Auszug
Ein Primärmerkmal von Eukaryonten ist der Besitz von Mitochondrien als Bestandteile des Zytoplasmas. Mitochondrien sind zumeist stäbchenförmig und messen zwischen 0,2–1 µm im Durchmesser und 2–8 µm in Längsrichtung. Ihre Zahl schwankt je nach Zelltyp zwischen wenigen Dutzenden in den Spermien und primordialen Keimzellen bis zu Zehntausenden in Leberzellen oder reifen Oozyten. Die bisherige Vorstellung von Mitochondrien als solitären Zellorganellen ist jedoch nicht länger haltbar; Mitochondrien durchziehen die Zelle als verzweigte Netzwerke, welche dynamischen Fusions- und Spaltungsprozessen unterliegen. Die Mitochondrien einer Zelle bilden somit eine strukturelle und physiologische Einheit, die man als mitochondriales Retikulum bezeichnet (Okamoto u. Shaw 2005).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Altman S, Baer M, Guerrier-Takada C, Vioque A (1986) Enzymatic cleavage of RNA by RNA. Trends Biochem Sci 11: 515–518
Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465
Ashley MV, Laipis PJ, Hauswirth WW (1989) Rapid segregation of heteroplasmic bovine mitochondria. Nucleic Acids Res 17: 7325–7331
Attardi G (1985) Animal mitochondrial DNA: an extreme example of genetic economy. Int Rev Cytol 93:93–145
Barrell BG, Bankier AT, Drouin J (1979) A different genetic code in human mitochondria. Nature 282:189–194
Barrell BG, Anderson S, Bankier AT, de Bruijn MH, Chen E, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1980) Different pattern of codon recognition by mammalian mitochondrial tRNAs. Proc Natl Acad Sci USA 77: 3164–3166
Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM (2005) High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38:515–517
Birky CW(1995) Uniparental inheritanceof mitochondiral and chloroplast genes: mechanisms and evolution. Proc Natl Acad Sci USA 92:11331–11338
Cai YC, Bullard JM, Thompson NL, Spremulli LL (2000) Interaction of mitochondrial elongation factor Tu with aminoacyl-tRNA and elongation factor Ts. J Biol Chem 275: 20308–20314
Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31–36
Chang DD, Clayton DA (1985) Priming of human mitochondrial DNA replication occurs at the light-strand promotor. Proc Natl Acad Sci USA 82: 351–355
Chang DD, Clayton DA (1987b) A mammalian mitochondrial RNA processing activity contains nuclear-encoded RNA. Science 235:1178–1184
Chen H, Chan DC (2005) Emerging functions of mammalian mitochondrial fusion and fission. Hum Mol Genet 14: R283–289
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM (2000) Epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188–193
Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM (2001) Point mutations of the mtDNA control region in normal and neurodegenerative human brains. Am J Hum Genet 68: 529–532
Clayton DA (1982) Replication of animal mitochondrial DNA. Cell 28: 693–705
Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet 2: 324–329
Falkenberg M, Gaspari M, Rantanen A., Trifunovic A, Larsson NG, Gustafsson CM (2002) Mitochndrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat Genet 31: 289–294
Fisher RP, Lisowsky T, Parisi MA, Clayton DA (1992) DNA wrapping and bending by a mitochondrial migh mobility group-like transcriptional activator protein. J Biol Chem 267:3358–3367
Gelfand R and Attardi G (1981) Synthesis and turnover of mitochondrial ribonucleic acids in HeLa cells: the mature ribosomal and messenger ribonucleic acid species are metabolically unstable. Mol Cell Biol 1:497–511
Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77: 6715–6719
Gill P, Ivanov PL, Kimpton C, Piercy R, Benson N, Tully G, Evett I, Hagelberg E, Sullivan K(1994) Identification of the remains of the Romanov family by DNA analysis. Nature Genet 6:130–135
