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Biodiversity Hotspots pp 97–119Cite as

Genetic Basis of Human Biodiversity: An Update

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Abstract

The massive efforts to study the human genome in detail have produced extraordinary amounts of genetic data. Although we still fail to understand the molecular bases of most complex traits, including many common diseases, we now have a clearer idea of the degree of genetic resemblance between humans and other primate species. We also know that humans are genetically very close to each other, indeed more than any other primates, that most of our genetic diversity is accounted for by individual differences within populations, and that only a small fraction of the species’ genetic variance falls between populations and geographic groups thereof. However, population differences are large enough for patterns to emerge, and these patterns have been extremely useful to reconstruct the history of human migration and to recognise the effects of reproductive isolation. In many cases, crucial information about human demographic history has emerged from multidisciplinary analyses, which have stressed the importance of cultural, as well as geographical, barriers in causing local divergence of populations.

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References

  • Ahn SM, Kim TH, Lee S, Kim D, Ghang H, Kim DS, Kim BC, Kim SY, Kim WY, Kim C et al (2009) The first Korean genome sequence and analysis: full genome sequencing for a socio ethnic group. Genome Res 19:1622–1629

    PubMed  CAS  Google Scholar 

  • Auton A, Bryc K, Boyko AR et al (2009) Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res 19:795–803

    PubMed  CAS  Google Scholar 

  • Barbujani G (2005) Human races: classifying people vs. understanding diversity. Curr Genomics 6:215–226

    CAS  Google Scholar 

  • Barbujani G, Belle EMS (2006) Genomic boundaries between human populations. Hum Hered 61:15–21

    PubMed  Google Scholar 

  • Barbujani G, Colonna V (2010) Human genome diversity: frequently asked questions. Trends Genet 26:285–295

    Google Scholar 

  • Barbujani G, Magagni A, Minch E, Cavalli-Sforza LL (1997) An apportionment of human DNA diversity. Proc Natl Acad Sci USA 94:4516–4519

    PubMed  CAS  Google Scholar 

  • Barbujani G, Pilastro A (1993) Genetic evidence on origin and dispersal of human populations speaking languages of the Nostratic macrofamily. Proc Natl Acad Sci USA 90:4670–4673

    PubMed  CAS  Google Scholar 

  • Barbujani G, Sokal RR (1990) Zones of sharp genetic change in Europe are also linguistic boundaries. Proc Natl Acad Sci USA 87:1816–1819

    PubMed  CAS  Google Scholar 

  • Balaresque PL, Ballereau SJ, Jobling MA (2007) Challenges in human genetic diversity: demographic history and adaptation. Hum Mol Genet 16(2):R134–R139

    PubMed  CAS  Google Scholar 

  • Barreiro LB, Laval G, Quach H, Patin E, Quintana-Murci L (2008) Natural selection has driven population differentiation in modern humans. Nat Genet 40:340–345

    PubMed  CAS  Google Scholar 

  • Bastos-Rodrigues L, Pimenta JR, Pena SDJ (2006) The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann Hum Genet 70:658–665

    PubMed  Google Scholar 

  • Belle EMS, Barbujani G (2007) A worldwide analysis of multiple microsatellites suggests that language diversity has a detectable influence on DNA diversity. Am J Phys Anthropol 133:1137–1146

    PubMed  Google Scholar 

  • Belle EM, Benazzo A, Ghirotto S, Colonna V, Barbujani G (2009) Comparing models on the genealogical relationships among Neandertal, Cro-Magnoid and modern Europeans by serial coalescent simulations. Heredity 102:218–225

    PubMed  CAS  Google Scholar 

  • Benson DA, Karsch-Mizrachi I, Lipman DJ, Ostell J, Sayers EW (2010) GenBank. Nucl Acids Res 38:D46–D51

    PubMed  CAS  Google Scholar 

  • Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR et al (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456:53–59

    PubMed  CAS  Google Scholar 

  • Bernasconi R, Lott TL (2000) The idea of race. Hackett, Indianapolis/Cambridge

    Google Scholar 

  • Biswas S, Scheinfeldt LB, Akey JM (2009) Genome-wide insights into the patterns and determinants of fine-scale population structure in humans. Am J Hum Genet 84:641–645

