Mitochondrial Dna (Mtdna or Mdna)

Mitochondrial DNA
Mitochondrial DNA (mtDNA or mDNA)[3] is the

DNA located in mitochondria, cellular organelles
within eukaryotic cells that convert chemical energy
from food into a form that cells can use, adenosine
triphosphate (ATP). Mitochondrial DNA is only a
small portion of the DNA in a eukaryotic cell; most
of the DNA can be found in the cell nucleus and, in
plants and algae, also in plastids such as chloroplasts.
Human mitochondrial DNA was the first significant

part of the human genome to be sequenced.[4] This
sequencing revealed that the human mtDNA includes
16,569 base pairs and encodes 13 proteins.
Since animal mtDNA evolves faster than nuclear

genetic markers,[5][6][7] it represents a mainstay of
phylogenetics and evolutionary biology. It also
permits an examination of the relatedness of Mitochondrial DNA is the small circular
populations, and so has become important in chromosome found inside mitochondria. These
anthropology and biogeography. organelles found in cells have often been called the
powerhouse of the cell.[1] The mitochondria, and
thus mitochondrial DNA, are passed almost
exclusively from mother to offspring through the
Contents egg cell.
Origin
Genome structure and diversity
Animals
Plants and fungi
Protists
Replication
Genes on the mtDNA and their
transcription
Regulation of transcription
Mitochondrial inheritance
Female inheritance
The mitochondrial bottleneck
Male inheritance
Mitochondrial donation
Mutations and disease
Susceptibility
Genetic illness
Use in disease diagnosis
Relationship with aging
Neurodegenerative diseases
Correlation of the mtDNA base
composition with animal life spans
Relationship with non-B (non-canonical)
DNA structures
Use in identification
History
Mitochondrial sequence databases
Mitochondrial mutation databases
See also
References
Electron microscopy reveals
External links mitochondrial DNA in discrete foci.
Bars: 200 nm. (A) Cytoplasmic
section after immunogold labelling
Origin with anti-DNA; gold particles marking
mtDNA are found near the
Nuclear and mitochondrial DNA are thought to be of separate mitochondrial membrane (black dots
evolutionary origin, with the mtDNA being derived from the in upper right). (B) Whole mount view
circular genomes of the bacteria that were engulfed by the early of cytoplasm after extraction with
CSK buffer and immunogold labelling
ancestors of today's eukaryotic cells. This theory is called the
with anti-DNA; mtDNA (marked by
endosymbiotic theory. In the cells of extant organisms, the vast gold particles) resists extraction.
majority of the proteins present in the mitochondria (numbering From Iborra et al., 2004.[2]
approximately 1500 different types in mammals) are coded for by
nuclear DNA, but the genes for some, if not most, of them are
thought to have originally been of bacterial origin, having since been transferred to the eukaryotic
nucleus during evolution.[8]
The reasons why mitochondria have retained some genes are debated. The existence in some species of
mitochondrion-derived organelles lacking a genome[9] suggests that complete gene loss is possible, and
transferring mitochondrial genes to the nucleus has several advantages.[10] The difficulty of targeting
remotely-produced hydrophobic protein products to the mitochondrion is one hypothesis for why some
genes are retained in mtDNA;[11] colocalisation for redox regulation is another, citing the desirability of
localised control over mitochondrial machinery.[12] Recent analysis of a wide range of mtDNA genomes
suggests that both these features may dictate mitochondrial gene retention.[8]
Genome structure and diversity

There are six main genome types found in mitochondrial genomes, classified by their structure (e.g.
circular versus linear), size, presence of introns or plasmid like structures, and whether the genetic
material is a singular molecule or collection of homogeneous or heterogeneous molecules.[13]
In many unicellular organisms (e.g., the ciliate Tetrahymena and the green alga Chlamydomonas
reinhardtii), and in rare cases also in multicellular organisms (e.g. in some species of Cnidaria), the
mtDNA is found as linearly organized DNA. Most of these linear mtDNAs possess telomerase-
independent telomeres (i.e., the ends of the linear DNA) with different modes of replication, which have
made them interesting objects of research because many of these unicellular organisms with linear
mtDNA are known pathogens.[14]
Animals
There is only one mitochondrial genome type found in animal cells. This genome usually contains one
circular molecule with between 11–28 kbp of genetic material (type 1).[13]
Plants and fungi