Gray MW, Burger G, Lang BF (1999) Mitochondrial evolution. Science 283:1476–1481
Hixson JE, Wong TW, Clayton DA (1986) Both the conserved stemloop abd divergent 5′-flanking sequences are required for initiation at the human mitochondrial origin of light-strand DNA replication. J Biol Chem 261:2384–2390
Hoekstra RF (2000) Evolutionary origin and consequences of uniparental mitochondrial inheritance. Hum Reprod 15(Suppl. 2): 102–111
Holt IJ, Lorimer HE, Jacobs HT (2000) Coupled leading-and lagging strand synthesis of mammalian mitochondrial DNA. Cell 100: 515–524
Howell N (1999) Human mitochondrial disease: answering questions and questioning answers. Int Rev Cyt 186:49–116
Howell N, Kubacka I, Mackey DA (1996) How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59: 501–509
Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55: 203–206
Huo L, Scarpulla RC (2001) Mitochondrial DNA instability and periimplantation lethality associated with targeted disruption of nuclear respiratory factor 1 in mice. Mol Cell Biol 21:644–654
Inoue K, Nakada K, Ogure A, Isobe K, Goto Y, Nonaka I, Hayashi Jl (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26:176–181
Ivanov PL, Wadhams MJ, Roby RK, Holland MM, Weedn VW, Parsons TJ (1996) Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat Genet 12: 417–420
Jackson DA, Bartlett J, Cook PR (1996) Sequences attaching loops of nuclear and mitochondrial DNA to underlying structures in human cells: the role of transcription units. Nucleic Acids Res 24:1212–1219
Jenuth JP, Peterson AC, Fu K, Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14: 146–151
Jenuth JP, Peterson AC, Shoubridge EA (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet 16:93–95
Khrapko K, Collier HA, Andre PC, Li, XC, Hanekamp JS, Thilly W (1997) Mitochondrial mutation spectra in human cells and tissues. Proc Natl Acad Sci USA 94:13798–1380
Knight RD, Freeland SJ, Landweber L (2001) Rewiring the keyboard: evolvability of the genetic code. Nature Rev 2:49–58
Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F, Chrzanowska-Lightowlers ZM, Lightowlers RN, Martin RP, Tarassov I (2004) Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet 13:2519–2534
Krings M, Stone A, Schmitz RW, Krainitzki H, Stoneking M, Pääbo S (1997) Neandertal DNA sequences and the origin of modern humans. Cell 90:19–30
Kruse B, Narasimhan N, Attardi G (1989) Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination. Cell 58:391–397
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C, Prolla TA (2005) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309:481–484
Lang BF, Burger G, O’Kelly CI, Cedergren R, Golding GB, Lemieux C, Sankoff D, Turmel M, Gray MW (1997) An ancestral mitochondrial DNA resembling an eubacterial genome in miniature. Nature 387:493–497
Larsson NG, Wang J, Wilhelmsson H, Oldfors A, Rustin P, Lewandoski M, Barsh GS, Clayton DA (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18: 231–236
Lecrenier N, Foury F (2000) New features of mitochondrial DNA replication system in yeast and man. Gene 246: 37–48
Lee DY, Clayton DA (1997) RNAse mitochondrial RNA processing correctly cleaves a novel R loop at the mitochondrial DNA leading-strand origin of replication. Genes Develop 11: 582–592
Legros F, Malka F, Frachon P, Lombes A, Rojo M (2004) Organization and dynamics of human mitochondrial DNA. J Cell Sci 117: 2653–2662
Liu M and Spremulli L (2000) Interaction of mammalian mitochondrial ribosomes with the inner membrane. J Biol Chem 275: 29400–29406
Manella CA (2006) The relevance of mitochondrial membrane topology to mitochondrial function. Biochim Biophys Acta 1762: 140–147
Margulis, L (1981) Symbiosis in cell evolution. Freeman, San Francisco