    PubMed  CAS  Google Scholar 

  • Brown RA, Armelagos GJ (2001) Apportionment of racial diversity: a review. Evol Anthropol 10:34–40

    Google Scholar 

  • Bryc K, Auton A, Nelson MR, Oksenberg JR, Hauser SL, Williams S, Froment A, Bodo JM, Wambebe C, Tishkoff SA, Bustamante CD (2010) Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proc Natl Acad Sci USA 107:786–791

    PubMed  CAS  Google Scholar 

  • Calafell F, Bertranpetit J (1994) Principal component analysis of gene frequencies and the origin of Basques. Am J Phys Anthropol 93:201–215

    PubMed  CAS  Google Scholar 

  • Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, Bodmer J, Bodmer WF, Bonne-Tamir B, Cambon-Thomsen A et al (2002) A human genome diversity cell line panel. Science 296:261–262

    PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL (1966) Population structure and human evolution. Proc R Soc Lond B Biol Sci 164:362–379

    PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL (2005) The Human Genome Diversity Project: past, present and future. Nat Rev Genet 6(4):333–340

    PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL, Edwards AWF (1967) Phylogenetic analysis: models and estimation procedures. Am J Hum Genet 19:233–257

    PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton

    Google Scholar 

  • Cavalli-Sforza LL, Piazza A, Menozzi P, Mountain J (1988) Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data. Proc Natl Acad Sci USA 85:6002–6006

    PubMed  CAS  Google Scholar 

  • Chen J, Sokal RR, Ruhlen M (1995) Worldwide analysis of genetic and linguistic relationships of human populations. Hum Biol 67:595–612

    PubMed  CAS  Google Scholar 

  • Chen J, Zheng H, Bei JX, Sun L, Jia WH, Li T, Zhang F, Seielstad M, Zeng YX, Zhang X, Liu J (2009) Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am J Hum Genet 85(6):775–785

    PubMed  CAS  Google Scholar 

  • Cheng Z, Ventura M, She X, Khaitovich P, Graves T, Osoegawa K, Church D, DeJong P, Wilson RK, Pääbo S et al (2005) A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature 437:88–93

    PubMed  CAS  Google Scholar 

  • Chikhi L, Destro-Bisol G, Bertorelle G, Pascali V, Barbujani G (1998) Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool. Proc Natl Acad Sci USA 95:9053–9058

    PubMed  CAS  Google Scholar 

  • Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69–87

    Google Scholar 

  • Cohen C (1991) Les races humaines en histoire des sciences. In: Hublin JJ, Tillier AM (eds) Aux origines d’Homo sapiens. Presses Universitaries de France, Paris, pp 9–47

    Google Scholar 

  • Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, Absher D, Myers RM, Cavalli-Sforza LL, Feldman MW, Pritchard JK (2009) The role of geography in human adaptation. PLoS Genet 5:e1000500

    PubMed  Google Scholar 

  • Corander J, Waldmann P, Marttinen P, Sillanpää MJ (2004) BAPS 2: enhanced possibilities for the analysis of genetic population structure. Bioinformatics 20(15):2363–2369

    PubMed  CAS  Google Scholar 

  • Cordaux R, Aunger R, Bentley G, Nasidze I, Sirajuddin SM, Stoneking M (2004) Independent origins of Indian caste and tribal paternal lineages. Curr Biol 14:231–235

    PubMed  CAS  Google Scholar 

  • Currat M, Excoffier L (2004) Modern humans did not admix with Neanderthals during their range expansion into Europe. PLoS Biol 2:e421

    PubMed  Google Scholar 

  • Darwin CR (1871) Descent of man and selection in relation to sex. John Murray, London

    Google Scholar 

  • Degiorgio M, Jakobsson M, Rosenberg NA (2009) Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa. Proc Natl Acad Sci USA 106:16057–16062

    PubMed  CAS  Google Scholar 

  • de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857–865

    PubMed  Google Scholar 

  • Deshpande O, Batzoglou S, Feldman MW, Cavalli-Sforza LL (2009) A serial founder effect model for human settlement out of Africa. Proc Biol Sci 276:291–300

