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Related Concept Videos

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...
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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
Export of Mitochondrial and Chloroplast Genes02:19

Export of Mitochondrial and Chloroplast Genes

A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred irrespective...

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MitoGEx: An Integrated Platform for Streamlined Human Mitochondrial Genome Analysis.

Kongpop Jeenkeawpiam1,2, Pemikar Srifa1,2, Natakorn Nokchan2

  • 1Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand.

Genes
|March 28, 2026
PubMed
Summary

Mitochondrial Genome Explorer (MitoGEx) simplifies human mitochondrial DNA (mtDNA) analysis with a user-friendly interface. This computational pipeline ensures accurate and accessible insights into human ancestry and mitochondrial diseases.

Keywords:
MitoGExbioinformaticscomputational toolsmitochondrial DNAmitochondrial diseasesmitochondrial genome analysis

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Evolution

Background:

  • Mitochondrial DNA (mtDNA) is crucial for studying human ancestry, population diversity, and mitochondrial diseases.
  • Traditional mtDNA analysis demands advanced bioinformatics expertise and command-line proficiency.
  • A need exists for accessible tools to streamline complex mtDNA data interpretation.

Purpose of the Study:

  • To develop Mitochondrial Genome Explorer (MitoGEx), a user-friendly computational pipeline for human mtDNA analysis.
  • To integrate multiple mtDNA analysis modules into a single graphical user interface.
  • To enhance accessibility and reproducibility in mtDNA research and clinical applications.

Main Methods:

  • MitoGEx offers a graphical user interface simplifying quality control, sequence alignment, variant detection, haplogroup classification, and phylogenetic reconstruction.
  • The platform provides Quick and Advanced modes with default or customizable settings.
  • Analysis of 15 whole-exome sequencing (WES) samples from Songklanagarind Hospital was performed using MitoGEx.

Main Results:

  • Sequencing data exhibited high quality, with over 92% of bases scoring above Phred quality thresholds.
  • MitoGEx identified high-confidence variants using established pipelines (GATK, ANNOVAR, MitImpact).
  • Haplogroup classification and phylogenetic analysis revealed diverse maternal lineages within the cohort.

Conclusions:

  • MitoGEx provides a reproducible and accessible method for human mitochondrial genome analysis.
  • The pipeline's results are concordant with standalone bioinformatics tools, confirming analytical correctness.
  • MitoGEx streamlines the analysis workflow, reducing execution time and minimizing human error.