Abu-Amero, K.K. et al. (2007). Eurasian and African mitochondrial DNA influences in the Saudi Arabian population. BMC Evol Biol 1/7:32. The population of the Arabian Peninsula was the result of a Neolithic expansion from Western Asia and does not preserve any clear traces of mankind’s footsteps out of Africa.
Achilli, A. et al. (2004) The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. Am J Hum Genet. 2004 Nov;75(5):910-8. Divides haplogroup H into 15 subgroups, called H1-H15. H1 and H3 are most common.
Achilli, Alessandro et al. (2005). “Saami and Berbers—An Unexpected Mitochondrial DNA Link.” Am. J. Hum. Genet. 76:883-86.
Als, T. D. et al. (2006), “Highly Discrepant Proportions of Female and Male Scandinavian and British Isles Ancestry within the Isolated Population of the Faroe Islands,” European Journal of Human Genetics, 14 (4), 497-504.
Ballad, D. et al. Haplotype discrimination amongst three UK population groups using three multiplexes to type eleven Y chromosome STRs. Proceedings from the 19th international Congress. Progress in Forensic Genetics 9, 1239, 435-37 (2003). Extends the range of Y-chromosome STRs most commonly used in forensic analysis, with the addition of three recently reported STR markers: DYS437, 438, and 439 to give a total of 11 loci.
Bamshad, M; Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM, Prasad BV, Reddy PG, Rasanayagam A, Papiha SS, Villems R, Redd AJ, Hammer MF, Nguyen SV, Carroll ML, Batzer MA, Jorde LB (2001). “Genetic evidence on the origins of Indian caste populations“. Genome Research 11 (6): 994–1004. PMID 11381027
Barac, L. et al. (2004). Y chromosomal heritage of Croatian population and its island isolates. Eur J Hum Genet. 12(1):83. Good data on Balkan types.
Guido Barbujani and Giorgio Bertorelle (2001). “Genetics and the Population History of Europe.” PNAS 98/1:22-25. “Where do the genes of the Europeans come from, and when did they come in? We think the best answer is still: Mostly from the Levant, mostly in Neolithic times, but from other places and in other times as well.”
Belle, Elise M.S. et al. (2006). “Origins and Evolution of the Europeans’ Genome: Evidence from Multiple Microsatellite Loci. Proc. Royal Socy. 273/1594:1595-1602.
Berkman, C. C. et al. (2007). “Alu insertion polymorphisms and an assessment of the genetic contribution of Central Asia to Anatolia with respect to the Balkans,” American Journal of Physical Anthropology (online early) 10.1002.
Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 59 ( Pt 1):63-81.
Bosch, Elena et al (2001). “High-resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberia Peninsula,” American Journal of Human Genetics 68:1019-1029.
Burritt, Brian A. (n.d.) OmniPop 150.5 macro-enable Excel spreadsheet. Compares your CODIS profile to frequency in 170 populations worldwide. Downloadable at Published Population Data from a Variety of STR Systems.
Burritt, Brian A. (n.d.) Survey of STR Population Studies. Available online at Published Population Data from a Variety of STR Systems. Comparison of testing kits and marker sets for 365 published studies.
Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L (1996) From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks. Annals of Human Genetics 60:35-49.
Capelli, C. et al. (2003). “A Y Chromosome Census of the British Isles.” Current Biology 13:979–984.
Carvajal-Carmona, Luis G. et al (2000). Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia. Am. J. Hum. Genet. 67:1287-1295.
Comas, D. et al. (1998), Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet. 63(6): 1824–1838.
Côrte-Real H. B., Macaulay V.A., Richards M.B., Hariti G., Issad M.S., Cambon-Thomsen A., Papiha S., et al. (1996) Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Annals of Human Genetics 60:331-350
Cruciani, F. (2004). Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events within and Out of Africa. A. J. Hum. Genet. 74:1014-22.
Cruciani, F. et al. (2007). Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-chromosomal Haplogroups E-M78 and J-M12.
Di Giacomo, F. et al. (2004) Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe. Hum. Genet. 115:357-71.
Elson, J.L. et al. (2001) Analysis of European mtDNAs for recombination. Am. J. Hum. Genet. 68: 145-53.
