Cited by 1,635Mitochondrial Function and PathologyRNA and protein synthesis mechanismsATP Synthase and ATPases Research

The mitochondrial genome: structure, transcription, translation and replication

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Taanman, Jan-Willem·1999·Biochimica et Biophysica Acta (BBA) - Bioenergetics

Abstract

Mitochondria play a central role in cellular energy provision. The organelles contain their own genome with a modified genetic code. The mammalian mitochondrial genome is transmitted exclusively through the female germ line. The human mitochondrial DNA (mtDNA) is a double-stranded, circular molecule of 16569 bp and contains 37 genes coding for two rRNAs, 22 tRNAs and 13 polypeptides. The mtDNA-encoded polypeptides are all subunits of enzyme complexes of the oxidative phosphorylation system. Mitochondria are not self-supporting entities but rely heavily for their functions on imported nuclear gene products. The basic mechanisms of mitochondrial gene expression have been solved. Cis-acting mtDNA sequences have been characterised by sequence comparisons, mapping studies and mutation analysis both in vitro and in patients harbouring mtDNA mutations. Characterisation of trans-acting factors has proven more difficult but several key enzymes involved in mtDNA replication, transcription and protein synthesis have now been biochemically identified and some have been cloned. These studies revealed that, although some factors may have an additional function elsewhere in the cell, most are unique to mitochondria. It is expected that cell cultures of patients with mitochondrial diseases will increasingly be used to address fundamental questions about mtDNA expression.

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  • mtDNA typically localizes to the inner mitochondrial matrix and encodes 37 genes: 13 mRNAs for oxidative phosphorylation subunits, 2 rRNAs, and 22 tRNAs.

    “Typically located in the inner mitochondrial matrix, mtDNA encodes for 37 genes: 13 mRNAs that are translated into subunits of components of the oxidative phosphorylation system, 2 ribosomal RNAs (rRNA) and 22 transfer RNAs (tRNAs) (Taanman, 1999).”

    From Cytoplasmic DNA: sources, sensing, and role in aging and disease (2021) · cites this paper as Taanman, 1999

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Authors
Taanman, J.-W.
Affiliations
University of London (GB)
Corresponding author
Taanman, Jan-Willem
Venue
Biochimica et Biophysica Acta (BBA) - Bioenergetics
Publisher
Elsevier BV
Published
1999-02
Volume
1410
Issue
2
Pages
103-123
ISSN
0005-2728 (ISSN-L)
OpenAlex
W2038481472
Cited by
1,635
References
220
Citations by year
2026: 57 · 2025: 89 · 2024: 101 · 2023: 132 · 2022: 113 · 2021: 126 · 2020: 89 · 2019: 122 · 2018: 105 · 2017: 92 · 2016: 69 · 2015: 52 · 2014: 57 · 2013: 47 · 2012: 37
FWCI
1.56
Type
journal article
Language
en
Open access
Locations
  • Biochimica et Biophysica Acta (BBA) - Bioenergetics (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
Wellcome Trust (048410)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › ATP Synthase and ATPases Research
Keywords
mitochondrial DNA, mitochondrial genome structure, mitochondrial transcription, mitochondrial translation, mitochondrial DNA replication, oxidative phosphorylation, mitochondrial gene expression, mitochondrial DNA mutations, cis-regulatory elements, trans-acting factors, mitochondrial disease, maternal inheritance, mitochondrial protein import
MeSH terms
Cells, Cultured, DNA Replication, DNA, Mitochondrial, Humans, Transcription, Genetic, Protein Biosynthesis, Molecular Structure

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