Mitochondrial DNA (mtDNA) is the DNA located in organelles called mitochondria. Most other DNA present in eukaryotic organisms is found in the nucleus. Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived from the circular genomes of the bacteria that were engulfed by the early ancestors of today's eukaryotic cells. In the cells of current organisms, the vast majority of the proteins present in the mitochondria (numbering approximately 1500 different types in mammals) are coded for by nuclear DNA, but the genes for some of them, if not most, are thought to have originally been of bacterial origin, having since been transferred to the eukaryotic nucleus during evolution. In mammals, all mtDNA in a zygote is inherited solely from the mother, and this holds true for most other organisms as well.
Currently, human mtDNA is present at 100-10,000 separate copies per cell, with each circular molecule consisting of 16,569 base pairs with 37 genes, 13 proteins (polypeptides), 22 transfer RNA (tRNAs) and two ribosomal RNAs (rRNAs).
Contents [hide]
1 Use in identification
2 Origin of mitochondrial DNA
3 Mitochondrial inheritance
3.1 Female inheritance
3.2 Male inheritance
4 Genetic influence
4.1 Genetic illness
5 See also
6 References
7 External links
[edit] Use in identification
Unlike nuclear DNA, whose genes are rearranged in the process of recombination, there is usually no change in mtDNA from parent to offspring. Because of this, and the fact that the mutation rate of mtDNA is higher than that of nuclear DNA and is easily measured, mtDNA is a powerful tool for tracking matrilineage, and has been used in this role for tracking the ancestry of many species back hundreds of generations. Human mtDNA can also be used to identify individuals.
[edit] Origin of mitochondrial DNA
Endosymbiotic theory suggests that eukaryotic cells first appeared when a prokaryotic cell (a bacterium) was absorbed into another cell without being digested. These two cells are thought to have then entered into a symbiotic relationship forming the first organelle. This organelle would eventually become today's mitochondrion, and the genome of that first absorbed bacterium would have given rise to today's mitochondrial DNA as evolution progressed.
[edit] Mitochondrial inheritance
[edit] Female inheritance
Mitochondria are normally inherited exclusively from the mother. The mitochondria in mammalian sperm are usually destroyed by the egg cell after fertilization.Also, most mitochondria are present at the base of the sperms tail, used for propelling the sperm cells, and this tail is lost during fertilization. In 1999 it was reported that paternal sperm mitochondria (containing mtDNA) are marked with ubiquitin to select them for later destruction inside the embryo.[1] Some in vitro fertilization techniques, particularly injecting a sperm into an oocyte, may interfere with this.
The fact that mitochondrial DNA is maternally inherited enables researchers to trace maternal lineage far back in time. (Y chromosomal DNA, paternally inherited, is used in an analogous way to trace the agnate lineage.) This is accomplished in humans by sequencing one or more of the hypervariable control regions (HVR1 or HVR2) of the mitochondrial DNA. HVR1 consists of about 440 base pairs. These 440 base pairs are then compared to the control regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. Most often, the comparison is made to the revised. Vilà et al have published studies tracing the matrilineal descent of domestic dogs to wolves. The concept of the Mitochondrial Eve is based on the same type of analysis, attempting to discover the origin of humanity by tracking the lineage back in time.
Because mtDNA is not highly conserved, and has a rapid mutation rate, it can be used in phylogenetic study. Biologists sequence a few selected genes across different species, and they can build an evolutionary tree depending on how conserved or divergent the sequences happen to be.
[edit] Male inheritance
It has been reported that mitochondria can occasionally be inherited from the father [2] in some species such as mussels. Paternally inherited mitochondria have also been reported in some insects such as the fruit fly[2] and the honeybee.[3]
Evidence supports rare instances of male mitochondrial inheritance in some mammals as well. Specifically, documented occurrences exist for mice,[4][5] where it was subsequently rejected. It has also been found in sheep,[6]and in cloned cattle. [7] It has been found in a single case in a, human, male and was linked to infertility[8]
While many of these cases involve cloned embryos or subsequent rejection of the paternal mitochondria, others document in vivo inheritance and persistence under lab conditions.
[edit] Genetic influence
[edit] Genetic illness
Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome (KSS), which causes a person to lose full function of their heart, eye, and muscle movements. (See also Mitochondrial disease).
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