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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 ]
Human mitochondrial genome showing hypervariable regions I to III (green boxes) located in the control region (CR; grey box). There are two mitochondrial hypervariable regions used in human mitochondrial genealogical DNA testing. HVR1 is considered a "low resolution" region and HVR2 is considered a "high resolution" region.
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]
NUMT insertion into the nuclear genome and its persistence in the nuclear genome is initiated by the physical delivery of mitochondrial DNA to the nucleus. [5] This step follows by the mtDNA integration into the genome through a non-homologous end joining mechanism during the double-strand break (DSB) repair process as envisioned by studying Saccharomyces cerevisiae, [13] [29] and terminates ...
This distance assumes that genetic differences arise due to mutation and genetic drift, but this distance measure is known to give more reliable population trees than other distances particularly for microsatellite DNA data. This method is not ideal in cases where natural selection plays a significant role in a populations genetics.
Estimates of the mutation rate of human mitochondrial DNA (mtDNA) vary greatly depending on the available data and the method used for estimation. The two main methods of estimation, phylogeny-based methods and pedigree-based methods, have produced mutation rates that differ by almost an order of magnitude .
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]
The most commonly studied human haplogroups are Y-chromosome (Y-DNA) haplogroups and mitochondrial DNA (mtDNA) haplogroups, both of which can be used to define genetic populations. Y-DNA is passed solely along the patrilineal line, from father to son, while mtDNA is passed down the matrilineal line, from mother to both daughter or son. The Y ...