Mitochondrial DNA
Mitochondrial DNA is a small, maternally inherited genome essential for energy conversion.
Mitochondrial DNA (mtDNA) is the DNA located in the mitochondria organelles in a eukaryotic cell that converts chemical energy from organic compounds into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the DNA contained in a eukaryotic cell; most of the DNA is in the cell nucleus, and, in plants and algae, the DNA also is found in plastids, such as chloroplasts. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that human mtDNA has 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology. It also permits tracing the relationships of populations, and so has become important in anthropology and biogeography.
- type
- Genetic material
- location
- Mitochondria in eukaryotic cells
- size_human
- 16,569 base pairs
- genes_human
- 37 genes (13 proteins, 22 tRNAs, 2 rRNAs)
- origin_theory
- Endosymbiotic theory (derived from bacterial genomes)
- key_function
- Coding 13 subunits of oxidative phosphorylation (OXPHOS) system
Lore & Background
Nuclear and mitochondrial DNA are thought to have separate evolutionary origins, with the mtDNA derived from the circular genomes of bacteria engulfed by the ancestors of modern eukaryotic cells. This theory is called the endosymbiotic theory. In the cells of extant organisms, the vast majority of the proteins in the mitochondria (numbering approximately 1500 different types in mammals) are coded by nuclear DNA, but the genes for some, if not most, of them are thought to be of bacterial origin, having been transferred to the eukaryotic nucleus during evolution. The reasons mitochondria have retained some genes are debated. The existence in some species of mitochondrion-derived organelles lacking a genome suggests that complete gene loss is possible, and transferring mitochondrial genes to the nucleus has several advantages. The difficulty of targeting remotely produced hydrophobic protein products to the mitochondrion is one hypothesis for why some genes are retained in mtDNA; colocalisation for redox regulation is another, citing the desirability of localised control over mitochondrial machinery. Recent analysis of a wide range of mtDNA genomes suggests that both these features may dictate mitochondrial gene retention.
Reader's Guide
Across all organisms, there are six main mitochondrial genome types, classified by structure (circular versus linear), size, presence of introns or plasmid like structures, and whether the genetic material is a singular molecule or collection of homogeneous or heterogeneous molecules. Most (bilaterian) animals have a circular mitochondrial genome. With a few exceptions, animals have 37 genes in their mitochondrial DNA: 13 for proteins, 22 for tRNAs, and 2 for rRNAs. Mitochondrial genomes for animals average about 16,000 base pairs in length. The anemone Isarachnanthus nocturnus has the largest mitochondrial genome of any animal at 80,923 bp. The smallest known mitochondrial genome in animals belongs to the comb jelly Vallicula multiformis, which consist of 9,961 bp. In February 2020, a jellyfish-related parasite – Henneguya salminicola – was discovered that lacks a mitochondrial genome but retains structures deemed mitochondrion-related organelles. This is the first multicellular organism known to have this absence of aerobic respiration and live completely free of oxygen dependency. The Armadillidium vulgare has a uniquely large genome when compared to other crustacean average about 30 kB greater allowing it to be a model organism in mtDNA research. There are three different mitochondrial genome types in plants and fungi. Some plant species have enormous mitochondrial genomes, with Silene conica mtDNA containing as many as 11,300,000 base pairs. The genome of the mitochondrion of the cucumber (Cucumis sativus) consists of three circular chromosomes (lengths 1556, 84 and 45 kilobases), which are entirely or largely autonomous with regard to their replication. Protists contain the most diverse mitochondrial genomes, with five different types found in this kingdom. The smallest mitochondrial genome sequenced to date is the 5,967 bp mtDNA of the parasite Plasmodium falciparum.
Did You Know?
- Human mitochondrial DNA was the first significant part of the human genome to be sequenced.
- The anemone Isarachnanthus nocturnus has the largest mitochondrial genome of any animal at 80,923 base pairs.
- In February 2020, a jellyfish-related parasite – Henneguya salminicola – was discovered that lacks a mitochondrial genome and lives completely free of oxygen dependency.
- The smallest mitochondrial genome sequenced to date is the 5,967 bp mtDNA of the parasite Plasmodium falciparum.
- The cucumber (Cucumis sativus) mitochondrial genome consists of three circular chromosomes, lengths 1556, 84 and 45 kilobases.
Frequently Asked Questions
Who is Mitochondrial DNA?
mtDNA is a compact, circular genetic package tucked inside the mitochondria of eukaryotic cells. In humans it stretches to just 16,569 base pairs and carries 37 genes, making it a tiny sliver of the cell's total genetic material compared to the much larger nuclear genome.
What are Mitochondrial DNA's powers/role?
Its signature ability is encoding 13 protein subunits that drive the oxidative phosphorylation system, the organelle's main engine for converting chemical energy into ATP. It also supplies 22 tRNAs and 2 rRNAs that the mitochondrial translation machinery needs to build those proteins in-house.
Where does Mitochondrial DNA come from?
The endosymbiotic theory holds that mtDNA is a surviving fragment of an ancient free-living bacterium swallowed by a primitive host cell billions of years ago. Over evolutionary time most of that bacterial genome was lost or relocated to the nucleus, leaving only this small circular remnant behind.
Why is Mitochondrial DNA important?
Because it is inherited almost exclusively from the mother and evolves faster than nuclear markers, it has become a go-to tool in phylogenetics, anthropology, and evolutionary biology for tracing maternal lineages. It also holds the distinction of being the first major segment of the human genome to be fully sequenced.
How does Mitochondrial DNA's story end?
On a deep evolutionary timescale, mtDNA's arc has been one of steady gene loss, with ancestral bacterial genes progressively shed or handed off to the nuclear genome. In individual cells, accumulated point mutations and deletions in mtDNA contribute to aging and metabolic disease, yet the molecule persists for as long as the mitochondria remain functional.
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