Nature 378, 489 - 492 (30 November 1995); doi:10.1038/378489a0

A nuclear 'fossil' of the mitochondrial D-loop and the origin of modern humans

Hans Zischler, Helga Geisert, Arndt von Haeseler & Svante Pääbo

Zoologisches Institut der Universität München, PO Box 202136, D-80021 München, Germany

MAMMALIAN mitochondria! DNA sequences evolve more rapidly than nuclear sequences¹. Although the rapid rate of evolution is an advantage for the study of closely related species and populations, it presents a problem in situations where related species, used as outgroups in phylogenetic analyses, have accumulated so much change that multiple substitutions obliterate the phylogenetic information². However, mitochondrial DNA sequences are frequently inserted into the nuclear genome³, where they presumably evolve as nuclear pseudogene sequences and therefore more slowly than their mitochondria! counterparts. Such sequences thus represent molecular 'fossils' that could shed light on the evolution of the mitochondrial genome and could be used as outgroups in situations where no appropriate outgroup species exist. Here we show that human chromosome 11 carries a recent integration of the mitochondrial control region that can be used to gain further insight into the origin of the human mitochondrial gene pool.

References

1.	Brown, W. M., Prager, E. M., Wang, A. & Wilson, A. C. J. molec. Evol. 18, 225−239 (1982). | PubMed | ISI | ChemPort |
2.	Maddison, D. R., Ruvolo, M. & Swofford, D. L. Syst. Biol. 41, 111−124 (1992). | ISI |
3.	Zullo, S., Sieu, L. L., Slightom, J. L., Hadler, H. I. & Eisenstadt, J. M. J. molec. Biol. 221, 1223−1235 (1991). | PubMed | ChemPort |
4.	Cann, R. L., Stoneking, M. & Wilson, A. C. Nature 325, 31−36 (1987). | Article | PubMed | ISI | ChemPort |
5.	Vigilant, L., Stoneking, M., Harpending, H., Hawkes, K. & Wilson, A. C. Science 253, 1503−1507 (1991). | PubMed | ISI | ChemPort |
6.	Templeton, A. R. Science 255, 737 (1992). | PubMed | ISI | ChemPort |
7.	Hedges, S. B., Kumar, S., Tamura, K. & Stoneking, M. Science 255, 737−739 (1992). | PubMed | ISI | ChemPort |
8.	Maddison, D. R. Syst. Zool. 40, 355−363 (1991). | ISI |
9.	Ruvolo, M., Disotell, T. R., Allard, M. W., Brown, W. M. & Honeycutt, R. L. Proc. natn. Acad. Sci. U.S.A 88, 1570−1574 (1991). | ChemPort |
10.	Gill, P., Jeffreys, A. J. & Werrett, D. J. Nature 318, 577−579 (1985). | Article | PubMed | ISI | ChemPort |
11.	Anderson, S. et al. Nature 290, 457−465 (1981). | Article | PubMed | ISI | ChemPort |
12.	Tapper, D. P. & Clayton, D. A. J. biol. Chem. 256, 5106−5115 (1981).
13.	Doda, J. N., Wright, C. T. & Clayton, D. A. Proc. natn. Acad. Sci. U.S.A. 78, 6116−6120 (1981). | ChemPort |
14.	Pult, I. et al. Biol. Chem. Hoppe-Seyler 375, 837−840 (1994). | PubMed | ChemPort |
15.	Nei, M. Molecular Evolutionary Genetics (Columbia Univ. Press, New York, 1987).
16.	Ward, R. H., Frazier, B. L., Dew-Jager, K. & Pääbo, S. Proc. natn. Acad. Sci. U.S.A. 88, 8720−8724 (1991). | ChemPort |
17.	Lundstrom, R., Tavaré, S. & Ward, R. H. Proc. natn. Acad. Sci. U.S.A. 89, 5961−5965 (1992). | ChemPort |
18.	Morin, P. A., Moore, J. J., Chakraborty, R., Jin, L., Goodall, J. & Woodruff, D. S. Science 285, 1193−1201 (1994).
19.	Sambrook, J., Fritch, E. F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, New York, 1989).
20.	Pena, S. D. J. et al. Proc. natn. Acad. Sci. U.S.A. 91, 1946−1949 (1994). | ChemPort |
21.	Felsenstein, J. Phylip version 3.5p (Univ. Washington, Seattle, 1994).