There are three different genome types found in plants and fungi. The first type is a circular genome that
has introns (type 2) and may range from 19 to 1000 kbp in length. The second genome type is a circular
genome (about 20–1000 kbp) that also has a plasmid-like structure (1 kb) (type 3). The final genome type
that can be found in plant and fungi is a linear genome made up of homogeneous DNA molecules (type
5).
Great variation in mtDNA gene content and size exists among fungi and plants, although there appears to
be a core subset of genes that are present in all eukaryotes (except for the few that have no mitochondria
at all).[8] Some plant species have enormous mitochondrial genomes, with Silene conica mtDNA
containing as many as 11,300,000 base pairs.[15] Surprisingly, even those huge mtDNAs contain the same
number and kinds of genes as related plants with much smaller mtDNAs.[16] The genome of the
mitochondrion of the cucumber (Cucumis sativus) consists of three circular chromosomes (lengths 1556,
84 and 45 kilobases), which are entirely or largely autonomous with regard to their replication.[17]
Protists
Protists contain the most diverse mitochondrial genomes, with five different types found in this kingdom.
Type 2, type 3 and type 5 mentioned in the plant and fungal genomes also exist in some protists, as do
two unique genome types. One of these unique types is a heterogeneous collection of circular DNA
molecules (type 4) while the other is a heterogeneous collection of linear molecules (type 6). Genome
types 4 and 6 each range from 1–200 kbp in size.
The smallest mitochondrial genome sequenced to date is the 5,967 bp mtDNA of the parasite
Plasmodium falciparum.[18][19]
Endosymbiotic gene transfer, the process by which genes that were coded in the mitochondrial genome
are transferred to the cell's main genome, likely explains why more complex organisms such as humans
have smaller mitochondrial genomes than simpler organisms such as protists.
Genome
Kingdom Introns Size Shape Description
Type[13]
1 Animal No 11–28 kbp Circular Single molecule
Fungi, Plant, 19–1000
2 Yes Circular Single molecule
Protista kbp
Fungi, Plant, 20–1000 Large molecule and small plasmid like
3 No Circular
Protista kbp structures
4 Protista No 1–200 kbp Circular Heterogeneous group of molecules
Fungi, Plant,
5 No 1–200 kbp Linear Homogeneous group of molecules
Protista
6 Protista No 1–200 kbp Linear Heterogeneous group of molecules
Replication
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.[20] The replisome machinery is formed by DNA polymerase, TWINKLE and
mitochondrial SSB proteins. TWINKLE is a helicase, which unwinds short stretches of dsDNA in the 5′
to 3′ direction.[21] All these polypeptides are encoded in the nuclear genome.
During embryogenesis, replication of mtDNA is strictly down-regulated from the fertilized oocyte
through the preimplantation embryo.[22] The resulting reduction in per-cell copy number of mtDNA
plays a role in the mitochondrial bottleneck, exploiting cell-to-cell variability to ameliorate the
inheritance of damaging mutations.[23] According to Justin St. John and colleagues, "At the blastocyst
stage, the onset of mtDNA replication is specific to the cells of the trophectoderm.[22] In contrast, the
cells of the inner cell mass restrict mtDNA replication until they receive the signals to differentiate to
specific cell types."[22]
Genes on the mtDNA and their

