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The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell. Mitochondrial DNA (mtDNA) is not transmitted through nuclear DNA (nDNA). In humans, as in most ...
Human mitochondrial DNA was the first significant part of the human genome to be sequenced. [4] This sequencing revealed that human mtDNA has 16,569 base pairs and encodes 13 proteins. As in other vertebrates, the human mitochondrial genetic code differs slightly from nuclear DNA. [5]
When mitochondrial DNA sequencing is used for genealogical purposes, the results are often reported as differences from the revised CRS. The CRS is a reference sequence rather than a record of the earliest human mtDNA. A difference between a tested sample and the CRS may have arisen in the lineage of the CRS or in the lineage of the tested sample.
(b) Counts of haplogroups in table format. For populations details, see 1000 Genomes Project#Human genome samples. In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree.
Mitochondrial biogenesis is the process by which cells increase mitochondrial numbers. [ 1 ] [ 2 ] It was first described by John Holloszy in the 1960s, when it was discovered that physical endurance training induced higher mitochondrial content levels, leading to greater glucose uptake by muscles. [ 3 ]
In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically modern human (Homo sapiens) mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed "Mitochondrial Eve". Its two sub-clades are L1-6 and L0.
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The mtDNA control region is an area of the mitochondrial genome which is non-coding DNA. This region controls RNA and DNA synthesis. [1] It is the most polymorphic region of the human mtDNA genome, [2] with polymorphism concentrated in hypervariable regions. The average nucleotide diversity in these regions is 1.7%. [3]