New patterns of inheritance in mitochondrial disease

Biochemical and Biophysical Research Communications

Volumn 310, Issue 2, 2003, Pages 247-251

  Schwartz, Marianne ^a   Vissing, John ^a  

^a Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ANTHROPOLOGY; CELL COUNT; CYTOLOGY; DILUTION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FERTILIZATION; FERTILIZATION IN VITRO; GENETIC COUNSELING; HUMAN; INHERITANCE; MITOCHONDRION; OOCYTE; PATERNALISM; PRIORITY JOURNAL; REVIEW; SPERM;

EID: 0141682182     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2003.09.037     Document Type: Review

References (46)

1. Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J., Staden R., Young I.G. Sequence and organisation of the human mitochondrial genome. Nature. 290:1981;457-465.
2. Wei Y.H. Oxidative stress and mitochondrial DNA mutations in human aging. Proc. Soc. Exp. Biol. Med. 217:1998;53-63.
3. Birky C.W. Jr. Uniparental inheritance of mitochondrial and chloroplast genes: mechanism and evolution. Proc. Natl. Acad. Sci. USA. 92:1996;11331-11338.
4. Birky C.W. Jr. The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models. Annu. Rev. Genet. 35:2001;125-148.
5. Giles R.E., Blanc H., Cann H.M., Wallace D.C. Maternal inheritance of human mitochondrial DNA. Proc. Natl. Acad. Sci. USA. 77:1980;6715-6719.
6. DiMauro S. Mitochondrial encephalopathies. Rosenberg R.N., Prusiner S.B., DiMauro S., Barchi R.L., Kunkel L.M. The Molecular and Genetic Basis of Neurological Disease. 1993;665-694 Butterworth-Heinemann, London.
7. Cann R.L., Stoneking M., Wilson A.C. Mitochondrial DNA and human evolution. Nature. 325:1987;31-36.
8. Jazin E., Soodyall H., Jalonen P., Lindholm E., Stoneking M., Gyllensten U. Mitochondrial mutation rate revisited: hot spots and polymorphisms. Nat. Genet. 18:1998;109-110.
9. Siguŕardóttir S., Helgason A., Gulcher J.R., Stefansson K., Donnelly P. The mutation rate in the human mtDNA control region. Am. J. Hum. Genet. 66:2000;1599-1609.
10. Ingman H., Kaessmann M., Pääbo S., Gyllensten U. Mitochondrial genome variation and the origin of modern humans. Nature. 408:2000;708-713.
11. Ankel-Simons F., Cummins J.M. Misconceptions about mitochondria and mammalian fertilization: implications for theories on human evolution. Proc. Natl. Acad. Sci. USA. 93:1996;13859-13863.
12. Bromham L., Eyre-Walker A., Smith N.H., Maynard Smith J. Mitochondrial Steve: paternal inheritance of mitochondria in humans. Trends Ecol. Evol. 18:2003;1-3.
13. Diez-Sanchez C., Ruiz-Pesini E., Lapena A.C., Montoya J., Perez-Martos A., Enriquez J.A., Lopez-Perez M.J. Mitochondrial DNA content of human spermatozoa. Biol. Reprod. 68:2003;180-185.
14. Cummins J. Mitochondrial DNA in mammalian reproduction. Rev. Reprod. 3:1998;172-182.
15. Reynier P., May-Panloup P., Chretien M.F., Morgan C.J., Jean M., Savagner F., Barriere P., Malthiery Y. Mitochondrial DNA content affects the fertilizability of human oocytes. Mol. Hum. Reprod. 7:2001;425-429.
16. Gyllensten U., Wharton D., Josefsson A., Wilson A.C. Paternal inheritance of mitochondrial DNA in mice. Nature. 352:1991;255-257.
17. Milligan B.G. Is organelle DNA strictly maternally inherited? Power analysis of a binomial distribution. Am. J. Bot. 79:1992;1325-1328.
18. Kaneda H., Hayashi J.-I., Takahama S., Taya C., Fisher Lindahl K., Yonekawa H. Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proc. Natl. Acad. Sci. USA. 92:1995;4542-4546.
19. Shitara H., Hayashi J.-I., Takahama S., Kaneda H., Yonekawa H. Maternal inheritance of mouse mtDNA in interspecific hybrids: segregation of leaked paternal mtDNA followed by the prevention of subsequent paternal leakage. Genetics. 148:1998;851-857.
20. Shitara H., Kaneda H., Sato A., Inoue K., Ogura A., Yonekawa H., Hayashi J.L. Selective and continuous elimination of mitochondria microinjected into mouse eggs from spermatids, but not from liver cells, occurs throughout embryogenesis. Genetics. 156:2000;1277-1284.
21. Hershko A., Ciechanover A. The ubiquitin system. Annu. Rev. Biochem. 67:1998;425-479.