Finnilä, S. et al. (2000) Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gen electrophoresis. Am. J. Hum. Genet. 68: 1475-84.
Francalacci P, Bertranpetit J, Calafell C, Underhill PA (1996) Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implication for the peopling of Europe. American Journal of Physical Anthropology 100(4):443-60.
Ghiani, E. M. et al. (2004). Y-chromosome 10 locus short tandem repeat haplotypes in a population sample from Sicily Italy. Leg Med (Tokyo) 6/2:89-96.
Gene, M. et al (1999). Haplotype Frequencies of Eight Y-chromosome STR loci in Barcelona (North-East Spain), Int. J. Legal Med. 112:403-405.
Gresham, D. et al. (2001) Origins and divergence of the Roma (gypsies). Am J Hum Genet. 69(6):1314-31. Analyzes 14 well-defined Gypsy populations.
Gusmao, L. et al. (2003) Grouping of Y-STR haplotypes discloses European geographic clines, Forensic Science International 134:172-179.
Hammer, M. F. et al (2001). Hierarchical Patterns of Global Human Y-chromosome Diversity. Mol. Biol. Evol. 18:1189-1203.
Heath, S. C. et al. (2008). “Investigation of the Fine Structure of European Populations with Applications to Disease Association Studies.” Euro J Hum Genet 16:1413-29.
Hill, C., Soares, P., Mormina, M., Macaulay, V., Clarke, D., Blumbach, P. B., Vizuete-Forster, M., Forster, P., Bulbeck, D., Oppenheimer, S., Richards, M. (2007) “A mitochondrial stratigraphy for island southeast Asia”. American Journal of Human Genetics. 80 (1): 29-43
Iovita, Radee P. and Theodore G. Schurr, (2004), “Reconstructing the Origins and Migrations of Diasporic Populations: the Case of European Gypsies”, American Anthropologist 106/2:267-281.
Izagirre, N. & de la Rua, C. (1999) An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe. Am J Hum Genet. 65(1):199-207.
Helgason, A. et al. (2001) mtDNA and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am. J. Hum. Genet. 68: 723-37.
Hill, E.W., et al. (2000). Y-chromosome Variation and Irish Origins. Nature 404:351-2.
Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, et al. (1995) Origins and affinities of modern humans: A comparison of mitochondrial and nuclear genetic data. American Journal of Human Genetics 57:523-538. Good source for French mtDNA haplotypes.
Kalaydjieva Luba et al. (2001). Genetic studies of the Roma (Gypsies): a review. BMC Medical Genetic s2:5
Kashyap, V.K. et al. (2006), Genetic structure of Indian populations based on fifteen autosomal microsatellite loci. BMC Genet. 7: 28.
Kayser, M. et al. (2001). Independent Histories of Human Y Chromosomes from Melanesia and Australia. Am J Hum Genet 68:173-90.
Karafet, Tatiana M. et al. (2008). “Human Y Chromosomal Haplogroup Tree.” Genome Res. published online April 2, 2008
King, Roy & Peter A. Underhill (2002) Congruent distribution of Neolithic painted pottery and ceramic figurines with Y-chromosome lineages. Antiquity 76:707-14.
Kivisild, T. et al. (1999) Deep common ancestry of Indian and western Eurasian mitochondrial lingeages. Brief Communication available at Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages
Kivisild, T., et al. (2002). The Emerging Limbs and Twigs of the East Asian mtDNA Tree. Mol Biol Evol 19:1737-51.
Kivisild, T., et al. (1999). The Place of the Indian mtDNA variants in the global network of maternal lineages and the peopling of the Old World. In: Genomic Diversity, ed. R. Deka et al. (Plenum), pp. 135-52.
Kong, Q.-P., et al. (2003). Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences. Am J Hum Genet 73:671-76.
Lalueza-Fox, C. et al. (2004). Unravelling Migrations in the Steppe: Mitochondrial DNA Sequences from Ancient Central Asians. Proc. R. Soc. Lond. B 271:941-47.
