clustered mutations, mitochondrial DNA mutations, and structural variants, is crucial for studying genetic variation and the mechanisms underlying various genetic disorders and cancers. Each type of mutation has unique characteristics and consequences, highlighting the complexity of genetic regulation and the importance of ongoing research in this field.
Sources and full results
Most relevant research papers on this topic
Multi-nucleotide de novo Mutations in Humans
Human DNA mutation rates are higher in late replicating regions and near recombination events, with 3% of de novo SNVs being part of multi-nucleotide mutations.
Highly CitedGenetic and phenotypic characterization of dnaC mutations
The dnaC mutations in E. coli cause abrupt cessation of deoxyribonucleic acid synthesis at 42 C, suggesting a possible defect in chain elongation rather than initiation.
Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions.
Clustered mutations in yeast and human cancers are caused by simultaneous changes in randomly formed single-strand DNA, potentially contributing to rapid genetic variation.
Highly CitedOn the sequence‐directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
Human gene mutations causing inherited diseases are shaped by the local DNA sequence environment and can be influenced indirectly by non-canonical secondary structures.
Highly CitedCreation of Three‐Dimensional Pedagogical Models of Genetic Mutations
3D printed pedagogical models of genetic mutations are a strong and effective teaching tool for teaching the three main types of DNA mutations.
Rigorous JournalMitochondrial DNA mutations in human cancer
Somatic mitochondrial DNA mutations play a crucial role in human cancer development, with potential diagnostic and therapeutic implications.
Highly CitedNomenclature for the description of human sequence variations
The current nomenclature system for describing human sequence variations is largely accepted, but does not yet cover all types of mutations and more complex changes.
Highly CitedMitochondrial DNA variation and cancer
Mitochondrial DNA variation can contribute to certain cancers, with de novo mutations acting as carcinogenesis inducers and functional variants allowing cancer cells to thrive in different environments.
Highly CitedThe mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations.
DNA polymerase-beta produces a wide variety of mutations, including frameshift and base substitution errors, and can produce large deletions at a frequency 10-fold over background.
In Vitro StudyHighly CitedExonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication
POLE-exo* mutations in cancers lead to high mutation frequencies and strand-specific replication, providing a unique identifier for eukaryotic origins of replication.
In Vitro StudyHighly Cited