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Mitochondrial Genetics
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Mitochondrial DNA (mtDNA) Location
Mitochondrial DNA is located within the mitochondria, as opposed to nuclear DNA which is found in the cell's nucleus. Inheritance of mtDNA is maternal, meaning it is passed down from mother to offspring without recombination.
Mitochondrial Genome Size
The mitochondrial genome is relatively small, totaling about 16,569 base pairs in humans, which is much smaller than the nuclear genome. It shows maternal inheritance.
Maternal Inheritance
Mitochondrial DNA is inherited exclusively from the mother, with no paternal mtDNA contributed at fertilization. This is because sperm mitochondria are typically lost during fertilization.
Mitochondrial Diseases
Diseases caused by mutations in mtDNA can be inherited maternally. Examples include Leber's hereditary optic neuropathy and mitochondrial myopathy. Because all mitochondria are inherited from the mother, all offspring of an affected female may show symptoms of the disease.
Homoplasmy and Heteroplasmy
Homoplasmy refers to the presence of only one type of mtDNA within a cell, while heteroplasmy refers to the presence of different mtDNAs within a cell. Heteroplasmy can result in variable expression of mitochondrial diseases.
Mitochondrial DNA Replication
Mitochondrial DNA replicates independently of the cell cycle, and it uses a different enzyme, DNA polymerase gamma. Maternal inheritance means that mutations in mtDNA during replication are passed from mother to offspring.
mtDNA Mutation Rate
The mutation rate of mitochondrial DNA is higher than that of nuclear DNA, possibly due to its proximity to reactive oxygen species produced during ATP synthesis. Maternally inherited mutations can accumulate over generations.
Mitochondrial Eve
Mitochondrial Eve refers to the most recent common matrilineal ancestor of all humans alive today, inferred from mitochondrial DNA studies. She represents the 'root' of the human maternal lineage tree.
Endosymbiotic Theory
The endosymbiotic theory posits that mitochondria originated from free-living bacteria that were engulfed by early eukaryotic cells. This symbiotic relationship evolved into the mitochondria we see today, which have their own DNA.
Mitochondrial Ribosomes
Mitochondrial ribosomes, or mitoribosomes, are specialized for the synthesis of proteins encoded by mitochondrial DNA. They are more similar to bacterial ribosomes than to cytoplasmic ribosomes of eukaryotes, consistent with maternal inheritance.
mtDNA Circular Structure
Mitochondrial DNA is circular, resembling bacterial genomes, which supports the endosymbiotic theory. This circular structure is maintained independently of nuclear DNA and is maternally inherited.
Control Region (D-loop) of mtDNA
The D-loop is a non-coding region of the mitochondrial DNA that contains origins of replication and promoters for transcription. It plays a key role in controlling mtDNA replication and is passed down maternally.
Haplogroups in Mitochondrial DNA
Haplogroups are groups of similar haplotypes that are often used to study human migrations and ancestries. Mitochondrial DNA haplogroups are passed maternally and can trace maternal lineage and migration patterns.
mtDNA and Phylogenetics
Mitochondrial DNA is frequently used in phylogenetic studies because of its high mutation rate and strictly maternal inheritance pattern, which allows scientists to trace evolutionary relationships and species divergence.
mtDNA and Forensic Science
Mitochondrial DNA is useful in forensic science due to its high copy number per cell, which makes it more likely to be recovered from degraded samples than nuclear DNA. Its maternal inheritance pattern helps trace maternal lineage.
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