Lao, O. et al. (2008). “Correlation between Genetic and Geographic Structure in Europe.” Current Biology 18/16:1241-48. Summarized in “The Genetic Map of Europe,” by Nicholas Wade. New York Times (August 13, 2008). Available at The Genetic Map of Europe.
Loogväli et al. (2004). Disuniting uniformity: a pied-cladistic canvas of mtDNA haplogroup H in Eurasia. Molecular Biology and Evolution Advance Access July 14, 2004.
Lum, J. K. & Cann, R. L. mtDNA and language support a common origin of Micronesians and Polynesians in Island Southeast Asia” Am J Phys Anthropol 113: 151-68. mtDNA lineage analyses: origins and migrations of Micronesians and Polynesians.
Maca-Meyer, N. et al. (2004). Ancient mtDNA Analysis and the Origin of the Guanches. European J. Human Genetics 12:155-62.
Maca-Meyer, N. et al. (2003) Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain). Ann. Hum. Genet. 67:329-39.
Maca-Meyer, N. et al. (2001) Major genomic mitochondrial lineages delineate early human expansions BMC Genet. 2: 13. Published online 2001 August 13 and available at.
Macaulay, V. et al. (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am. J. Hum. Genet. 64: 232-49.
Macaulay, V. Vincent Macauley’s Home Page, available online at Vincent Macaulay. Links to the latest research on the mitochondrial ancestry of humans. Macaulay is a lecturer in statistics at the University of Glasgow and frequent co-author with Richards, Torroni and other leading population geneticists.
Malyarchuk, B.A., et al.(2002) Mitochondrial DNA Variability in Poles and Russians. Ann. Hum. Genet. 66:261-83.
Malyarchuk, B.A. et al. (2006). Mitochondrial DNA variability in the Czech population, with application to the ethnic history of Slavs. Hum Biol. 78/6:681-96. 3% East Eurasian DNA in Bohemia derives from Central Asian nomadic tribes during early Middle Ages.
Manwaring N, Jones MM, Wang JJ, Rochtchina E, Mitchell P, Sue CM. (2006). Prevalence of Mitochondrial DNA Haplogroups in an Australian population. Intern Med J. 36/8:530-3.
Martin, P. et al.(2003). Spanish population study of 17 Y-chromosome STR loci. Forensic Sci Int. 139/2-3:231-5. Contains references to previous studies of Spain.
McEvoy, B. et al. (2004). The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe . Am. J. Hum. Genet., 75:693-702.
Metspalu, M. et al. (2004) Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet. 5(1):26.
Nebel, A. et al. (2001) The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East Am. J. Hum. Genet., 69:1095-1112
Palanichamy, M. et al. (2004). Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia. Am J Hum Genet 75:966-78.
Passarino G. et al. (1998) Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet. 62(2):420-34. Confirms heavy Caucasoid influence, particularly in Y chromosomal lineages, with 60% of the Ethiopian gene pool having an African origin, whereas 40% is of Caucasoid derivation.
Passarino, G. et al. (1996) Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. Am J Hum Genet. 59(4):927-34. The major influence of Indo-Europeans was in the north and in the center of India. The divergence time of the Indian DdeI(10,394)AluI(10,397) (++) mtDNAs has been estimated to be 30,250-60,500 years, a value that is compatible with that of the homologous East Asian lineage.
Pereira, L. et al. (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann. Hum. Genet. 64:491-506.
Pereira, L. et al. (2005). High-resolution mtDNA Evidence for the Late-Glacial Resettlement of Europe from an Iberian Refugium. Genome Research 15:19-24.
Pike, D. A. (2006) “Phylogenetic networks for the human mtDNA haplogroup T”. Journal of Genetic Genealogy. 2 (1): 1-11.
Ploski R. et al. (2002) Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis. Hum Genet 110(6):592-600. Abstract
Price, A. L. et al. (2008). “Discerning the Ancestry of European Americans in Genetic Association Studies.” PLoS Genetics. Available at Discerning the Ancestry of European Americans in Genetic Association Studies.
Rando, J.C., et al. (1998). Mitochondrial DNA Analysis of Northwest African Populations Reveals Genetic Exchanges with European, Near-Eastern, and Sub-Saharan Populations. Ann Hum Genet 62:531-50.