transcription
The two strands of the human mitochondrial DNA
are distinguished as the heavy strand and the light
strand. The heavy strand is rich in guanine and
encodes 12 subunits of the oxidative phosphorylation
system, two ribosomal RNAs (12S and 16S), and 14
tRNAs. The light strand encodes one subunit, and 8
tRNAs. So, altogether mtDNA encodes for two
rRNAs, 22 tRNAs, and 13 proteins subunits, all of
which are involved in the oxidative phosphorylation
process.[24][25]
The complete sequence of the human Human mitochondrial DNA with the 37 genes on
mitochondrial DNA in graphic form (https://w their respective H- and L-strands.
ww.ncbi.nlm.nih.gov/nuccore/NC_012920.1?
report=graph)
The 37 genes of the Cambridge Reference Sequence for human mitochondrial DNA and their locations[26]
Positions
Gene Type Product Strand
in the mitogenome
MT- protein ATP synthase, Fo subunit 8 (complex 08,366–08,572 (overlap with MT-
H
ATP8 coding V) ATP6)
MT- protein ATP synthase, Fo subunit 6 (complex 08,527–09,207 (overlap with MT-
H
ATP6 coding V) ATP8)
MT- protein Cytochrome c oxidase, subunit 1
05,904–07,445 H
CO1 coding (complex IV)
07,586–08,269 H
09,207–09,990 H
MT- protein
Cytochrome b (complex III) 14,747–15,887 H
CYB coding
MT- protein NADH dehydrogenase, subunit 1
03,307–04,262 H
ND1 coding (complex I)
04,470–05,511 H
10,059–10,404 H
MT- protein NADH dehydrogenase, subunit 4L 10,470–10,766 (overlap with MT-
H
ND4L coding (complex I) ND4)
MT- protein NADH dehydrogenase, subunit 4 10,760–12,137 (overlap with MT-
H
ND4 coding (complex I) ND4L)
12,337–14,148 H
14,149–14,673 L
MT- protein
Humanin — —
RNR2 coding
transfer
MT-TA tRNA-Alanine (Ala or A) 05,587–05,655 L
RNA
transfer
MT-TR tRNA-Arginine (Arg or R) 10,405–10,469 H
RNA
transfer
MT-TN tRNA-Asparagine (Asn or N) 05,657–05,729 L
RNA
transfer
MT-TD tRNA-Aspartic acid (Asp or D) 07,518–07,585 H
RNA
transfer
MT-TC tRNA-Cysteine (Cys or C) 05,761–05,826 L
RNA
transfer
MT-TE tRNA-Glutamic acid (Glu or E) 14,674–14,742 L
RNA
transfer
MT-TQ tRNA-Glutamine (Gln or Q) 04,329–04,400 L
RNA
transfer
MT-TG tRNA-Glycine (Gly or G) 09,991–10,058 H
RNA
MT-TH transfer tRNA-Histidine (His or H) 12,138–12,206 H
RNA
transfer
MT-TI tRNA-Isoleucine (Ile or I) 04,263–04,331 H
RNA
transfer
MT-TL1 tRNA-Leucine (Leu-UUR or L) 03,230–03,304 H
RNA
transfer
MT-TL2 tRNA-Leucine (Leu-CUN or L) 12,266–12,336 H
RNA
transfer
MT-TK tRNA-Lysine (Lys or K) 08,295–08,364 H
RNA
transfer
MT-TM tRNA-Methionine (Met or M) 04,402–04,469 H
RNA
transfer
MT-TF tRNA-Phenylalanine (Phe or F) 00,577–00,647 H
RNA
transfer
MT-TP tRNA-Proline (Pro or P) 15,956–16,023 L
RNA
transfer
MT-TS1 tRNA-Serine (Ser-UCN or S) 07,446–07,514 L
RNA
transfer
MT-TS2 tRNA-Serine (Ser-AGY or S) 12,207–12,265 H
RNA
transfer
MT-TT tRNA-Threonine (Thr or T) 15,888–15,953 H
RNA
transfer
MT-TW tRNA-Tryptophan (Trp or W) 05,512–05,579 H
RNA
transfer
MT-TY tRNA-Tyrosine (Tyr or Y) 05,826–05,891 L
RNA
transfer
MT-TV tRNA-Valine (Val or V) 01,602–01,670 H
RNA
MT- ribosomal
Small subunit : SSU (12S) 00,648–01,601 H
RNR1 RNA
MT- ribosomal
Large subunit : LSU (16S) 01,671–03,229 H
RNR2 RNA
Between most (but not all) protein-coding regions, tRNAs are present (see the human mitochondrial
genome map). During transcription, the tRNAs acquire their characteristic L-shape that gets recognized
and cleaved by specific enzymes. With the mitochondrial RNA processing, individual mRNA, rRNA,
and tRNA sequences are released from the primary transcript.[27] Folded tRNAs therefore act as
secondary structure punctuations.[28]
Regulation of transcription
The promoters for the initiation of the transcription of the heavy and light strands are located in the main
non-coding region of the mtDNA called the displacement loop, the D-loop.[24] There is evidence that the
transcription of the mitochondrial rRNAs is regulated by the heavy-strand promoter 1 (HSP1), and the
transcription of the polycistronic transcripts coding for the protein subunits are regulated by HSP2.[24]
Measurement of the levels of the mtDNA-encoded RNAs in bovine tissues has shown that there are
major differences in the expression of the mitochondrial RNAs relative to total tissue RNA.[29] Among
the 12 tissues examined the highest level of expression was observed in heart, followed by brain and
steroidogenic tissue samples.[29]
As demonstrated by the effect of the trophic hormone ACTH on adrenal cortex cells, the expression of
the mitochondrial genes may be strongly regulated by external factors, apparently to enhance the
synthesis of mitochondrial proteins necessary for energy production.[29] Interestingly, while the
expression of protein-encoding genes was stimulated by ACTH, the levels of the mitochondrial 16S
rRNA showed no significant change.[29]
Mitochondrial inheritance
In most multicellular organisms, mtDNA is inherited from the mother (maternally inherited).
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),[30][31] 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. Whatever the mechanism, this single parent (uniparental
inheritance) pattern of mtDNA inheritance is found in most animals, most plants and also in fungi.
In exceptional cases, human babies sometimes inherit mtDNA from both their fathers and their mothers
resulting in mtDNA heteroplasmy.[32]
Female inheritance
In sexual reproduction, 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 sperm's tail, which is used for propelling the sperm cells;
sometimes the 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.[33]
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 genealogical researchers to trace
maternal lineage far back in time. (Y-chromosomal DNA, paternally inherited, is used in an analogous
way to determine the patrilineal history.) This is usually accomplished on human mitochondrial DNA by
sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule
of the mitochondrial DNA, as a genealogical DNA test.[34] HVR1, for example, consists of about 440
base pairs. These 440 base pairs are compared to the same regions of other individuals (either specific
people or subjects in a database) to determine maternal lineage. Most often, the comparison is made with
the revised Cambridge Reference Sequence. Vilà et al. have published studies tracing the matrilineal
descent of domestic dogs from wolves.[35] 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.
mtDNA is highly conserved, and its relatively slow mutation rates (compared to other DNA regions such
as microsatellites) make it useful for studying the evolutionary relationships—phylogeny—of organisms.
Biologists can determine and then compare mtDNA sequences among different species and use the
comparisons to build an evolutionary tree for the species examined. However, due to the slow mutation
rates, it is often hard to distinguish between closely related species to any large degree, so other methods
of analysis must be used.
The mitochondrial bottleneck