Martin M, Cho J, Cesare AJ, Griffith JD, Attardi G (2005) Termination factor mediated DNA loop between termination and initiation sites drives mitochondrial rRNA synthesis. Cell 123:1227–1240
Matthews PM, Hopkin J, Brown R, Stephenson J, Hilton-Jones D, Brown GK (1994) Comparison of the relative levels of the 3243 A→G mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 31:41–44
Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G (1999) Aging-dependent accumulation of point mutations in the human mtDNA control region for replication. Science 286: 774–779
Montoya J, Gaines GL, Attardi G (1983) The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units. Cell 34:151–159
Muller HJ (1964) The relation of recombination to mutational advance. Mutat Res 1:2–9
Nishimura Y, Yoshinari T, Naruse K, Yamada T, Sumi K, Mitani H, Higashiyama T, Kuroiwa T (2006) Active digestion of sperm mitochondrial DNA in single living sperm revealed by optical tweezers. Proc Natl Acad Sci USA 103:1382–1387
Ojala D, Montoya J, Attardi G (1981) tRNA punctuation model of RNA processing in human mitochondria. Science 290:470–474
Okamoto K, Shaw JM (2005) Mitochondrial morphology and dynamics in yeast and multicellular eukaryotes. Annu Rev Genet 39: 503–536
Palmieri F (1994) Mitochondrial carrier proteins. FEBS Lett 246: 48–54
Patel VB, Cunningham CC, Hantgan RR (2001) Physiochemical properties of rat liver mitochondrial ribosomes. J Biol Chem 276: 6739–6746
Pietromonaco SF, Denslow ND, O’Brien TW (1991) Proteins of mammalian mitochondrial ribosomes. Biochimie 73:827–836
Prieto-Martin A, Montaya J, Martinez-Azorin F (2004) Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA. Nucleic Acids Res 32:2059–2068
Puranam RS, Attardi G (2001) The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P. Mol Cell Biol 21: 548–561
Reichert A, Mörl M (2000) Repair of tRNAs in metazoan mitochondria. Nucleic Acids Res 28: 2043–2048
Richter C (1994) Role of mitochondrial DNA modifications in degenerative diseases and aging. Curr Topics Bioenerg 17:1–16
Robberson DL, Clayton DA (1972) Replication of mitochondrial DNA in mouse L cells and their thymidine kinase derivatives: displacement replication on a covalently-closed circular template. Proc Natl Acad Sci USA 69: 3810–3814
Rossmanith W, Tullo A, Potuschak T. Karwan R, Sbisa E (1995) Human mitochondrial tRNA processing. J Biol Chem 270:12885–12891
Sato A, Nakada K, Akimoto M, Ishikawa K, Ono T, Shitara H, Yonekawa H, Hayashi JI (2005) Rare creation of recombinant mtDNA haplotypes in mammalian tissues. Proc Natl Acad Sci USA 102: 6057–6062
Schon EA (2000) Mitochondrial genetics and disease. Trends Biochem Sci 25:555–560
Schwartz M, Vissing J (2002) Paternal inheritance of mitochondrial DNA. New Engl J Med 347: 576–580
Shadel GS, Clayton DA (1997) Mitochondrial DNA maintenance in vertebrates. Annu Rev Biochem 66:409–435
Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, Watts RL, Juncos JL, Hansen LA, Crain BJ, Fayad M, Rechord CL, Wallace DC (1993) Mitochondrial DNA variants observed in Alzheimer and Parkinson disease patients. Genomics 17:171–184
Thyagarajan B, Padua RA, Campbell C (1996) Mammalian mitochondria possess homologous recombination activity. J Biol Chem 271: 27536–27543
Trifunovic A, Wredenberg A, Falkenbaerg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J Jacobs HT, Larsson NG (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429:417–423
Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253:1503–1507
Virbasius CA and Scarpulla RC(1994) Activation of the human transcription factor A gene by nuclear respiratory factors: a potential link between nuclear and mitochondrial gene expression in organelle biogenesis. Proc Natl Acad Sci USA 91: 1309–1313
Wolstenholme DR (1992) Animal mitochondrial DNA: structure and evolution. Int Rev Cytol 141:173–216