Reidla, M. (2003) Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet. 73(5):1178-90.
Renfrew, C. et al., eds. (2000). Archaeologenetics: DNA and the Population Prehistory of Europe. Cambridge: McDonald Institute.
Richard, C. (2007). An mtDNA perspective of French genetic variation. Ann Hum Biol. 34/1:68-79. France as whole does not differ significantly from surrounding countries, but certain populations are distinctive such as the Basques (high H) and Bretons (close to British and Scandinavian).
Richards, M. et al. (1998) Phylogeography of mitochondrial DNA in western Europe. Ann. Hum. Genet. 62:241-60.
Richards, M. et al. (2000). Tracing European founder lineages in the Near Eastern mtDNA pool. Am. J. Hum. Genet. 67: 1251-1276.
Richards, M. et al. (2000) Supplementary Data. Available online at Supplementary data from Richards et al. (2000)
Rosser, Z.H. et al. (2000). Y-chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather Than by Language. Am. J. Hum. Genet. 67:1526-43.
Saha, A; Sharma S, Bhat A, Pandit A, Bamezai R (2005). “Genetic affinity among five different population groups in India reflecting a Y-chromosome gene flow”. J. Hum. Genet. 50 (1): 49–51. PMID 15611834.
Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus M-L, Aula P, et al. (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Research 5:42-52
Schurr, T. et al. (2003) Mitochondrial DNA diversity in Southeast Asian populations.
Hum Biol. 2002 Jun;74(3):431-52.
Semino, O. et al. (2004) Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet. 74(5):1023-34.
Semino, O. et al. (2000). The Genetic Legacy of Homo Sapiens Sapiens in Extant Europeans. Science 290:1155-59.
Su, B. et al. (1999) Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age. Am. J. Hum. Genet., 65:1718-1724.
Tajima A, Sun CS, Pan IH, Ishida T, Saitou N, Horai S. (2003) Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese. Hum Genet. 113(1):24-33. Includes all nine aboriginal Taiwanese groups: Atayal, Saisiat, Bunun, Tsou, Rukai, Paiwan, Ami, Puyuma, and Yami. The maternal gene pool of aboriginal Taiwanese is primarily haplogroup C.
Tanaka, M. et al. (2004). Mitochondrial Genome Variation in Eastern Asia and the Peopling of Japan. Gen Res 14:1842-50.
Terreros, M.C. et al. (2007), “North Indian Muslims: Enclaves of Foreign DNA or Hindu Converts?” Am J Phys Anthropol. 133 (3):1004-12. They were Hindu converts.
Thomas, Mark G. et al. (2008). New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East. European Journal of Human Genetics 16:124–134.
Torroni, A. et al. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144: 1835-50.
Torroni A, Bandelt HJ, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus ML, Bonne-Tamir B, and Scozzari R (1998) mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. American Journal of Human Genetics 62:1137-1152.
Trejaut, J.A., Sr. et al. (unpublished). Polynesian Maternal Lineages Trace Their Origin Back to Taiwanese Aboriginal Populations.
Underhill, P.A. et al (2001) Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific. Hum Mutat. 17(4):271-80.
Underhill, P.A. et al (2001). The Phylogeography of Y Chromosome Binary Haplotypes and the Origins of Modern Human Populations. Ann. Hum. Genet. 65:43-62.
Vallone, P.M., Decker, A.E., Butler, J.M. (2004). Allele frequencies for 70 autosomal SNP loci with U.S. Caucasian, African American, and Hispanic samples, Forensic Sci. Int., in press.
van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30(2):E386-E394. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
Weale, M.E., et al. (2002). Y Chromosome Evidence for Anglo-Saxon Mass Migration. Mol. Biol. Evol. 19:1008-10021.
Wilson, J.F. et al. (2001) Genetic evidence for different male and female roles during cultural transitions in the British Isles. PNAS 98/9:5078-83.
“Y Haplogroup I.” (Notes by Dennis Garvey and data from Cinnioglu.)
Yao, Y.-G., et al. (2002). Genetic Relationship of Chinese Ethnic Populations Revealed by mtDNA Sequence Diversity. Am J Phys Anthropol 118:63-76.