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In humans, mitochondrial DNA (mtDNA) forms closed circular molecules that contain 16,569 [4] [5] DNA base pairs, [6] with each such molecule normally containing a full set of the mitochondrial genes. Each human mitochondrion contains, on average, approximately 5 such mtDNA molecules, with the quantity ranging between 1 and 15. [6]
Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas a healthy human sperm has been reported to contain on average 5 molecules), [43] [44] degradation of sperm mtDNA in the male genital tract and in the fertilized egg; and, at least in a few organisms, failure of sperm mtDNA to enter the egg.
Each human cell contains approximately 100 mitochondria, giving a total number of mtDNA molecules per human cell of approximately 500. [35] However, the amount of mitochondria per cell also varies by cell type, and an egg cell can contain 100,000 mitochondria, corresponding to up to 1,500,000 copies of the mitochondrial genome (constituting up ...
The number of mtDNA molecules per mitochondrion varies from species to species, as well as between cells with different energy demands. For example, muscle and liver cells contain more copies of mtDNA per mitochondrion than blood and skin cells do. [ 23 ]
Macro-haplogroup L is the most basal of human mtDNA haplogroups, from which all other haplogroups descend (specifically, from haplogroup L3). It is found mostly in Africa. Haplogroup L0; L1-7 Haplogroup L1; L2-7 L3'4'6 Haplogroup L2
Phylogenetic tree of haplogroups I (left) and W (right). Kya in the left scale bar stands for thousand years ago. This phylogenetic tree of haplogroup W subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [2] and subsequent published research.
These higher levels have shown to be a reliable non-invasive biomarker in the diagnosis and prognosis of many kinds of tumours. [ 2 ] Specific analysis of tumor-derived circulating mitochondrial DNA is challenging in human samples as it requires to track in plasma defined mutations, or alterations from the mitochondrial genome.
Pages in category "Human mtDNA haplogroups" The following 55 pages are in this category, out of 55 total. This list may not reflect recent changes. ...