Entities subject to uniparental inheritance and with little to no recombination may be expected to be
subject to Muller's ratchet, the accumulation of deleterious mutations until functionality is lost. Animal
populations of mitochondria avoid this through a developmental process known as the mtDNA
bottleneck. The bottleneck exploits random processes in the cell to increase the cell-to-cell variability in
mutant load as an organism develops: a single egg cell with some proportion of mutant mtDNA thus
produces an embryo in which different cells have different mutant loads. Cell-level selection may then
act to remove those cells with more mutant mtDNA, leading to a stabilisation or reduction in mutant load
between generations. The mechanism underlying the bottleneck is debated,[36][37][38][39] with a recent
mathematical and experimental metastudy providing evidence for a combination of random partitioning
of mtDNAs at cell divisions and random turnover of mtDNA molecules within the cell.[23]
Male inheritance
Male mitochondrial DNA inheritance has been discovered in Plymouth Rock chickens.[40] Evidence
supports rare instances of male mitochondrial inheritance in some mammals as well. Specifically,
documented occurrences exist for mice,[41][42] where the male-inherited mitochondria were subsequently
rejected. It has also been found in sheep,[43] and in cloned cattle.[44] Rare cases of male mitochondrial
inheritance have been documented in humans.[45][46][47][48] Although many of these cases involve
cloned embryos or subsequent rejection of the paternal mitochondria, others document in vivo inheritance
and persistence under lab conditions.
Doubly uniparental inheritance of mtDNA is observed in bivalve mollusks. In those species, females
have only one type of mtDNA (F), whereas males have F type mtDNA in their somatic cells, but M type
of mtDNA (which can be as much as 30% divergent) in germline cells.[49] Paternally inherited
mitochondria have additionally been reported in some insects such as fruit flies,[50][51] honeybees,[52]
and periodical cicadas.[53]
Mitochondrial donation
An IVF technique known as mitochondrial donation or mitochondrial replacement therapy (MRT) results
in offspring containing mtDNA from a donor female, and nuclear DNA from the mother and father. In
the spindle transfer procedure, the nucleus of an egg is inserted into the cytoplasm of an egg from a
donor female which has had its nucleus removed, but still contains the donor female's mtDNA. The
composite egg is then fertilized with the male's sperm. The procedure is used when a woman with
genetically defective mitochondria wishes to procreate and produce offspring with healthy
mitochondria.[54] The first known child to be born as a result of mitochondrial donation was a boy born
to a Jordanian couple in Mexico on 6 April 2016.[55]
Mutations and disease
Susceptibility
The concept that mtDNA is particularly susceptible to reactive oxygen species generated by the
respiratory chain due to its proximity remains controversial.[56] mtDNA does not accumulate any more
oxidative base damage than nuclear DNA.[57] It has been reported that at least some types of oxidative
DNA damage are repaired more efficiently in mitochondria than they are in the nucleus.[58] mtDNA is
packaged with proteins which appear to be as protective as proteins of the nuclear chromatin.[59]
Moreover, mitochondria evolved a unique
mechanism which maintains mtDNA integrity
through degradation of excessively damaged
genomes followed by replication of intact/repaired
mtDNA. This mechanism is not present in the
nucleus and is enabled by multiple copies of mtDNA
present in mitochondria [60] The outcome of
mutation in mtDNA may be an alteration in the
coding instructions for some proteins,[61] which may
have an effect on organism metabolism and/or
fitness.
Human mitochondrial DNA with groups of protein-,

