In
genetics, paternal mtDNA transmission and paternal mtDNA inheritance refer to the incidence of
mitochondrial DNA
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial D ...
(mtDNA) being passed from a
father to his offspring. Paternal mtDNA inheritance is observed in a small proportion of species; in general, mtDNA is passed unchanged from a mother to her offspring, making it an example of non-
Mendelian inheritance. In contrast, mtDNA transmission from both parents occurs regularly in certain
bivalves
Bivalvia (), in previous centuries referred to as the Lamellibranchiata and Pelecypoda, is a class of marine and freshwater molluscs that have laterally compressed bodies enclosed by a shell consisting of two hinged parts. As a group, bival ...
.
In animals
Paternal mtDNA inheritance in animals varies. For example, in
Mytilidae mussels, paternal mtDNA "is transmitted through the sperm and establishes itself only in the male gonad." In testing 172
sheep, "The Mitochondrial DNA from three lambs in two half-sib families were found to show paternal inheritance." An instance of paternal leakage resulted in a study on chickens. There has been evidences that paternal leakage is an integral part of mitochondrial inheritance of ''
Drosophila simulans
''Drosophila simulans'' is a species of fly closely related to ''D. melanogaster'', belonging to the same ''melanogaster'' species subgroup. Its closest relatives are ''D. mauritiana'' and ''D. sechellia''.
Taxonomy
This species was discovere ...
''.
In humans
In
human mitochondrial genetics, there is debate over whether or not paternal mtDNA transmission is possible. Many studies hold that paternal mtDNA is never transmitted to offspring. This thought is central to mtDNA
genealogical DNA testing and to the theory of
mitochondrial Eve. 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.
In
sexual reproduction, paternal mitochondria found in the
sperm
Sperm is the male reproductive cell, or gamete, in anisogamous forms of sexual reproduction (forms in which there is a larger, female reproductive cell and a smaller, male one). Animals produce motile sperm with a tail known as a flagellum, whi ...
are actively decomposed, thus preventing "paternal leakage". Mitochondria in mammalian sperm are usually destroyed by the egg cell after 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
An embryo is an initial stage of development of a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male spe ...
. Some
in vitro fertilization (IVF) techniques, particularly intracytoplasmic sperm injection (ICSI) of a sperm into an
oocyte, may interfere with this.
It is now understood that the tail of the
sperm
Sperm is the male reproductive cell, or gamete, in anisogamous forms of sexual reproduction (forms in which there is a larger, female reproductive cell and a smaller, male one). Animals produce motile sperm with a tail known as a flagellum, whi ...
, which contains additional mtDNA, may also enter the
egg
An egg is an organic vessel grown by an animal to carry a possibly fertilized egg cell (a zygote) and to incubate from it an embryo within the egg until the embryo has become an animal fetus that can survive on its own, at which point the a ...
. This had led to increased controversy about the fate of paternal mtDNA.
Some sources state that so little paternal mtDNA is transmitted as to be negligible ("At most, one presumes it must be less than 1 in 1000, since there are 100 000 mitochondria in the human egg and only 100 in the sperm (Satoh and Kuroiwa, 1991)."
) or that paternal mtDNA is so rarely transmitted as to be negligible ("Nevertheless, studies have established that paternal mtDNA is so rarely transmitted to offspring that mtDNA analyses remain valid..."). A few studies indicate that, very rarely, a small portion of a person's mitochondria can be inherited from the father.
The controversy about human paternal leakage was summed up in the 1996 study ''Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution,'' which was peer-reviewed and printed in ''Proceedings of the National Academy of Sciences.'' According to the study's abstract:
The mixing of maternal and paternal mtDNA was thought to have been found in chimpanzees in 1999 and in humans in 1999 and 2018. This last finding is significant, as biparental mtDNA was observed in subsequent generations in three different families leading to the conclusion that, although the maternal transmission dogma remains strong, there is evidence that paternal transmission does exist and there is a probably a mechanism which, if elucidated, can be a new tool in the reproductive field (e.g. avoiding mitochondrial replacement therapy, and just using this mechanism so that the offspring inherit the paternal mitochondria). However, there has been only a single documented case among humans in which as much as 90% of a single tissue type's mitochondria was inherited through paternal transmission.
According to the 2005 study ''More evidence for non-maternal inheritance of mitochondrial DNA?'',
heteroplasmy
Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases. Because most eukaryotic cells ...
is a "newly discovered form of inheritance for mtDNA. Heteroplasmy introduces slight statistical uncertainty in normal inheritance patterns." Heteroplasmy may result from a mutation during development which is propagated to only a subset of the adult cells, or may occur when two slightly different mitochondrial sequences are inherited from the mother as a result of several hundred mitochondria being present in the ovum. However, the 2005 study states:
A study published in PNAS in 2018 titled ''Biparental Inheritance of Mitochondrial DNA in Humans'' has found paternal mtDNA in 17 individuals from three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals.
In protozoa
Some organisms, such as ''
Cryptosporidium
''Cryptosporidium'', sometimes informally called crypto, is a genus of apicomplexan parasitic alveolates that can cause a respiratory and gastrointestinal illness (cryptosporidiosis) that primarily involves watery diarrhea (intestinal cryptosp ...
'', have mitochondria with no DNA whatsoever.
In plants
In plants, it has also been reported that mitochondria can occasionally be inherited from the father, e.g. in
banana
A banana is an elongated, edible fruit – botanically a berry – produced by several kinds of large herbaceous flowering plants in the genus ''Musa''. In some countries, bananas used for cooking may be called "plantains", distinguis ...
s. Some
Conifer
Conifers are a group of conifer cone, cone-bearing Spermatophyte, seed plants, a subset of gymnosperms. Scientifically, they make up the phylum, division Pinophyta (), also known as Coniferophyta () or Coniferae. The division contains a single ...
s also show paternal inheritance of mitochondria, such as the coast redwood, ''
Sequoia sempervirens''.
See also
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Y-chromosomal Adam
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Patrilineality
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Matrilineality
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Human mitochondrial genetics
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Human migration
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RecLOH
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List of genetic genealogy topics
References
External links
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as PDF Paternal inheritance of mitochondrial DNA(PDF) by Marianne Schwartz and John Vissing, 2002
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PubMed
search results for "paternal leakage"search results for "paternal mtDNA"search results for "father's mtDNA"
{{DEFAULTSORT:Paternal Mtdna Transmission
Genetic genealogy
Modern human genetic history
Mitochondrial genetics