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The genetic composition of Argentina prior to the massive immigration era: Insights from matrilineages of extant criollos in central-western Argentina
Forensic Science International: Genetics Supplement Series 2 (2009) 342–343
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/FSIGSS
Research article
The genetic composition of Argentina prior to the massive immigration era: Insights from matrilineages of extant criollos in central-western Argentina J.M.B. Motti a, B. Rodenak a, M. Muzzio a, V. Ramallo a, M.R. Santos a, C. Castro a, E.L. Alfaro b, J.E. Dipierri b, M. Scheible c, J.L. Saunier c, J.A. Irwin c, M.D. Coble c, G. Bailliet a, C.M. Bravi a,* a b c
IMBICE, CCT-La Plata CONICET & CICPBA, Argentina INBIAL, Universidad Nacional de Jujuy, Argentina Armed Forces DNA Identification Laboratory, Rockville, MD, USA
A R T I C L E I N F O
A B S T R A C T
Article history: Received 15 September 2009 Accepted 16 September 2009
Massive transatlantic immigration starting in 1860 significantly modified the human genetic landscape of Argentina. In an attempt to analyze the genetic composition of the country previous to this radical change, biological samples and genealogical info were obtained from individuals in La Rioja and San Juan cities in central-western Argentina. MtDNA control region sequences were obtained from individuals of self-reported criollo maternal ancestry, assigned to the (sub)haplogroups they belong to, and assigned a major continental origin. A high proportion of maternal lineages of Native American ancestry (>86%) was found in both populations, as well as similar inputs stemming from West Eurasia and sub-Saharan Africa. In sharp contrast, significant differences in the contribution of Native American (sub)haplogroups were observed. We propose that our results reflect both the differential distribution of Native American populations that contributed to the present-day criollo mtDNA gene pool and a preferential input of immigrants of Chilean origin to San Juan. ß 2009 Elsevier Ireland Ltd All rights reserved.
Keywords: mtDNA Control region Native American Admixed populations Argentina
1. Introduction and aims The socio-ethnic composition of what is now Argentina was similar to that of the rest of former colonial Spanish America until the massive immigration era that begun in middle 19th century, i.e. it comprised a minority of Europeans and peoples of unadmixed European descent plus variable numbers of Africans, Native Americans and a wide array of castas or admixed individuals. Estimates mainly based on a 1778 census give a total population of 423,000 for what is now Argentina [1]. Of these, about 223,000 could be divided in approximate equal shares of Africans and mulattoes, Indians, and Europeans plus mestizos while the remaining 200,000 were Indians living in territories out of colonial control. With respect to absolute number of immigrants, Argentina was the second country of choice for the massive spontaneous transoceanic migrations that took place between 1850 and 1940, and the first one when the relative size of incoming and recipient populations are considered [2,3]. By 1914, Argentine population comprised as high as 30% foreigners. An estimate of
* Corresponding author at: IMBICE, Calle 526 e/10 y 11, 1900 La Plata, Argentina. Tel.: +54 221 4210112; fax: +54 221 4210112. E-mail address: [email protected] (C.M. Bravi). 1875-1768/$ – see front matter ß 2009 Elsevier Ireland Ltd All rights reserved. doi:10.1016/j.fsigss.2009.09.034
4,256,000 migrants settled in Argentina between 1857 and 1960, with 75% of Italian and Spanish origin [4], followed by French, Germans, Polish, and Russians, among many others [2]. An important bias towards migrant males is reflected in a masculinity index of 220 [4]. Geographical distribution of immigrants was highly skewed towards the Pampa region of central-eastern Argentina. In order to analyze the regional variation of the genetic composition of Argentina prior to massive migratory arrivals, mtDNA CR sequences from individuals of criollo maternal ancestry from San Juan (SJ) and La Rioja (LR) provinces were obtained and assigned to major continental haplogroups. The term criollo is applied in Argentina to both animal and plant breeds of ‘‘local’’ origin, and self-applied by people who acknowledges unknown recent allochthonous ancestry. 2. Materials and methods Blood or saliva samples and genealogical info were obtained from voluntary participants at public hospitals in San Juan (N = 112) and La Rioja (N = 244), capital cities of the homonymous provinces in central-western Argentina. A subset of those individuals whose mothers or maternal grandmothers were born in the province and who declared unknown alochtonous ancestry for their maternal line were selected as proxy for the middle-19th century mtDNA landscape of the area.
