Mark Stoneking, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
Published online: May 2008
DOI: 10.1002/9780470015902.a0005074.pub2
Mitochondria, organelles that are responsible for producing energy for cell metabolism and are also involved in cell death and aging, contain their own genome. This genome has several unusual properties, including a high copy number, a maternal and haploid mode of inheritance and a rapid rate of evolution, that make it of particular interest for reconstructing human evolution.
Keywords: mitochondrial DNA; genome structure; evolution; human diversity; human origins
|
Figure 1. The human mtDNA genome, with functional regions indicated as follows: two rRNA genes (12S and 16S); three genes for subunits of cytochrome oxidase (COI–COIII); seven genes for subunits of reduced form of nicotinamide–adenine dinucleotide (NADH) dehydrogenase (N1–N6, N4L); two genes for subunits of F1 adenosine triphosphatase (ATPase) (6 and 8); the cytochrome b gene; 22 tRNA genes (designated by the standard single-letter code); two origins of replication (O
|
|
Figure 2. A simplified version of the results of phylogenetic analysis of types of mtDNA in human populations. Invariably such trees consist of two primary branches, with only Africans represented on both branches. This sort of pattern is most easily explained by assuming that the ancestor was African (derived from Stoneking,
|
| References | |
| Anderson S, Bankier AT, Barrell BG et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457–465. | |
| Awadalla P, Eyre-Walker A and Smith JM (1999) Linkage disequilibrium and recombination in hominid mitochondrial DNA. Science 286: 2524–2525. | |
| Barrell B, Bankier A and Drouin J (1979) A different genetic code in human mitochondria. Nature 282: 189–194. | |
| Brown W, George M and Wilson A (1979) Rapid evolution of animal mitochondrial DNA. Proceedings of the National Academy of Sciences of the USA 76: 1967–1971. | |
| Cann RL, Stoneking M and Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325: 31–36. | |
| Elson JL, Turnbull DM and Howell N (2004) Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. American Journal of Human Genetics 74: 229–238. | |
| Emerson BC (2007) Alarm bells for the molecular clock? No support for Ho et al.'s model of time-dependent molecular rate estimates. Systematic Biology 56: 337–345. | |
| Gray M, Burger G and Lang B (1999) Mitochondrial evolution. Science 283: 1476–1481. | |
| Hasegawa M, Di Rienzo A, Kocher TD and Wilson AC (1993) Toward a more accurate time scale for the human mitochondrial DNA tree. Journal of Molecular Evolution 37: 347–354. | |
| Ho SYW, Philipps MJ, Cooper A and Drummond AJ (2005) Time dependency of molecular rate estimates and systematic overestimation of recent divergence times. Molecular Biology and Evolution 22: 1561–1568. | |
| Howell N, Smejkal CB, Mackey DA et al. (2003) The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. American Journal of Human Genetics 72: 659–670. | |
| Ingman M and Gyllensten U (2007) Rate variation between mitochondrial domains and adaptive evolution in humans. Human Molecular Genetics 16: 2281–2287. | |
| Ingman M, Kaessmann H, Pääbo S and Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408: 708–713. | |
| Jazin E, Soodyall H, Jalonen P et al. (1998) Mitochondrial mutation rate revisited: hot spots and polymorphism. Nature Genetics 18: 109–110. | |
| Kaneda H, Hayashi J-I, Takahama S et al. (1995) Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proceedings of the National Academy of Sciences of the USA 92: 4542–4546. | |
| Kivisild T, Shen P, Wall DP et al. (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172: 373–387. | |
| Kraytsberg Y, Schwartz M, Brown TA et al. (2004) Recombination of human mitochondrial DNA. Science 304: 981. | |
| Krings M, Stone A, Schmitz RW et al. (1997) Neanderthal DNA sequences and the origin of modern humans. Cell 90: 19–30. | |
| Kumar S, Hedrick PW, Dowling T and Stoneking M (2000) Questioning evidence for recombination in human mitochondrial DNA. Science 288: 1931a. | |
| Lahr M and Foley R (1998) Towards a theory of modern human origins: geography, demography, and diversity in recent human evolution. Yearbook of Physical Anthropology 41: 137–176. | |
| Leister D (2005) Origin, evolution and genetic effects of nuclear insertions of organelle DNA. Trends in Genetics 21: 655–663. | |
| Mishmar D, Ruiz-Pesini E, Golik P et al. (2003) Natural selection shaped regional mtDNA variation in humans. Proceedings of the National Academy of Sciences of the USA 100: 171–176. | |
| Nachman M and Crowell S (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297–304. | |
| Schwartz M and Vissing J (2002) Paternal inheritance of mitochondrial DNA. New England Journal of Medicine 347: 576–580. | |
| Stoneking M (1993) DNA and recent human evolution. Evolutionary Anthropology 2: 60–73. | |
| Stringer CB and Andrews P (1988) Genetic and fossil evidence for the origin of modern humans. Science 239: 1263–1268. | |
| Sutovsky P, Moreno R, Ramalho-Santos J et al. (2000) Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos. Biology of Reproduction 63: 582–590. | |
| Tully LA, Parsons TJ, Steighner RJ et al. (2000) A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. American Journal of Human Genetics 67: 432–443. | |
| Vigilant L, Stoneking M, Harpending H, Hawkes K and Wilson AC (1991) African populations and the evolution of human mitochondrial DNA. Science 253: 1503–1507. | |
| book Wolpoff MH (1992) "Theories of modern human origins". In: Bräuer G and Smith FH (eds) Continuity or Replacement: Controversies in Homo sapiens Evolution, pp. 25–63. Rotterdam: Balkema. | |
| Zischler H, Geisert H, von Haeseler A and Pääbo S (1995) A nuclear ‘fossil’ of the mitochondrial D-loop and the origin of modern humans. Nature 378: 489–492. | |
| Further Reading | |
| Clayton D (2000) Vertebrate mitochondrial DNA – a circle of surprises. Experimental Cell Research 255: 4–9. | |
| Excoffier L (2006) Neandertal genetic diversity: a fresh look from old samples. Current Biology 22: R650–R652. | |
| Falkenberg M, Larsson NG and Gustafsson CM (2007) DNA replication and transcription in mammalian mitochondria. Annual Review of Biochemistry 76: 679–699. | |
| Garesse R and Vallejo C (2001) Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes. Gene 263: 1–16. | |
| Garrigan D and Hammer MF (2006) Reconstructing human origins in the genomic era. Nature Reviews. Genetics 7: 669–680. | |
| Lang B, Gray M and Burger G (1999) Mitochondrial genome evolution and the origin of eucaryotes. Annual Review of Genetics 33: 351–397. | |
| Meikelejohn CD, Montooth KL and Rand DM (2007) Positive and negative selection on the mitochondrial genome. Trends in Genetics 23: 259–263. | |
| Pakendorf B and Stoneking M (2005) Mitochondrial DNA and human evolution. Annual Review of Genomics and Human Genetics 6: 165–183. | |
| Pedersen P (1999) Mitochondrial events in the life and death of animal cells: a brief overview. Journal of Bioenergetics and Biomembranes 31: 291–304. | |
| Torroni A, Achilli A, Macaulay V, Richards M and Bandelt H-J (2006) Harvesting the fruit of the human mtDNA tree. Trends in Genetics 22: 339–345. | |
| Wallace DC (2007) Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annual Review of Biochemistry 76: 781–821. | |
Copyright © 2000-2013 by John Wiley & Sons, Inc., or related companies. All rights reserved.
