Paternal mtDNA transmission

In genetics, paternal mtDNA transmission and paternal mtDNA inheritance refer to the incidence of mitochondrial DNA (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,[1] making it an example of non-Mendelian inheritance. In contrast, mtDNA transmission from both parents occurs regularly in certain bivalves.

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."[2][3][4] In testing 172 sheep, "The Mitochondrial DNA from three lambs in two half-sib families were found to show paternal inheritance."[5] An instance of paternal leakage resulted in a study on chickens.[6] There has been evidences that paternal leakage is an integral part of the inheritance of Drosophila simulans.[7]

In humans

unaffected mother and affected father leads to all unaffected children, affected mother and unaffected father leads to all affected children
Mitochondrial Inheritance Patterns

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.[8] 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 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.[10] 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, which contains additional mtDNA, may also enter the egg. 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)."[11]) 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..."[12]). One study stated that about 1–2% of a person's mitochondria can be inherited from the father."[13]

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.[14] The following quotation comes from the abstract to that peer-reviewed study printed in the Proceedings of the National Academy of Sciences:

The mixing of maternal and paternal mtDNA was thought to have been found in humans and chimpanzees in 1999.[15][16] However, there has been only a single documented case of human paternal mitochondrial DNA transmission.[17]

According to the 2005 study More evidence for non-maternal inheritance of mitochondrial DNA?,[18] heteroplasmy is a "newly discovered form of inheritance for mtDNA. Heteroplasmy introduces slight statistical uncertainty in normal inheritance patterns."[19] 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:[18]

In protozoa

Some organisms, such as Cryptosporidium, have mitochondria with no DNA whatsoever.[20]

In plants

In plants, it has also been reported that mitochondria can occasionally be inherited from the father, e.g. in bananas. Some Conifers also show paternal inheritance of mitochondria, such as the coast redwood, Sequoia sempervirens.

See also

References

  1. ↑ The mtDNA is passed from mother to offspring unchanged except for the occasional genetic mutation, the rate of which is unknown but is sometimes estimated as once every 600 generations (see Mitochondrial DNA Mutation Rates).
  2. ↑ Zouros E (December 2000). "The exceptional mitochondrial DNA system of the mussel family Mytilidae". Genes Genet. Syst. 75 (6): 313–8. PMID 11280005. doi:10.1266/ggs.75.313. Archived from the original on 2012-07-16.
  3. ↑ Sutherland B, Stewart D, Kenchington ER, Zouros E (1 January 1998). "The fate of paternal mitochondrial DNA in developing female mussels, Mytilus edulis: implications for the mechanism of doubly uniparental inheritance of mitochondrial DNA". Genetics. 148 (1): 341–7. PMC 1459795 Freely accessible. PMID 9475744.
  4. ↑ Male and Female Mitochondrial DNA Lineages in the Blue Mussel (Mytilus edulis) Species Group by Donald T. Stewart, Carlos Saavedra, Rebecca R. Stanwood, Amy 0. Ball, and Eleftherios Zouros
  5. ↑ Zhao X, Li N, Guo W, et al. (October 2004). "Further evidence for paternal inheritance of mitochondrial DNA in the sheep (Ovis aries)". Heredity. 93 (4): 399–403. PMID 15266295. doi:10.1038/sj.hdy.6800516.
  6. ↑ Michelle Alexander; Simon Y. W. Ho; Martyna Molak; Ross Barnett; Örjan Carlborg; Ben Dorshorst; Christa Honaker; Francois Besnier; Per Wahlberg; Keith Dobney; Paul Siegel; Leif Andersson; Greger Larson (September 30, 2015). "Mitogenomic analysis of a 50-generation chicken pedigree reveals a rapid rate of mitochondrial evolution and evidence for paternal mtDNA inheritance". Biology Letters. The Royal Society. 11 (10): 20150561. PMC 4650172 Freely accessible. PMID 26510672. doi:10.1098/rsbl.2015.0561. Retrieved 27 October 2015.
  7. ↑ J N Wolff; M Nafisinia; P Sutovsky; J W O Ballard (September 2012). "Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans". Heredity. 110 (1): 57–62. PMC 3522233 Freely accessible. PMID 23010820. doi:10.1038/hdy.2012.60.
  8. ↑ e.g. Giles RE, Blanc H, Cann HM, Wallace DC (November 1980). "Maternal inheritance of human mitochondrial DNA". Proc. Natl. Acad. Sci. U.S.A. 77 (11): 6715–9. PMC 350359 Freely accessible. PMID 6256757. doi:10.1073/pnas.77.11.6715.
  9. ↑ Ember, Melvin; Ember, Carol R., eds. (2004). Encyclopedia of Medical Anthropology: Health and Illness in the World's Cultures. 1. Cultures. New York: Kluwer Academic/Plenum Publishers. ISBN 0-306-47754-8.
  10. ↑ Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, Simerly C, Schatten G (November 1999). "Ubiquitin tag for sperm mitochondria". Nature. 402 (6760): 371–2. PMID 10586873. doi:10.1038/46466.
  11. 1 2 Ladoukakis ED, Eyre-Walker A (October 2004). "Evolutionary genetics: direct evidence of recombination in human mitochondrial DNA". Heredity. 93 (4): 321. PMID 15329668. doi:10.1038/sj.hdy.6800572.
  12. ↑ evolutionary biologist Andrew Merriwether quoted in Debunking a myth about sperm's DNA. (research indicates paternal mitochondrial DNA does enter fertilized egg) by John Travis, Science News, 1/25/1997
  13. ↑ Mitochondria can be inherited from both parents", New Scientist article on Schwartz and Vissing's report;
    Schwartz M, Vissing J (August 2002). "Paternal inheritance of mitochondrial DNA". N. Engl. J. Med. 347 (8): 576–80. PMID 12192017. doi:10.1056/NEJMoa020350.
  14. ↑ Ankel-Simons F, Cummins JM (November 1996). "Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution". Proc. Natl. Acad. Sci. U.S.A. 93 (24): 13859–63. PMC 19448 Freely accessible. PMID 8943026. doi:10.1073/pnas.93.24.13859.
  15. ↑ Awadalla P, Eyre-Walker A, Smith JM (December 1999). "Linkage disequilibrium and recombination in hominid mitochondrial DNA". Science. 286 (5449): 2524–5. PMID 10617471. doi:10.1126/science.286.5449.2524. as PDF
  16. ↑ Strauss E (December 1999). "Human genetics. mtDNA shows signs of paternal influence". Science. 286 (5449): 2436. PMID 10636798. doi:10.1126/science.286.5449.2436a.
  17. ↑ Schwartz M, Vissing J (2002). "Paternal inheritance of mitochondrial DNA". N. Engl. J. Med. 347 (8): 576–80. PMID 12192017. doi:10.1056/NEJMoa020350.
  18. 1 2 Bandelt HJ; Kong QP; Parson W & Salas A. (May 27, 2005). "More evidence for non-maternal inheritance of mitochondrial DNA?". American Journal of Medical Genetics. 42 (12): 957–60. PMC 1735965 Freely accessible. PMID 15923271. doi:10.1136/jmg.2005.033589.
  19. ↑ Re: Most-recent common ancestor, rastafarispeaks.com
  20. ↑ Henriquez FL, Richards TA, Roberts F, McLeod R, Roberts CW (February 2005). "The unusual mitochondrial compartment of Cryptosporidium parvum". Trends Parasitol. 21 (2): 68–74. PMID 15664529. doi:10.1016/j.pt.2004.11.010.
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