Genetic illness rRNA- and tRNA-encoding genes.
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 heart, eye, and muscle
movements. Some evidence suggests that they might
be major contributors to the aging process and age-
associated pathologies.[62] Particularly in the context
of disease, the proportion of mutant mtDNA
molecules in a cell is termed heteroplasmy. The
within-cell and between-cell distributions of
heteroplasmy dictate the onset and severity of
disease [63] and are influenced by complicated
stochastic processes within the cell and during
development.[23][64]
The involvement of mitochondrial DNA in several
Mutations in mitochondrial tRNAs can be human diseases.
responsible for severe diseases like the MELAS and

MERRF syndromes.[65]
Mutations in nuclear genes that encode proteins that mitochondria use can also contribute to
mitochondrial diseases. These diseases do not follow mitochondrial inheritance patterns, but instead
follow Mendelian inheritance patterns.[66]
Use in disease diagnosis

Recently a mutation in mtDNA has been used to help diagnose prostate cancer in patients with negative
prostate biopsy.[67][68] mtDNA alterations can be detected in the bio-fluids of patients with cancer.[69]
Relationship with aging

Though the idea is controversial, some evidence suggests a link between aging and mitochondrial
genome dysfunction.[70] In essence, mutations in mtDNA upset a careful balance of reactive oxygen
species (ROS) production and enzymatic ROS scavenging (by enzymes like superoxide dismutase,
catalase, glutathione peroxidase and others). However, some mutations that increase ROS production
(e.g., by reducing antioxidant defenses) in worms increase, rather than decrease, their longevity.[56] Also,
naked mole rats, rodents about the size of mice, live about eight times longer than mice despite having
reduced, compared to mice, antioxidant defenses and increased oxidative damage to biomolecules.[71]
Once, there was thought to be a positive feedback loop at work (a 'Vicious Cycle'); as mitochondrial
DNA accumulates genetic damage caused by free radicals, the mitochondria lose function and leak free
radicals into the cytosol. A decrease in mitochondrial function reduces overall metabolic efficiency.[72]
However, this concept was conclusively disproved when it was demonstrated that mice, which were
genetically altered to accumulate mtDNA mutations at accelerated rate do age prematurely, but their
tissues do not produce more ROS as predicted by the 'Vicious Cycle' hypothesis.[73] Supporting a link
between longevity and mitochondrial DNA, some studies have found correlations between biochemical
properties of the mitochondrial DNA and the longevity of species.[74] Extensive research is being
conducted to further investigate this link and methods to combat aging. Presently, gene therapy and
nutraceutical supplementation are popular areas of ongoing research.[75][76] Bjelakovic et al. analyzed the
results of 78 studies between 1977 and 2012, involving a total of 296,707 participants, and concluded
that antioxidant supplements do not reduce all-cause mortality nor extend lifespan, while some of them,
such as beta carotene, vitamin E, and higher doses of vitamin A, may actually increase mortality.[77]
Neurodegenerative diseases
Increased mtDNA damage is a feature of several neurodegenerative diseases.
The brains of individuals with Alzheimer’s disease have elevated levels of oxidative DNA damage in
both nuclear DNA and mtDNA, but the mtDNA has approximately 10-fold higher levels than nuclear
DNA.[78] It has been proposed that aged mitochondria is the critical factor in the origin of
neurodegeneration in Alzheimer’s disease.[79]
In Huntington’s disease, mutant huntingtin protein causes mitochondria dysfunction involving inhibition
of mitochondrial electron transport, higher levels of reactive oxygen species and increased oxidative
stress.[80] Mutant huntingtin protein promotes oxidative damage to mtDNA, as well as nuclear DNA, that
may contribute to Huntington’s disease pathology.[81]
The DNA oxidation product 8-oxoguanine (8-oxoG) is a well-established marker of oxidative DNA
damage. In persons with amyotrophic lateral sclerosis (ALS), the enzymes that normally repair 8-oxoG
DNA damages in the mtDNA of spinal motor neurons are impaired.[82] Thus oxidative damage to
mtDNA of motor neurons may be a significant factor in the etiology of ALS.
Correlation of the mtDNA base composition with animal life spans

Over the past decade, an Israeli research group led by Professor Vadim Fraifeld has shown that strong
and significant correlations exist between the mtDNA base composition and animal species-specific