22. Sutovsky P., Moreno R.D., Ramalho-Santos J., Dominko T., Simerly C., Schatten G. Ubiquitin tag for sperm mitochondria. Nature. 402:1999;371-372.
23. Sutovsky P., Moreno R.D., Ramalho-Santos J., Dominko T., Simerly C., Schatten G. Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos. Biol. Reprod. 63:2000;582-590.
24. Sutovsky P., McCauley T.C., Sutovsky M., Day B.N. Early degradation of paternal mitochondria in domestic pig (Sus scrofa) is prevented by selective proteasomal inhibitors lactacystin and MG 132. Biol. Reprod. 68:2002;1793-1800.
25. Thompson W.E., Ramalho-Santos J., Sutovsky P. Ubiquitination of Prohibitin in mammalian sperm mitochondria: possible roles in the regulation of mitochondrial inheritance and sperm quality control. Biol. Reprod. 69:2003;254-260.
26. Danan C., Stemberg D., Van Steirteghem A., Cazeneuve C., Duquesnoy P., Besmond C., Goossens M., Lissens W., Amselem S. Evaluation of paternal mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. Am. J. Hum. Genet. 65:1999;463-473.
27. St. John J., Sakkas D., Dimitriadi K., Barnes A., Maclin V., Ramey J., Barratt C., De Jonge C. Failure of elimination of paternal mitochondrial DNA in abnormal embryos. Lancet. 355:2000;200.
28. Saville B.J., Kohli Y., Anderson J.B. mtDNA recombination in a natural population. Proc. Natl. Acad. Sci. USA. 95:1998;1331-1335.
29. Awadalla P., Eyre-Walker A., Smith J.M. Linkage disequilibrium and recombination in hominid mitochondrial DNA. Science. 286:1999;2524-2525.
30. Eyre-Walker A., Smith N.H., Smith J.M. How clonal are human mitochondria? Proc. R. Soc. Lond. B Biol. Sci. 266:1999;477-483.
31. Eyre-Walker A. Do mitochondria recombine in humans? Philos. Trans. R. Soc. Lond. B. 355:2000;1573-1580.
32. Eyre-Walker A., Awadalla P. Does human mtDNA recombine? J. Mol. Evol. 53:2001;430-435.
33. Elson J.L., Andrews R.M., Chinnery P.F., Lightowlers R.N., Turnbull D.M., Howell N. Analysis of European mtDNAs for recombination. Am. J. Hum. Genet. 68:2001;145-153.
34. Hagelberg E. Recombination or mutation rate heterogeneity? Implications for mitochondrial eve. Trends Genet. 19:2003;84-90.
35. Thyagarajan B., Padua R.A., Campbell C. Mammalian mitochondria possess homologous DNA recombination activity. J. Biol. Chem. 271:1996;27536-27543.
36. Holt I.J., Dunbar D.J., Jacobs H.T. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum. Mol. Genet. 6:1997;1251-1260.
37. Mason P.A., Matheson E.C., Hall A.G., Lightowlers R.N. Mismatch repair activity in mammalian mitochondria. Nucleic Acids Res. 31:2003;1052-1058.
38. Jacobs H.T., Lehtinen S.K., Spelbrink J.N. No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA. Bioessays. 22:2000;564-572.
39. Schwartz M., Vissing J. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med. 347:2002;576-580.
40. Dumoulin R.I., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol. Cell. Probes. 10:1996;389-391.
41. Andreu A.L., Bruno C., Dunne T.C., Tanji K., Shanske S., Sue C.M., Krishna S., Hadjigeorgiou G.M., Shtilbans A., Bonilla E., DiMauro S. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann. Neurol. 45:1999;127-130.
42. Andreu A., Hanna M.G., Reichmann H., Bruno C., Penn A.S., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., Morgan-Hughes J., DiMauro S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341:1999;1037-1044.
43. Keightley J.A., Hoffbuhr K.C., Burton M.D., Salas V.M., Johnston W.S., Penn A.M., Buist N.R., Kennaway N.G. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat. Genet. 12:1996;410-416.
44. Karadimas C.L., Greenstein P., Sue C.M., Joseph J.T., Tanji K., Haller R.G., Taivassalo T., Davidson M.M., Shanske S., Bonilla E., DiMauro S. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology. 55:2000;644-649.
45. Vissing J., Schwartz M. Paternal inheritance of mitochondrial DNA. N. Engl. J. Med. 347:2002;2081-2082.
46. Kvist L., Martens J., Nazarenko A.A., Markku Orell M. Paternal leakage of mitochondrial DNA in the great tit (Parus major). Mol. Biol. Evol. 20:2003;243-247.