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Am J Hum Genet. Jul 1996; 59(1): 185–203.
PMCID: PMC1915109

Paleolithic and neolithic lineages in the European mitochondrial gene pool.

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.

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Selected References

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  • Bandelt HJ, Forster P, Sykes BC, Richards MB. Mitochondrial portraits of human populations using median networks. Genetics. 1995 Oct;141(2):743–753. [PMC free article] [PubMed]
  • Barbujani G, Sokal RR, Oden NL. Indo-European origins: a computer-simulation test of five hypotheses. Am J Phys Anthropol. 1995 Feb;96(2):109–132. [PubMed]
  • Bendall KE, Sykes BC. 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]
  • Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 1995 Jan;59(Pt 1):63–81. [PubMed]
  • Castelloe J, Templeton AR. Root probabilities for intraspecific gene trees under neutral coalescent theory. Mol Phylogenet Evol. 1994 Jun;3(2):102–113. [PubMed]
  • Cavalli-Sforza LL, Menozzi P, Piazza A. Demic expansions and human evolution. Science. 1993 Jan 29;259(5095):639–646. [PubMed]
  • 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. [PubMed]
  • Handt O, Richards M, Trommsdorff M, Kilger C, Simanainen J, Georgiev O, Bauer K, Stone A, Hedges R, Schaffner W, et al. Molecular genetic analyses of the Tyrolean Ice Man. Science. 1994 Jun 17;264(5166):1775–1778. [PubMed]
  • 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]
  • Hudson RR, Boos DD, Kaplan NL. A statistical test for detecting geographic subdivision. Mol Biol Evol. 1992 Jan;9(1):138–151. [PubMed]
  • Lundstrom R, Tavaré S, Ward RH. Estimating substitution rates from molecular data using the coalescent. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5961–5965. [PMC free article] [PubMed]
  • Morin PA, Moore JJ, Chakraborty R, Jin L, Goodall J, Woodruff DS. Kin selection, social structure, gene flow, and the evolution of chimpanzees. Science. 1994 Aug 26;265(5176):1193–1201. [PubMed]
  • Nerurkar VR, Song KJ, Saitou N, Melland RR, 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. [PubMed]
  • Piercy R, Sullivan KM, 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. [PubMed]
  • 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]
  • Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus ML, Aula P, Beckman L, Tranebjaerg L, Gedde-Dahl T, et al. Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res. 1995 Aug;5(1):42–52. [PubMed]
  • Sherry ST, Rogers AR, 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]
  • Shields GF, Schmiechen AM, Frazier BL, Redd A, Voevoda MI, Reed JK, Ward RH. 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]
  • Sokal RR, Oden NL, Wilson C. Genetic evidence for the spread of agriculture in Europe by demic diffusion. Nature. 1991 May 9;351(6322):143–145. [PubMed]
  • Stoneking M, Hedgecock D, Higuchi RG, Vigilant L, Erlich HA. 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]
  • Stringer C. Palaeoanthropology. Secrets of the pit of the bones. Nature. 1993 Apr 8;362(6420):501–502. [PubMed]
  • 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]
  • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. 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]
  • Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC. African populations and the evolution of human mitochondrial DNA. Science. 1991 Sep 27;253(5027):1503–1507. [PubMed]
  • Walsh PS, Metzger DA, 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]
  • Ward RH, Frazier BL, 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. [PMC free article] [PubMed]

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