maximum life spans.[83][84][85] As demonstrated in their work, higher mtDNA guanine + cytosine
content (GC%) strongly associates with longer maximum life spans across animal species. An additional
observation is that the mtDNA GC% correlation with the maximum life spans is independent of the well-
known correlation between animal species metabolic rate and maximum life spans. The mtDNA GC%
and resting metabolic rate explain the differences in animal species maximum life spans in a
multiplicative manner (i.e., species maximum life span = their mtDNA GC% * metabolic rate).[84] To
support the scientific community in carrying out comparative analyses between mtDNA features and
longevity across animals, a dedicated database was built named MitoAge (http://www.mitoage.info/).[86]
Relationship with non-B (non-canonical) DNA
structures
Deletion breakpoints frequently occur within or near regions
showing non-canonical (non-B) conformations, namely hairpins,
cruciforms and cloverleaf-like elements.[87] Moreover, there is
data supporting the involvement of helix-distorting intrinsically Animal species mtDNA base
curved regions and long G-tetrads in eliciting instability events. composition was retrieved from the
In addition, higher breakpoint densities were consistently MitoAge database and compared to
their maximum life span from AnAge
observed within GC-skewed regions and in the close vicinity of
database.
the degenerate sequence motif YMMYMNNMMHM.[88]
Use in identification
Unlike nuclear DNA, which is inherited from both parents and in which genes are rearranged in the
process of recombination, there is usually no change in mtDNA from parent to offspring. Although
mtDNA also recombines, it does so with copies of itself within the same mitochondrion. Because of this
and because the mutation rate of animal mtDNA is higher than that of nuclear DNA,[89] mtDNA is a
powerful tool for tracking ancestry through females (matrilineage) and has been used in this role to track
the ancestry of many species back hundreds of generations.
The rapid mutation rate (in animals) makes mtDNA useful for assessing genetic relationships of
individuals or groups within a species and also for identifying and quantifying the phylogeny
(evolutionary relationships; see phylogenetics) among different species. To do this, biologists determine
and then compare the mtDNA sequences from different individuals or species. Data from the
comparisons is used to construct a network of relationships among the sequences, which provides an
estimate of the relationships among the individuals or species from which the mtDNAs were taken.
mtDNA can be used to estimate the relationship between both closely related and distantly related
species. Due to the high mutation rate of mtDNA in animals, the 3rd positions of the codons change
relatively rapidly, and thus provide information about the genetic distances among closely related
individuals or species. On the other hand, the substitution rate of mt-proteins is very low, thus amino acid
changes accumulate slowly (with corresponding slow changes at 1st and 2nd codon positions) and thus
they provide information about the genetic distances of distantly related species. Statistical models that
treat substitution rates among codon positions separately, can thus be used to simultaneously estimate
phylogenies that contain both closely and distantly related species[65]
Mitochondrial DNA was admitted into evidence for the first time ever in a United States courtroom in
1996 during State of Tennessee v. Paul Ware.[90]
In the 1998 United States court case of Commonwealth of Pennsylvania v. Patricia Lynne Rorrer,[91]
mitochondrial DNA was admitted into evidence in the State of Pennsylvania for the first time.[92][93] The
case was featured in episode 55 of season 5 of the true crime drama series Forensic Files (season 5).
Mitochondrial DNA was first admitted into evidence in California, United States, in the successful
prosecution of David Westerfield for the 2002 kidnapping and murder of 7-year-old Danielle van Dam in
San Diego: it was used for both human and dog identification.[94] This was the first trial in the U.S. to
admit canine DNA.[95]
The remains of King Richard III were identified by comparing his mtDNA with that of two matrilineal
descendants of his sister.[96]
History
Mitochondrial DNA was discovered in the 1960s by Margit M. K. Nass and Sylvan Nass by electron
microscopy as DNase-sensitive threads inside mitochondria,[97] and by Ellen Haslbrunner, Hans Tuppy
and Gottfried Schatz by biochemical assays on highly purified mitochondrial fractions.[98]
Mitochondrial sequence databases