    PubMed  Google Scholar 

  • Diamond J, Bellwood P (2003) Farmers and their languages: the first expansions. Science 300:597–603

    PubMed  CAS  Google Scholar 

  • Dobzhansky T (1967) On types, genotypes, and the genetic diversity in populations. In: Spuhler JN (ed) Genetic diversity and human behavior. Wenner-Gren Foundation for Anthropological Research, New York, pp 1–19

    Google Scholar 

  • Edwards AWF (2003) Human genetic diversity: Lewontin’s fallacy. Bioessays 25:798–801

    PubMed  CAS  Google Scholar 

  • Enattah NS, Jensen TG, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, El-Shanti H, Seo JK, Alifrangis M, Khalil IF et al (2008) Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. Am J Hum Genet 82:57–72

    PubMed  CAS  Google Scholar 

  • Excoffier L, Hamilton G (2003) Comment on “Genetic structure of human populations”. Science 300:1877

    PubMed  CAS  Google Scholar 

  • Excoffier L, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491

    PubMed  CAS  Google Scholar 

  • Fagundes NJ, Ray N, Beaumont M, Neuenschwander S, Salzano FM, Bonatto SL, Excoffier L (2007) Statistical evaluation of alternative models of human evolution. Proc Natl Acad Sci USA 104:17614–17619

    PubMed  CAS  Google Scholar 

  • Fischer A, Wiebe V, Pääbo S, Przeworski M (2004) Evidence for a complex demographic history of chimpanzees. Mol Biol Evol 5:799–808

    Google Scholar 

  • Fischer A, Pollack J, Thalmann O, Nickel B, Paabo S (2006) Demographic history and genetic differentiation in apes. Curr Biol 16:1133–1138

    PubMed  CAS  Google Scholar 

  • Foley R (1998) The context of human genetic evolution. Genome Res 8:339–347

    PubMed  CAS  Google Scholar 

  • Frazer KA, Murray SS, Schork NJ, Topol EJ (2009) Human genetic variation and its contribution to complex traits. Nat Rev Genet 10:241–251

    PubMed  CAS  Google Scholar 

  • Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M et al (2002) The structure of haplotype blocks in the human genome. Science 296(5576):2225–2229

    PubMed  CAS  Google Scholar 

  • Gagneux P, Varki A (2001) Genetic differences between humans and great apes. Mol Phylogenet Evol 18:2–13

    PubMed  CAS  Google Scholar 

  • Garcia-Bailo B, Toguri C, Eny KM, El-Sohemy A (2009) Genetic variation in taste and its influence on food selection. OMICS 13:69–80

    PubMed  CAS  Google Scholar 

  • Ghirotto S, Tassi F, Benazzo A, Barbujani G (2011) No evidence of Neandertal admixture in the mitochondrial genomes of early European modern humans and contemporary Europeans. Am J Phys Anthropol (in the press)

    Google Scholar 

  • Glasgow J (2009) A theory of race. Routledge, New York and London

    Google Scholar 

  • Glatt SJ, Chayavichitsilp P, Schork NJ, Jeste DV (2007) Successful aging: from phenotype to genotype. Biol Psychiatry 62:282–293

    PubMed  CAS  Google Scholar 

  • Goebel T, Waters MR, O'Rourke DH (2008) The late Pleistocene dispersal of modern humans in the Americas. Science 319:1497–1502

    PubMed  CAS  Google Scholar 

  • Goldman D, Giri PR, O’Brien SJ (1987) A molecular phylogeny of the hominoid primates as indicated by two-dimensional protein electrophoresis. Proc Natl Acad Sci USA 84:3307–3311

    PubMed  CAS  Google Scholar 

  • Goldstein DB (2009) Common genetic variation and human traits. N Engl J Med 360:1696–1698

    PubMed  CAS  Google Scholar 

  • Green RE, Krause J, Briggs AW, Maricic T, Stenzel U, Kircher M, Patterson N, Li H, Zhai W, Fritz MH, et al. (2010) A draft sequence of the Neandertal genome. Science 328:710–722

    Google Scholar 

  • Greenberg JH, Turner CG, Zegura SL (1986) The settlement of the Americas: a comparison of the linguistic, dental and genetic evidence. Curr Anthropol 27:477–497

    Google Scholar 

  • Harris EE, Meyer D (2006) The molecular signature of selection underlying human adaptations. Am J Phys Anthropol 43:89–130

    PubMed  Google Scholar 

  • Heyer E, Balaresque P, Jobling MA, Quintana-Murci L, Chaix R, Segurel L, Aldashev A, Hegay T (2009) Genetic diversity and the emergence of ethnic groups in Central Asia. BMC Genet 10:49

    PubMed  Google Scholar 

  • Hofer T, Ray N, Wegmann D, Excoffier L (2009) Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection. Ann Hum Genet 73:95–108

    PubMed  CAS  Google Scholar 

  • Hunley KL, Cabana GS, Merriwether DA, Long JC (2007) A formal test of linguistic and genetic coevolution in native Central and South America. Am J Phys Anthropol 132(4):622–631

    PubMed  CAS  Google Scholar 

  • Hunley KL, Healy ME, Long JC (2009) The global pattern of gene identity variation reveals a history of long-range migrations, bottlenecks, and local mate exchange: implications for biological race. Am J Phys Anthropol 139:35–46

    PubMed  Google Scholar 

  • Hunley K, Long JC (2005) Gene flow across linguistic boundaries in native North American populations. Proc Natl Acad Sci USA 102:1312–1317

    PubMed  CAS  Google Scholar 

  • Indian Genome Variation Consortium (2008) Genetic landscape of the people of India: a canvas for disease gene exploration. J Genet 87:3–20

    Google Scholar 

  • International Hap Map Consortium (2005) A haplotype map of the human genome. Nature 437:1299–1320

    Google Scholar 

  • International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409:860–921

    Google Scholar 

  • Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R et al (2008) Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451:998–1003

    PubMed  CAS  Google Scholar 

  • Jauch A, Wienberg J, Stanyon R, Arnold N, Tofanelli S, Ishida T, Cremer T (1992) Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting. Proc Natl Acad Sci USA 89:8611–8615

    PubMed  CAS  Google Scholar 

  • Jorde LB, Watkins WS, Bamshad MJ, Dixon ME, Ricker CE, Seielstad MT, Batzer MA (2000) The distribution of human genetic diversity: a comparison of mitochondrial, autosomal and Y-chromosome data. Am J Hum Genet 66:979–988

    PubMed  CAS  Google Scholar 

  • Kaessmann H, Wiebe V, Weiss G, Paabo S (2001) Great ape DNA sequences reveal a reduced diversity and an expansion in humans. Nat Genet 27:155–156

    PubMed  CAS  Google Scholar 

  • Kehrer-Sawatzki H, Cooper DN (2007) Structural divergence between the human and chimpanzee genomes. Hum Genet 120:759–778

    PubMed  CAS  Google Scholar 

  • Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ et al (2009) A highly annotated whole-genome sequence of a Korean individual. Nature 460:1011–1015

    PubMed  CAS  Google Scholar 

  • Krause J, Fu Q, Good JM, Viola B, Shunkov MB, Derevianko AP, Pääbo S (2010) The complete mitochondrial DNA genome of an unknown hominin from southern Siberia. Nature 464:894–897

    PubMed  CAS  Google Scholar 

  • Lahr MM, Foley R (1994) Multiple dispersals and modern human origins. Evol Anthropol 3:48–60

    Google Scholar 

  • Latter BDH (1980) Genetic differences within and between populations of the major human subgroups. Am Nat 116:220–237

    Google Scholar 

  • Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G et al (2007) The diploid genome sequence of an individual human. PLoS Biol 5:e254

    PubMed  Google Scholar 

  • Lewontin RC (1972) The apportionment of human diversity. Evol Biol 6:381–398

    Google Scholar 

  • Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM (2008) Worldwide human relationships inferred from genome-wide patterns of variation. Science 319:1100–1104

    PubMed  CAS  Google Scholar 

  • Linz B, Balloux F, Moodley Y, Manica A, Liu H, Roumagnac P, Falush D, Stamer C, Prugnolle F, van der Merwe SW et al (2007) An African origin for the intimate association between humans and Helicobacter pylori. Nature 445:915–918

    PubMed  Google Scholar 

  • Liu H, Prugnolle F, Manica A, Balloux F (2006) A geographically explicit genetic model of worldwide human-settlement history. Am J Hum Genet 79:230–237

    PubMed  CAS  Google Scholar 

  • Livingstone FB (1962) On the nonexistence of human races. Curr Anthropol 3:279–281

    Google Scholar 

  • Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F et al (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308:1034–1036

    PubMed  CAS  Google Scholar 

  • Madrigal L, Barbujani G (2007) Partitioning of genetic variation in human populations and the concept of race. In: Crawford MH (ed) Anthropological genetics. Theory, methods and applications. Cambridge University Press, Cambridge, pp 19–37

    Google Scholar 

  • Manica A, Amos W, Balloux F, Hanihara T (2007) The effect of ancient population bottlenecks on human phenotypic variation. Nature 448:346–348

    PubMed  CAS  Google Scholar 

  • Marques-Bonet T, Girirajan S, Eichler EE (2009a) The origins and impact of primate segmental duplications. Trends Genet 25:443–454

    PubMed  CAS  Google Scholar 

  • Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA et al (2009b) A burst of segmental duplications in the genome of the African great ape ancestor. Nature 457:877–881

    PubMed  CAS  Google Scholar 

  • McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC et al (2009) Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19:1527–1541

    PubMed  CAS  Google Scholar 

  • Menozzi P, Piazza A, Cavalli-Sforza L (1978) Synthetic maps of human gene frequencies in Europeans. Science 201:786–792

    PubMed  CAS  Google Scholar 

  • Meyer D, Single RM, Mack SJ, Erlich HA, Thomson G (2006) Signatures of demographic history and natural selection in the human major histocompatibility complex Loci. Genetics 173:2121–2142

    PubMed  CAS  Google Scholar 

  • Molnar S (1998) Human variation. Races, types, and ethnic groups, 4th edn. Prentice Hall, Upper Saddle River, NJ

    Google Scholar 

  • Nettle D, Harriss L (2003) Genetic and linguistic affinities between human populations in Eurasia and West Africa. Hum Biol 75:331–344

    PubMed  Google Scholar 

  • Novembre J, Di Rienzo A (2009) Spatial patterns of variation due to natural selection in humans. Nat Rev Genet 10:745–755

    PubMed  CAS  Google Scholar 

  • O’Connell J, Allen J (2004) Dating the colonization of the Sahul (Pleistocene Australia – New Guinea): a review of recent research. J Archaeol Sci 31:835–853

    Google Scholar 

  • O’Rourke DH, Suarez BK (1985) Pattern and correlates of genetic variation in South Amerindians. Ann Hum Biol 13:13–32

    Google Scholar 

  • Patterson N, Price AL, Reich D (2006) Population structure and eigenanalysis. PLoS Genet 2:e190

    PubMed  Google Scholar 

  • Pritchard JK, Stephens M, Donnelly P (2000) Inference of population structure using multilocus genotype data. Genetics 155:945–959

    PubMed  CAS  Google Scholar 

  • Ragoussis J (2009) Genotyping technologies for genetic research. Annu Rev Genomics Hum Genet 10:117–133

    PubMed  CAS  Google Scholar 

  • Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL (2005) Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci USA 102:15942–15947

    PubMed  CAS  Google Scholar 

  • Ramachandran S, Rosenberg NA, Zhivotovsky LA, Feldman MW (2004) Robustness of the inference of human population structure: a comparison of X-chromosomal and autosomal microsatellites. Hum Genomics 1:87–97

    PubMed  CAS  Google Scholar 

  • Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W et al (2006) Global variation in copy number in the human genome. Nature 444:444–454

    PubMed  CAS  Google Scholar 

  • Reed FA, Tishkoff SA (2006) African human diversity, origins and migrations. Curr Opin Genet Dev 16:597–605

    PubMed  CAS  Google Scholar 

  • Reich D, Price AL, Patterson N (2008) Principal component analysis of genetic data. Nat Genet 40(5):491–492

    PubMed  CAS  Google Scholar 

  • Reich D, Thangaraj K, Patterson N, Price AL, Singh L (2009) Reconstructing Indian population history. Nature 461:489–494

    PubMed  CAS  Google Scholar 

  • Relethford JH (2008) Genetic evidence and the modern human origins debate. Heredity 100:555–563

    PubMed  CAS  Google Scholar 

  • Romualdi C, Balding D, Nasidze IS, Risch G, Robichaux M, Sherry S, Stoneking M, Batzer M, Barbujani G (2002) Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms. Genome Res 12:602–612

    PubMed  CAS  Google Scholar 

  • Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW (2005) Clines, clusters, and the effects of study design on the inference of human population structure. PloS Genet 6:e70

    Google Scholar 

  • Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW (2002) Genetic structure of human populations. Science 298:2381–2385

    PubMed  CAS  Google Scholar 

  • Rothhammer F, Silva C, Callegari-Jacques SM, Llop E, Salzano FM (1997) Gradients of HLA diversity in South American Indians. Ann Hum Biol 24:197–208

    PubMed  CAS  Google Scholar 

  • Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES (2006) Positive natural selection in the human lineage. Science 312:1614–1620

    PubMed  CAS  Google Scholar 

  • Schuster SC, Miller W, Ratan A, Tomsho LP, Giardine B, Kasson LR, Harris RS, Petersen DC, Zhao F, Qi J et al (2010) Complete Khoisan and Bantu geomes from Southern Africa. Nature 463:943–947

    PubMed  CAS  Google Scholar 

  • Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S et al (2000) The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155–1159

    PubMed  CAS  Google Scholar 

  • Simoni L, Calafell F, Pettener D, Bertranpetit J, Barbujani G (2000) Geographic patterns of mtDNA diversity in Europe. Am J Hum Genet 66:262–278

    PubMed  CAS  Google Scholar 

  • Soares P, Achilli A, Semino O, Davies W, Macaulay V, Bandelt HJ, Torroni A, Richards MB (2010) The archaeogenetics of Europe. Curr Biol 20:R174–R183

    PubMed  CAS  Google Scholar 

  • Sokal RR (1988) Genetic, geographic, and linguistic distances in Europe. Proc Natl Acad Sci USA 85:1722–1726

    PubMed  CAS  Google Scholar 

  • Sokal RR, Oden NL, Legendre P, Fortin MJ, Kim J, Thomson BA, Vaudor A, Harding RM, Barbujani G (1990) Genetics and language in European populations. Am Nat 135:157–175

    Google Scholar 

  • Sokal RR, Oden NL, Thomson BA (1988) Genetic changes across language boundaries in Europe. Am J Phys Anthropol 76:337–361

    PubMed  CAS  Google Scholar 

  • Stone AC, Griffiths RC, Zegura SL, Hammer MF (2002) High levels of Y-chromosome nucleotide diversity in the genus Pan. Proc Natl Acad Sci USA 99:43–48

    PubMed  CAS  Google Scholar 

  • Tang H, Peng J, Wang P, Risch NJ (2005) Estimation of individual admixture: analytical and study design considerations. Genet Epidemiol 28(4):289–301

    PubMed  Google Scholar 

  • Tattersall I (2009) Out of Africa: modern human origins special feature: human origins. Proc Natl Acad Sci USA 106:16018–16021

    PubMed  CAS  Google Scholar 

  • Terrell JE, Kelly KM, Rainbird P (2001) Foregone conclusions? In search of “Papuans” and “Austronesians”. Curr Anthropol 42:97–124

    Google Scholar 

  • Thalmann O, Fischer A, Lankester F, Paabo S, Vigilant L (2007) The complex evolutionary history of gorillas: insights from genomic data. Mol Biol Evol 24:146–158

    PubMed  CAS  Google Scholar 

  • Thanseem I, Thangaraj K, Chaubey G, Singh VK, Bhaskar LV, Reddy BM, Reddy AG, Singh L (2006) Genetic affinities among the lower castes and tribal groups of India: inference from Y chromosome and mitochondrial DNA. BMC Genet 7:42

    PubMed  Google Scholar 

  • Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, Froment A, Hirbo JB, Awomoyi AA, Bodo JM, Doumbo O et al (2009) The genetic structure and history of Africans and African Americans. Science 324:1035–1044

    PubMed  CAS  Google Scholar 

  • Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M et al (2007) Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 39:31–40