J.M.B. Motti et al. / Forensic Science International: Genetics Supplement Series 2 (2009) 342–343
343
Table 1 Distribution of criollo mtDNA lineages from central-western Argentina in (sub-) haplogroups and major continental clades. Haplogroups Native American Population La Rioja San Juan
N 82 83
A2 0.073 0.157
B2 0.146 0.217
C1b 0.122 0.205
C1c 0 0.024
C1d 0.085 0.060
C4c 0 0.012
D1 0.451 0.181
D4h3 0 0.012
All 0.878 0.867
African
W. Eurasian
L(xM,N) 0.037a 0.036c
N(xA,B) 0.085b 0.096d
Haplogroup assignment of alochtonous lineages (all cases are single except otherwise indicated inside parenthesis). a L1c1a2, L3e2b, L3e3; b H? (2), H5 (2), HV0b’c, J1b, J1c1; c L3e1a, L3e2, L3f1b1; d H?, H5, J1c1, J1c7, U4c1, U6a, W1e, X2b.
Complete CR sequences further extended 50 in the coding region until position 15,878 (positions 15,878–16,569 plus 001-576 following numbering in [5]) were obtained from N = 82 individuals from LR and N = 83 from SJ. This approach allowed us to type diagnostic transitions for Native American sub-haplogroups C1b, C1c, and C1d. PCR amplification and redundant sequencing were performed following the procedures described in [6,7]. Sequences were assigned to haplogroups following [8–10], and [11] as updated in [12]. Diversity for each population was calculated using the method of [13]: X n H¼ ð1 x2 Þ n1 where n is the population size and x is the frequency of each haplogroup found. We tested the hypothesis of random distribution of the individuals between pairs of populations as described in [14]. 3. Results and discussion Diversity values were higher for SJ (H = 0.849) than for LR (H = 0.748). A high proportion of maternal lineages of Native American ancestry (>86%) was found in both populations as well as similar inputs from West Eurasia (LR = 8.5%, SJ = 9.6%), and subSaharan Africa (LR = 3.7%, SJ = 3.6%) (Table 1). No significant differences were found between LR and SJ when Native American, African, and West Eurasian (European plus Middle East) fractions were compared (exact P value = 1.000 0.000). The relatively high ratio of about 28% for the African lineages in the allochthonous fraction is particularly interesting. On the other side, highly significant differences were observed in the distribution of Native American (sub)haplogroups between both samples (exact P values: 0.004 0.004) (Table 1). Higher frequencies for haplogroup D1 and lower frequencies for haplogroups A2, B2 and C1b were present in LR while C1c, C4c and D4h3a lineages, albeit at very low frequencies, were restricted to SJ. While similarity in the major continental contribution to the mtDNA gene pool points to a rather homogeneous admixture process at regional level, the strong differences found for native (sub)haplogroups frequencies need to be explained. We hypothesize that our results reflect, at least partially, the differential distribution of autochthonous populations in colonial times. If we consider the regional ethnic map during the 17th century, we observe that La Rioja, with regards to native populations, was inhabited only by those belonging to the so called Diaguita Confederation, whereas San Juan was homeland for two different ethnic groups: the north was inhabited by Capayanes and Yacampis (from the Diaguita Confederation) while the south area was homeland for the Allentiac Huarpes, linguistically unrelated to the Diaguitas [15]. Furthermore, San Juan has a long history of political, economic and migratory ties with Chile, so that a more important
