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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]
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 ...
Nuclear DNA and mitochondrial DNA differ in many ways, starting with location and structure. Nuclear DNA is located within the nucleus of eukaryote cells and usually has two copies per cell while mitochondrial DNA is located in the mitochondria and contains 100–1,000 copies per cell.
The mtDNA from the Denisovan finger bone differs from that of modern humans by 385 bases (nucleotides) in the mtDNA strand out of approximately 16,500, whereas the difference between modern humans and Neanderthals is around 202 bases. In contrast, the difference between chimpanzees and modern humans is approximately 1,462 mtDNA base pairs. [20]
Mitochondrial DNA is replicated by the DNA polymerase gamma complex which is composed of a 140 kDa catalytic DNA polymerase encoded by the POLG gene and two 55 kDa accessory subunits encoded by the POLG2 gene. [31] The replisome machinery is formed by DNA polymerase, TWINKLE and mitochondrial SSB proteins.
DNA polymerase's ability to slide along the DNA template allows increased processivity. There is a dramatic increase in processivity at the replication fork. This increase is facilitated by the DNA polymerase's association with proteins known as the sliding DNA clamp. The clamps are multiple protein subunits associated in the shape of a ring.
Cytonuclear discordance describes the discrepancy in phylogenetic relationships using mitochondrial DNA (mtDNA) versus nuclear genes (or nuclear DNA, nDNA).In other words, mitochondrial and nuclear gene sequences may lead to different, if not contradictory, phylogenetic trees that show the relationships among species.
POLG is located on the q arm of chromosome 15 in position 26.1 and has 23 exons.The POLG gene produces a 140 kDa protein composed of 1239 amino acids. [7] [8] POLG, the protein encoded by this gene, is a member of the DNA polymerase type-A family.