Wong TW, Clayton DA (1985) Isolation and characterization of a DNA primase from human mitochondria. J Biol Chem 260: 11530–11535
Xu B, Clayton DA (1996) RNA-DNA hybrid formation at the human mitochondrial heavy-strand origin ceases at replication start sites: an implication for RNA-DNA hybrids serving as primers. EMBOJ 15:3135–3143
Zsurka G, Kraytsberg Y, Kudina T, Kornblum C, Elger CE, Khrapko K, Kunz WS (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy. Nat Genet 37:873–877
Literatur zur Zeittafel
Aloni Y, Attardi G (1971) Symmetrical in vivo transcription of mitochondrial DNA in HeLa cells. Proc Natl Acad Sci USA 68:1757–1761
Altman R (1890) Die Elementarorganismen und Ihre Beziehungen zu den Zellen. Verlag von Veit, Leipzig
Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457–465
Barrell BG, Bankier AT, Drouin J (1979) A different genetic code in human mitochondria. Nature 282:189–194
Benda C (1898) Weitere Mitteilungen über die Mitochondria. Verh Physiol Ges Berlin 376–383
Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325: 31–36
Correns C (1909) Vererbungsversuche mit blass (gelb) grünen und buntblättrigen Sippen bei Mirabilis jalapa, Urtica und Lunaria. Z Indukt AbstammungsVererbungsl, 27: 235–237
Ephrussi B (1953) Nuclear-Cytoplasmic Relations in Micro-Organisms. Oxford University Press, London
Hauswirth WW, Laipis PJ (1982) Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 79:4686–4690
Inoue K, Nakada K, Ogure A, Isobe K, Goto Y, Nonaka I, Hayashi JI (2000) Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet 26:176–181
King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500–503
Krings M, Stone A, Schmitz RW, Krainitzki H, Stoneking M, Pääbo S (1997) Neandertal DNA sequences and the origin of modern humans. Cell 90:19–30
Larsson NG, Wang J, Wilhelmsson H, Oldfors A, Rustin P, Lewandoski M, Barsh GS, Clayton DA (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18: 231–236
Mereschkowsky C (1905) über Natur und Ursprung der Chromatophoren im Pflanzenreiche. Biol Centralbl 25:593–604
Mitchell P (1961) Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism. Nature 191:144–148
Nass S, Nass MMK (1963b) Intramitochondrial fibers with DNA characteristics: Enzymatic and other hydrolytic treatments. J Cell Biol 19:613–629
Palade GE (1952) The fine structure of mitochondria. Anat Rec 114: 427–451
Robberson DL, Clayton DA (1972) Replication of mitochondrial DNA in mouse L cells and their thymidine kinase — derivatives: displacement replication on a covalently-closed circular template. Proc Natl Acad Sci USA 69: 3810–3814
Schimper AFW (1883) über die Entwicklung der Chlorophyllkörner und Farbkörner. Botanische Zeitung 41:105–114
Schwartz M, Vissing J (2002) Paternal inheritance of mitochondrial DNA. New Engl J Med 347:576–580
Trifunovic A, Wredenberg A, Falkenbaerg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J Jacobs HT, Larsson NG (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429:417–423
Von Kölliker A (1856) Zeitschrift für wissenschaftl Zoologie VIII, 311–318
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242:1427–1430
Zsurka G, Kraytsberg Y, Kudina T, Kornblum C, Elger CE, Khrapko K, Kunz WS (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy. Nat Genet 37:873–877
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Wissinger, B. (2008). Mitochondriale DNA des Menschen. In: Ganten, D., Ruckpaul, K. (eds) Grundlagen der Molekularen Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69414-4_5
Download citation
DOI: https://doi.org/10.1007/978-3-540-69414-4_5
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-69412-0
Online ISBN: 978-3-540-69414-4
eBook Packages: Life Science and Basic Disciplines (German Language)