contribution of Chilean indians and/or criollos is expected there than in La Rioja. The finding that the single D4h3a lineage reported here belongs to an unnamed branch of D4h3a2 sub-haplogroup recently described in two Chileans [10] provides support for this last scenario. Role of funding Financial support was provided by CONICET, ANPCyT, CICPBA, and the US NIJ through interagency agreement 2005-DN-R-086 with the AFIP. Conflict of interest None. Acknowledgements Thanks are due to the donors that kindly contributed with biological samples and genealogical info, and to the Hospitals staff that helped us in the fieldwork. References [1] A. Lattes, La poblacio´n de la Argentina en la era pre-estadı´stica, unpublished manuscript. [2] A. Lattes, Migraciones hacia America Latina y el Caribe desde principios del siglo XX, Cuadernos del CENEP No. 35, Buenos Aires, 1985. [3] F. Esteban, Dina´mica migratoria argentina: inmigracio´n y exilios, Am. Latina Hoy (2003) 15–34. [4] F. Devoto, La inmigracio´n de ultramar, in: S. Torrado (Ed.), Poblacio´n y bienestar en la Argentina del primero al segundo Centenario, Edasha, Buenos Aires, 2007, pp. 531–548. [5] R.M. Andrews, I. Kubacka, P.F. Chinnery, R.N. Lightowlers, D.M. Turnbull, N. Howell, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat. Genet. 23 (1999) 147. [6] A. Brandsta¨tter, C.T. Peterson, J.A. Irwin, et al., mtDNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database, Int. J. Leg. Med. 118 (2004) 294–306. [7] J.A. Irwin, J.L. Saunier, K.M. Strouss, et al., Development and expansion of high quality control region databases to improve forensic mtDNA evidence interpretation, Forensic Sci. Int. Genet. 1 (2007) 154–157. [8] A. Achilli, U.A. Perego, C.M. Bravi, et al., The phylogeny of the four pan-American mtDNA haplogroups: implications for evolutionary and disease studies, PLoS One 3 (2008) e1764. [9] E. Tamm, T. Kivisild, M. Reidla, et al., Beringian standstill and spread of Native American founders, PLoS One 2 (2007) e829. [10] U.A. Perego, A. Achilli, N. Angerhofer, et al., Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups, Curr. Biol. 19 (2009) 1–8. [11] M. van Oven, M. Kayser, Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation, Hum. Mutat. 30 (2009) E386–394. [12] http://phylotree.org/. [13] F. Tajima, Statistical method for testing the neutral mutation hypothesis by DNA polymorphism, Genetics 123 (1989) 585–595. [14] M. Raymond, F. Rousset, An exact test for population differentiation, Evolution 49 (1995) 1280–1283. [15] J. Schobinger, Las tierras cuyanas, Nueva Historia de la Nacio´n Argentina, vol. 1, Academia Nacional de la Historia & Editorial Planeta, Buenos Aires, 1999, pp. 159–180.
Contents lists available at ScienceDirect
Forensic Science International: Genetics Supplement Series journal homepage: www.elsevier.com/locate/FSIGSS
Research article
The genetic composition of Argentina prior to the massive immigration era: Insights from matrilineages of extant criollos in central-western Argentina J.M.B. Motti a, B. Rodenak a, M. Muzzio a, V. Ramallo a, M.R. Santos a, C. Castro a, E.L. Alfaro b, J.E. Dipierri b, M. Scheible c, J.L. Saunier c, J.A. Irwin c, M.D. Coble c, G. Bailliet a, C.M. Bravi a,* a b c
IMBICE, CCT-La Plata CONICET & CICPBA, Argentina INBIAL, Universidad Nacional de Jujuy, Argentina Armed Forces DNA Identification Laboratory, Rockville, MD, USA
A R T I C L E I N F O
A B S T R A C T
Article history: Received 15 September 2009 Accepted 16 September 2009
Massive transatlantic immigration starting in 1860 significantly modified the human genetic landscape of Argentina. In an attempt to analyze the genetic composition of the country previous to this radical change, biological samples and genealogical info were obtained from individuals in La Rioja and San Juan cities in central-western Argentina. MtDNA control region sequences were obtained from individuals of self-reported criollo maternal ancestry, assigned to the (sub)haplogroups they belong to, and assigned a major continental origin. A high proportion of maternal lineages of Native American ancestry (>86%) was found in both populations, as well as similar inputs stemming from West Eurasia and sub-Saharan Africa. In sharp contrast, significant differences in the contribution of Native American (sub)haplogroups were observed. We propose that our results reflect both the differential distribution of Native American populations that contributed to the present-day criollo mtDNA gene pool and a preferential input of immigrants of Chilean origin to San Juan. ß 2009 Elsevier Ireland Ltd All rights reserved.
