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Related Concept Videos

Spontaneous and Induced Mutations01:30

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).
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

Mismatch Repair

Overview
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: May 19, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Coding constraints modulate chemically spontaneous mutational replication gradients in mitochondrial genomes.

Hervé Seligmann1

  • 1National Collections of Natural History at the Hebrew University of Jerusalem, Jerusalem 91404; Department of Life Sciences, Ben Gurion University, 84105 Beer Sheva, Israel.

Current Genomics
|September 4, 2012
PubMed
Summary

Mitochondrial DNA replication and transcription create nucleotide gradients, influencing mutation patterns. These gradients, shaped by DNA

Keywords:
FrameshiftRNA synthesisoverlapping genetic codeprotein synthesissecondary structure formationtRNAtranscriptiontranslation.

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Last Updated: May 19, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

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Published on: February 10, 2023

High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution
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Published on: May 5, 2023

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Area of Science:

  • Genomics and Molecular Evolution
  • Biochemistry
  • Bioinformatics

Background:

  • Mitochondrial DNA (mtDNA) replication and transcription involve periods of single-strandedness.
  • Chemical deaminations (A->G, C->T) occur more readily in single-stranded DNA.
  • Nucleotide composition varies across mtDNA genomes, particularly at codon positions.

Purpose of the Study:

  • To investigate the relationship between DNA single-strandedness, deamination, and nucleotide gradients in mitochondrial genomes.
  • To determine whether replicational or transcriptional processes primarily shape these gradients in humans.
  • To explore the functional implications of these gradients on protein synthesis and mutation patterns.

Main Methods:

  • Analysis of nucleotide composition across human mitochondrial genomes.
  • Comparison of nucleotide gradients with known replication and transcription patterns.
  • Examination of synonymous codon transitions and their potential impact on protein sequence.

Main Results:

  • Replicational nucleotide gradients are observed in mitochondrial genomes, with distinct patterns at different codon positions.
  • In humans, third codon position nucleotide content aligns with replicational, not transcriptional, gradients.
  • Synonymous mutations at third codon positions can alter protein information and are influenced by deamination gradients and error compensation mechanisms.

Conclusions:

  • DNA single-strandedness during replication and transcription drives nucleotide gradients in mitochondrial genomes.
  • Functional constraints, including overlapping genes and translational accuracy, modulate these deamination gradients.
  • Understanding these gradients is crucial for interpreting mutation patterns and their evolutionary consequences.