Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1996 Jul;59(1):185–203.

Paleolithic and neolithic lineages in the European mitochondrial gene pool.

M Richards 1, H Côrte-Real 1, P Forster 1, V Macaulay 1, H Wilkinson-Herbots 1, A Demaine 1, S Papiha 1, R Hedges 1, H J Bandelt 1, B Sykes 1
PMCID: PMC1915109  PMID: 8659525

Abstract

Phylogenetic and diversity analysis of the mtDNA control region sequence variation of 821 individuals from Europe and the Middle East distinguishes five major lineage groups with different internal diversities and divergence times. Consideration of the diversities and geographic distribution of these groups within Europe and the Middle East leads to the conclusion that ancestors of the great majority of modern, extant lineages entered Europe during the Upper Paleolithic. A further set of lineages arrived from the Middle East much later, and their age and geographic distribution within Europe correlates well with archaeological evidence for two culturally and geographically distinct Neolithic colonization events that are associated with the spread of agriculture. It follows from this interpretation that the major extant lineages throughout Europe predate the Neolithic expansion and that the spread of agriculture was a substantially indigenous development accompanied by only a relatively minor component of contemporary Middle Eastern agriculturalists. There is no evidence of any surviving Neanderthal lineages among modern Europeans.

Full text

PDF

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bandelt H. J., Forster P., Sykes B. C., Richards M. B. Mitochondrial portraits of human populations using median networks. Genetics. 1995 Oct;141(2):743–753. doi: 10.1093/genetics/141.2.743. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barbujani G., Sokal R. R., Oden N. L. Indo-European origins: a computer-simulation test of five hypotheses. Am J Phys Anthropol. 1995 Feb;96(2):109–132. doi: 10.1002/ajpa.1330960202. [DOI] [PubMed] [Google Scholar]
  3. Bendall K. E., Sykes B. C. Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet. 1995 Aug;57(2):248–256. [PMC free article] [PubMed] [Google Scholar]
  4. Bertranpetit J., Sala J., Calafell F., Underhill P. A., Moral P., Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 1995 Jan;59(Pt 1):63–81. doi: 10.1111/j.1469-1809.1995.tb01606.x. [DOI] [PubMed] [Google Scholar]
  5. Castelloe J., Templeton A. R. Root probabilities for intraspecific gene trees under neutral coalescent theory. Mol Phylogenet Evol. 1994 Jun;3(2):102–113. doi: 10.1006/mpev.1994.1013. [DOI] [PubMed] [Google Scholar]
  6. Cavalli-Sforza L. L., Menozzi P., Piazza A. Demic expansions and human evolution. Science. 1993 Jan 29;259(5095):639–646. doi: 10.1126/science.8430313. [DOI] [PubMed] [Google Scholar]
  7. Graven L., Passarino G., Semino O., Boursot P., Santachiara-Benerecetti S., Langaney A., Excoffier L. Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol. 1995 Mar;12(2):334–345. doi: 10.1093/oxfordjournals.molbev.a040206. [DOI] [PubMed] [Google Scholar]
  8. Handt O., Richards M., Trommsdorff M., Kilger C., Simanainen J., Georgiev O., Bauer K., Stone A., Hedges R., Schaffner W. Molecular genetic analyses of the Tyrolean Ice Man. Science. 1994 Jun 17;264(5166):1775–1778. doi: 10.1126/science.8209259. [DOI] [PubMed] [Google Scholar]
  9. Horai S., Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed] [Google Scholar]
  10. Hudson R. R., Boos D. D., Kaplan N. L. A statistical test for detecting geographic subdivision. Mol Biol Evol. 1992 Jan;9(1):138–151. doi: 10.1093/oxfordjournals.molbev.a040703. [DOI] [PubMed] [Google Scholar]
  11. Lundstrom R., Tavaré S., Ward R. H. Estimating substitution rates from molecular data using the coalescent. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5961–5965. doi: 10.1073/pnas.89.13.5961. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Morin P. A., Moore J. J., Chakraborty R., Jin L., Goodall J., Woodruff D. S. Kin selection, social structure, gene flow, and the evolution of chimpanzees. Science. 1994 Aug 26;265(5176):1193–1201. doi: 10.1126/science.7915048. [DOI] [PubMed] [Google Scholar]
  13. Nerurkar V. R., Song K. J., Saitou N., Melland R. R., Yanagihara R. Interfamilial and intrafamilial genomic diversity and molecular phylogeny of human T-cell lymphotropic virus type I from Papua New Guinea and the Solomon Islands. Virology. 1993 Oct;196(2):506–513. doi: 10.1006/viro.1993.1506. [DOI] [PubMed] [Google Scholar]
  14. Piercy R., Sullivan K. M., Benson N., Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med. 1993;106(2):85–90. doi: 10.1007/BF01225046. [DOI] [PubMed] [Google Scholar]
  15. Pult I., Sajantila A., Simanainen J., Georgiev O., Schaffner W., Päbo S. Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem Hoppe Seyler. 1994 Dec;375(12):837–840. [PubMed] [Google Scholar]
  16. Sajantila A., Lahermo P., Anttinen T., Lukka M., Sistonen P., Savontaus M. L., Aula P., Beckman L., Tranebjaerg L., Gedde-Dahl T. Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res. 1995 Aug;5(1):42–52. doi: 10.1101/gr.5.1.42. [DOI] [PubMed] [Google Scholar]
  17. Sherry S. T., Rogers A. R., Harpending H., Soodyall H., Jenkins T., Stoneking M. Mismatch distributions of mtDNA reveal recent human population expansions. Hum Biol. 1994 Oct;66(5):761–775. [PubMed] [Google Scholar]
  18. Shields G. F., Schmiechen A. M., Frazier B. L., Redd A., Voevoda M. I., Reed J. K., Ward R. H. mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet. 1993 Sep;53(3):549–562. [PMC free article] [PubMed] [Google Scholar]
  19. Sokal R. R., Oden N. L., Wilson C. Genetic evidence for the spread of agriculture in Europe by demic diffusion. Nature. 1991 May 9;351(6322):143–145. doi: 10.1038/351143a0. [DOI] [PubMed] [Google Scholar]
  20. Stoneking M., Hedgecock D., Higuchi R. G., Vigilant L., Erlich H. A. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet. 1991 Feb;48(2):370–382. [PMC free article] [PubMed] [Google Scholar]
  21. Stringer C. Palaeoanthropology. Secrets of the pit of the bones. Nature. 1993 Apr 8;362(6420):501–502. doi: 10.1038/362501a0. [DOI] [PubMed] [Google Scholar]
  22. Sykes B., Leiboff A., Low-Beer J., Tetzner S., Richards M. The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am J Hum Genet. 1995 Dec;57(6):1463–1475. [PMC free article] [PubMed] [Google Scholar]
  23. Torroni A., Lott M. T., Cabell M. F., Chen Y. S., Lavergne L., Wallace D. C. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet. 1994 Oct;55(4):760–776. [PMC free article] [PubMed] [Google Scholar]
  24. Vigilant L., Stoneking M., Harpending H., Hawkes K., Wilson A. C. African populations and the evolution of human mitochondrial DNA. Science. 1991 Sep 27;253(5027):1503–1507. doi: 10.1126/science.1840702. [DOI] [PubMed] [Google Scholar]
  25. Walsh P. S., Metzger D. A., Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 1991 Apr;10(4):506–513. [PubMed] [Google Scholar]
  26. Ward R. H., Frazier B. L., Dew-Jager K., Päbo S. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720–8724. doi: 10.1073/pnas.88.19.8720. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES