Abstract
A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same individuals. We additionally compiled a database containing more than 4,000, 6,800, and 12,000 HVS-I sequences of Native American, sub-Saharan African, and European origin, respectively. The Y-Chromosome Haplotype Reference Database (YHRD) was used as a reference for the Y-STR profiles from Córdoba. The Native American component is highly prevalent on the maternal side (~41%) in contrast to the Y-chromosome paternal contribution (~2%), indicating a strong gender bias in the colonization and admixture processes that occurred in the recent history of Argentina, in agreement with historical records. The demographic input of African slaves in Córdoba was very high in the eighteenth century (~40% of the total population) but decreased dramatically after a few decades; therefore, the minor traces of sub-Saharan Y-chromosome and mtDNA lineages observed in our sample fit well with these historical records. The European Y-chromosome component of Córdoba (~97%; in contrast to the 57% observed in the mtDNA side) also mirrors the substantial immigration experienced by Argentina during the beginning of the last century, predominantly from Italy and Spain.
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References
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A (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 75:910–918
Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt H-J, Semino O, Torroni A (2005) Saami and Berbers—an unexpected mitochondrial DNA link. Am J Hum Genet 76:883–886
Álvarez-Iglesias V, Jaime JC, Carracedo Á, Salas A (2007) Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups. Forensic Sci Int Genet 1:44–55
Alves-Silva J, da Silva Santos M, Guimaraes PE, Ferreira AC, Bandelt H-J, Pena SD, Prado VF (2000) The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67:444–461
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
Bailliet G, Castilla EE, Adams JP, Orioli IM, Martinez-Marignac VL, Richard SM, Bianchi NO (2001) Correlation between molecular and conventional genealogies in Aicuña: a rural population from Northwestern Argentina. Hum Hered 51:150–159
Bandelt H-J (1994) Phylogenetic networks. Verhandlungen des Naturwissenschaftlichen Vereins Hamburg 34:51–71
Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo C, Scozzari R, Richards M, Villems R, Macaulay V, Howell N, Torroni A, Zhang Y-P (2003) Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet 67:512–524
Bandelt H-J, Salas A, Bravi CM (2004a) Problems in FBI mtDNA database. Science 305:1402–1404
Bandelt H-J, Salas A, Lutz-Bonengel S (2004b) Artificial recombination in forensic mtDNA population databases. Int J Legal Med 118:267–273
Beleza S, Gusmão L, Amorim A, Carracedo Á, Salas A (2005) The genetic legacy of western Bantu migrations. Hum Genet 117:366–375
Bini C, Ceccardi S, Luiselli D, Ferri G, Pelotti S, Colalongo C, Falconi M, Pappalardo G (2003) Different informativeness of the three hypervariable mitochondrial DNA regions in the population of Bologna (Italy). Forensic Sci Int 135:48–52
Brandstätter A, Egyed B, Zimmermann B, Duftner N, Padar Z, Parson W (2007) Migration rates and genetic structure of two Hungarian Ethnic Groups in Transylvania, Romania. Ann Hum Genet 71:791–803
Cabana GS, Merriwether DA, Hunley K, Demarchi DA (2006) Is the genetic structure of Gran Chaco populations unique? Interregional perspectives on native South American mitochondrial DNA variation. Am J Phys Anthropol 131:108–119
Carracedo Á, Bar W, Lincoln P, Mayr W, Morling N, Olaisen B, Schneider P, Budowle B, Brinkmann B, Gill P, Holland M, Tully G, Wilson M (2000) DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing. Forensic Sci Int 110:79–85
Černý V, Salas A, Hájek M, Žaloudková M, Brdička R (2007) A bidirectional corridor in the Sahel-Sudan belt and the distinctive features of the Chad Basin populations: a history revealed by the mitochondrial DNA genome. Ann Hum Genet 71(Pt 4):433–452
Coia V, Destro-Bisol G, Verginelli F, Battaggia C, Boschi I, Cruciani F, Spedini G, Comas D, Calafell F (2005) Brief communication: mtDNA variation in North Cameroon: lack of Asian lineages and implications for back migration from Asia to sub-Saharan Africa. Am J Phys Anthropol 128:678–681
Dipierri JE, Alfaro E, Martínez-Marignac VL, Bailliet G, Bravi CM, Cejas S, Bianchi NO (1998) Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina. Hum Biol 70:1001–1010
Dornelles CL, Battilana J, Fagundes NJ, Freitas LB, Bonatto SL, Salzano FM (2004) Mitochondrial DNA and Alu insertions in a genetically peculiar population: the Ayoreo Indians of Bolivia and Paraguay. Am J Hum Biol 16:479–488
Egeland T, Salas A (2008) Statistical evaluation of haploid genetic evidence. TOForensicSJ 1(1):4-11
Ely B, Wilson JL, Jackson F, Jackson BA (2006) African-American mitochondrial DNAs often match mtDNAs found in multiple African ethnic groups. BMC Biol 4:34
Fondevila M, Jaime JC, Salas A, Lareu MV, Carracedo A (2003) Y-chromosome STR haplotypes in Cordoba (Argentina). Forensic Sci Int 137:217–220
García-Bour J, Pérez-Pérez A, Álvarez S, Fernández E, López-Parra AM, Arroyo-Pardo E, Turbón D (2004) Early population differentiation in extinct aborigines from Tierra del Fuego-Patagonia: ancient mtDNA sequences and Y-chromosome STR characterization. Am J Phys Anthropol 123:361–370
Ginther C, Corach D, Penacino GA, Rey JA, Carnese FR, Hutz MH, Anderson A, Just J, Salzano FM, King MC (1993) Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. Exs 67:211–219
Green LD, Derr JN, Knight A (2000) mtDNA affinities of the peoples of North-Central Mexico. Am J Hum Genet 66:989–998
Horai S, Kondo R, Nakagawa-Hattori Y, Hayashi S, Sonoda S, Tajima K (1993) Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol 10:23–47
Kivisild T, Reidla M, Metspalu E, Rosa A, Brehm A, Pennarun E, Parik J, Geberhiwot T, Usanga E, Villems R (2004) Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears. Am J Hum Genet 75:752–770
Kolman CJ, Bermingham E, Cooke R, Ward RH, Arias TD, Guionneau-Sinclair F (1995) Reduced mtDNA diversity in the Ngöbé Amerinds of Panamá. Genetics 140:275–283
Kong Q-P, Bandelt H-J, Sun C, Yao Y-G, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang Y-P (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15:2076–2086
Loogväli E-L, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E, Tambets K, Reidla M, Tolk H-V, Parik J, Pennarun E, Laos S, Lunkina A, Golubenko M, Barać L, Peričić M, Balanovsky OP, Gusar V, Khusnutdinova EK, Stepanov V, Puzyrev V, Rudan P, Balanovska EV, Grechanina E, Richard C, Moisan JP, Chaventré A, Anagnou NP, Pappa KI, Michalodimitrakis EN, Claustres M, Gölge M, Mikerezi I, Usanga E, Villems R (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21:2012–2021
Lutz S, Weisser HJ, Heizmann J, Pollak S (1998) Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int J Legal Med 111:67–77
Marrero AR, Silva-Junior WA, Bravi CM, Hutz MH, Petzl-Erler ML, Ruiz-Linares A, Salzano FM, Bortolini MC (2007) Demographic and evolutionary trajectories of the Guarani and Kaingang natives of Brazil. Am J Phys Anthropol 132:301–310
Martinez-Marignac VL, Bertoni B, Parra EJ, Bianchi NO (2004) Characterization of admixture in an urban sample from Buenos Aires, Argentina, using uniparentally and biparentally inherited genetic markers. Hum Biol 76:543–557
Monson KL, Miller KWP, Wilson MR, DiZinno JA, Budowle B (2002) The mtDNA population database: an integrated software and database resource for forensic comparison. Forensic Sci Commun 4(2)
Moraga ML, Rocco P, Miquel JF, Nervi F, Llop E, Chakraborty R, Rothhammer F, Carvallo P (2000) Mitochondrial DNA polymorphisms in Chilean aboriginal populations: implications for the peopling of the southern cone of the continent. Am J Phys Anthropol 113:19–29
Parra EJ, Kittles RA, Argyropoulos G, Pfaff CL, Hiester K, Bonilla C, Sylvester N, Parrish-Gause D, Garvey WT, Jin L, McKeigue PM, Kamboh MI, Ferrell RE, Pollitzer WS, Shriver MD (2001) Ancestral proportions and admixture dynamics in geographically defined African Americans living in South Carolina. Am J Phys Anthropol 114:18–29
Plaza S, Salas A, Calafell F, Corte-Real F, Bertranpetit J, Carracedo Á, Comas D (2004) Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet 115:439–447
Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti AS, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Qasim Mehdi S, Torroni A, McElreavey K (2004) Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 74:827–845
Quintáns B, Álvarez-Iglesias V, Salas A, Phillips C, Lareu MV, Carracedo Á (2004) Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci Int 140:251–257
Rozas J, Sánchez-DelBarrio JC, Messeguer X, Rozas R (2003) DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 19:2496–2497
Salas A, Bandelt H-J, Macaulay V, Richards MB (2007) Phylogeographic investigations: the role of trees in forensic genetics. Forensic Sci Int 168:1–13
Salas A, Carracedo Á (2007) Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms. Rev Clin Esp 207:563–565
Salas A, Carracedo Á, Macaulay V, Richards M, Bandelt H-J (2005a) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun 335:891–899
Salas A, Carracedo Á, Richards M, Macaulay V (2005b) Charting the ancestry of African Americans. Am J Hum Genet 77:676–680
Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo Á (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6:365–375
Salas A, Richards M, De la Fé T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo Á (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111
Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo Á (2004) The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74:454–465
Salas A, Richards M, Lareu MV, Sobrino B, Silva S, Matamoros M, Macaulay V, Carracedo Á (2005c) Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA. Am J Phys Anthropol 128:855–860
Sun C, Kong QP, Palanichamy M, Agrawal S, Bandelt H-J, Yao YG, Khan F, Zhu CL, Chaudhuri TK, Zhang YP (2006) The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Mol Biol Evol 23:683–690
Torroni A, Achilli A, Macaulay V, Richards M, Bandelt H-J (2006) Harvesting the fruit of the human mtDNA tree. Trends Genet 22:339–345
Toscanini UF, Gusmão L, Berardi G, Amorim A, Carracedo Á, Salas A, Raimondi EH (2006) Testing for genetic structure in different urban Argentinian populations. Forensic Sci Int 165(1):35–40
Victoria-Gomes M (2002) La presencia negroafricana en al Argentina. Pasado y permanencia. Boletín digital de la Biblioteca de la Nación Argentina 9:2
Acknowledgments
We thank Chris Phillips for critically reading the manuscript and making useful suggestions. The ‘Ramón y Cajal’ Spanish programme from the Ministerio de Educación y Ciencia (RYC2005-3). Grants from the Xunta de Galicia (PGIDIT06PXIB208079PR) and Fundación de Investigación Médica Mutua Madrileña awarded to AS partially supported this project.
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Salas, A., Jaime, J.C., Álvarez-Iglesias, V. et al. Gender bias in the multiethnic genetic composition of central Argentina. J Hum Genet 53, 662–674 (2008). https://doi.org/10.1007/s10038-008-0297-8
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DOI: https://doi.org/10.1007/s10038-008-0297-8
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