Several specialized databases have been founded to collect mitochondrial genome sequences and other
information. Although most of them focus on sequence data, some of them include phylogenetic or
functional information.
AmtDB: a database of ancient human mitochondrial genomes.[99]

InterMitoBase: an annotated database and analysis platform of protein-protein interactions
for human mitochondria.[100] (apparently last updated in 2010, but still available)
MitoBreak: the mitochondrial DNA breakpoints database.[101]
MitoFish and MitoAnnotator: a mitochondrial genome database of fish.[102] See also
Cawthorn et al.[103]
Mitome: a database for comparative mitochondrial genomics in metazoan animals[104] (no
longer available)
MitoRes: a resource of nuclear-encoded mitochondrial genes and their products in
metazoa[105] (apparently no longer being updated)
MitoSatPlant: Mitochondrial microsatellites database of viridiplantae.[106]
MitoZoa 2.0: a database for comparative and evolutionary analyses of mitochondrial
genomes in Metazoa.[107] (no longer available)
Mitochondrial mutation databases

Several specialized databases exist that report polymorphisms and mutations in the human mitochondrial
DNA, together with the assessment of their pathogenicity.
MitImpact: A collection of pre-computed pathogenicity predictions for all nucleotide

changes that cause non-synonymous substitutions in human mitochondrial protein coding
genes [3] (http://mitimpact.css-mendel.it/).
MITOMAP: A compendium of polymorphisms and mutations in human mitochondrial DNA
[4] (http://www.mitomap.org/MITOMAP).
See also
Clade
CoRR hypothesis
Haplogroup
Heteroplasmy
Human mitochondrial DNA haplogroup
Human mitochondrial genetics
Mitochondrial disease
Mitochondrial DNA (journal)
Mitochondrial Eve
Mitochondrial rCRS
Paternal mtDNA transmission
Single origin theory
Supercluster (genetic)
TIM/TOM complex
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Mitochondrial DNA

Mitochondrial DNA (mtDNA or mDNA)[3] is the

Human mitochondrial DNA was the first significant

Since animal mtDNA evolves faster than nuclear

Genome structure and diversity

Plants and fungi

Genes on the mtDNA and their

The mitochondrial bottleneck

Mutations and disease

Human mitochondrial DNA with groups of protein-,

responsible for severe diseases like the MELAS and

Use in disease diagnosis

Relationship with aging

Correlation of the mtDNA base composition with animal life spans

Mitochondrial sequence databases

AmtDB: a database of ancient human mitochondrial genomes.[99]

Mitochondrial mutation databases

MitImpact: A collection of pre-computed pathogenicity predictions for all nucleotide

Retrieved from "https://en.wikipedia.org/w/index.php?title=Mitochondrial_DNA&oldid=930280766"

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