    PubMed  CAS  Google Scholar 

  • Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Zhang J et al (2008) The diploid genome sequence of an Asian individual. Nature 456:60–65

    PubMed  CAS  Google Scholar 

  • Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde LB (2001) Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms. Am J Hum Genet 68:738–752

    PubMed  CAS  Google Scholar 

  • Watkins WS, Thara R, Mowry BJ, Zhang Y, Witherspoon DJ, Tolpinrud W, Bamshad MJ, Tirupati S, Padmavati R, Smith H et al (2008) Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphisms. BMC Genet 9:86

    PubMed  CAS  Google Scholar 

  • Watson JD, Jordan E (1989) The Human Genome Program at the National Institutes of Health. Genomics 5:654–656

    PubMed  CAS  Google Scholar 

  • Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JR, Stevens S, Hall AS et al (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 40:575–583

    PubMed  CAS  Google Scholar 

  • Weir BS, Cardon LR, Anderson AD, Nielsen DM, Hill WG (2005) Measures of human population structure show heterogeneity among genomic regions. Genome Res 15:1468–1476

    PubMed  CAS  Google Scholar 

  • Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT et al (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872–876

    PubMed  CAS  Google Scholar 

  • Witherspoon DJ, Wooding S, Rogers AR, Marchani EE, Watkins WS, Batzer MA, Jorde LB (2007) Genetic similarities within and between human populations. Genetics 176(1):351–359

    PubMed  CAS  Google Scholar 

  • Wolpoff MH, Hawks J, Frayer DW, Hunley K (2001) Modern human ancestry at the peripheries: a test of the replacement theory. Science 291:293–297

    PubMed  CAS  Google Scholar 

  • Xing J, Watkins WS, Witherspoon DJ, Zhang Y, Guthery SL, Thara R, Mowry BJ, Bulayeva K, Weiss RB, Jorde LB (2009) Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res 19:815–825

    PubMed  CAS  Google Scholar 

  • Xu S, Yin X, Li S, Jin W, Lou H, Yang L, Gong X, Wang H, Shen Y, Pan X et al (2009) Genomic dissection of population substructure of Han Chinese and its implication in association studies. Am J Hum Genet 85(6):762–774

    PubMed  CAS  Google Scholar 

  • Yu N, Chen FC, Ota S, Jorde LB, Pamilo P, Patthy L, Ramsay M, Jenkins T, Shyue SK, Li WH (2002) Larger genetic differences within Africans than between Africans and Eurasians. Genetics 161:269–274

    PubMed  CAS  Google Scholar 

  • Zerjal T, Pandya A, Thangaraj K, Ling EY, Kearley J, Bertoneri S, Paracchini S, Singh L, Tyler-Smith C (2007) Y-chromosomal insights into the genetic impact of the caste system in India. Hum Genet 121:137–144

    PubMed  CAS  Google Scholar 

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Acknowledgements

During the development of this paper, VC was supported by a MIUR (Italian Ministry of the Universities and Research) 2007 FIRB grant (The impact of biotechnological innovation of individual rights. An interdisciplinary study.) We thank Kenneth K. Kidd for the idea of Figure 6.3., based on material published at his website: http://info.med.yale.edu/genetics/kkidd/point.html.

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Authors and Affiliations

  1. Department of Biology and Evolution, University of Ferrara, via Borsari 46, 44121, Ferrara, Italy

    Guido Barbujani & Vincenza Colonna

  2. Institute of Genetics and Biophysics “A. Buzzati-Traverso”, National Research Council (CNR), Via Pietro Castellino, 111, 80131, Naples, Italy

    Vincenza Colonna

Authors
  1. Guido Barbujani
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  2. Vincenza Colonna
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Correspondence to Guido Barbujani .

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  1. , Mammal Collection, Natural History Museum Vienna, Burgring 7, Vienna, 1010, Austria

    Frank E. Zachos

  2. Naturelle, Luxembourg, Musée National de Histoire, rue Münster 25, Luxembourg, 2106, Luxembourg

    Jan Christian Habel

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Barbujani, G., Colonna, V. (2011). Genetic Basis of Human Biodiversity: An Update. In: Zachos, F., Habel, J. (eds) Biodiversity Hotspots. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-20992-5_6

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