Keywords: mtDNA Control region Native American Admixed populations Argentina
1. Introduction and aims The socio-ethnic composition of what is now Argentina was similar to that of the rest of former colonial Spanish America until the massive immigration era that begun in middle 19th century, i.e. it comprised a minority of Europeans and peoples of unadmixed European descent plus variable numbers of Africans, Native Americans and a wide array of castas or admixed individuals. Estimates mainly based on a 1778 census give a total population of 423,000 for what is now Argentina [1]. Of these, about 223,000 could be divided in approximate equal shares of Africans and mulattoes, Indians, and Europeans plus mestizos while the remaining 200,000 were Indians living in territories out of colonial control. With respect to absolute number of immigrants, Argentina was the second country of choice for the massive spontaneous transoceanic migrations that took place between 1850 and 1940, and the first one when the relative size of incoming and recipient populations are considered [2,3]. By 1914, Argentine population comprised as high as 30% foreigners. An estimate of
* Corresponding author at: IMBICE, Calle 526 e/10 y 11, 1900 La Plata, Argentina. Tel.: +54 221 4210112; fax: +54 221 4210112. E-mail address: [email protected] (C.M. Bravi). 1875-1768/$ – see front matter ß 2009 Elsevier Ireland Ltd All rights reserved. doi:10.1016/j.fsigss.2009.09.034
4,256,000 migrants settled in Argentina between 1857 and 1960, with 75% of Italian and Spanish origin [4], followed by French, Germans, Polish, and Russians, among many others [2]. An important bias towards migrant males is reflected in a masculinity index of 220 [4]. Geographical distribution of immigrants was highly skewed towards the Pampa region of central-eastern Argentina. In order to analyze the regional variation of the genetic composition of Argentina prior to massive migratory arrivals, mtDNA CR sequences from individuals of criollo maternal ancestry from San Juan (SJ) and La Rioja (LR) provinces were obtained and assigned to major continental haplogroups. The term criollo is applied in Argentina to both animal and plant breeds of ‘‘local’’ origin, and self-applied by people who acknowledges unknown recent allochthonous ancestry. 2. Materials and methods Blood or saliva samples and genealogical info were obtained from voluntary participants at public hospitals in San Juan (N = 112) and La Rioja (N = 244), capital cities of the homonymous provinces in central-western Argentina. A subset of those individuals whose mothers or maternal grandmothers were born in the province and who declared unknown alochtonous ancestry for their maternal line were selected as proxy for the middle-19th century mtDNA landscape of the area.
J.M.B. Motti et al. / Forensic Science International: Genetics Supplement Series 2 (2009) 342–343
343
Table 1 Distribution of criollo mtDNA lineages from central-western Argentina in (sub-) haplogroups and major continental clades. Haplogroups Native American Population La Rioja San Juan
N 82 83
A2 0.073 0.157
B2 0.146 0.217
C1b 0.122 0.205
C1c 0 0.024
C1d 0.085 0.060
C4c 0 0.012
D1 0.451 0.181
D4h3 0 0.012
All 0.878 0.867
African
W. Eurasian
L(xM,N) 0.037a 0.036c
N(xA,B) 0.085b 0.096d
Haplogroup assignment of alochtonous lineages (all cases are single except otherwise indicated inside parenthesis). a L1c1a2, L3e2b, L3e3; b H? (2), H5 (2), HV0b’c, J1b, J1c1; c L3e1a, L3e2, L3f1b1; d H?, H5, J1c1, J1c7, U4c1, U6a, W1e, X2b.
Complete CR sequences further extended 50 in the coding region until position 15,878 (positions 15,878–16,569 plus 001-576 following numbering in [5]) were obtained from N = 82 individuals from LR and N = 83 from SJ. This approach allowed us to type diagnostic transitions for Native American sub-haplogroups C1b, C1c, and C1d. PCR amplification and redundant sequencing were performed following the procedures described in [6,7]. Sequences were assigned to haplogroups following [8–10], and [11] as updated in [12]. Diversity for each population was calculated using the method of [13]: X n H¼ ð1 x2 Þ n1 where n is the population size and x is the frequency of each haplogroup found. We tested the hypothesis of random distribution of the individuals between pairs of populations as described in [14]. 3. Results and discussion Diversity values were higher for SJ (H = 0.849) than for LR (H = 0.748). A high proportion of maternal lineages of Native American ancestry (>86%) was found in both populations as well as similar inputs from West Eurasia (LR = 8.5%, SJ = 9.6%), and subSaharan Africa (LR = 3.7%, SJ = 3.6%) (Table 1). No significant differences were found between LR and SJ when Native American, African, and West Eurasian (European plus Middle East) fractions were compared (exact P value = 1.000 0.000). The relatively high ratio of about 28% for the African lineages in the allochthonous fraction is particularly interesting. On the other side, highly significant differences were observed in the distribution of Native American (sub)haplogroups between both samples (exact P values: 0.004 0.004) (Table 1). Higher frequencies for haplogroup D1 and lower frequencies for haplogroups A2, B2 and C1b were present in LR while C1c, C4c and D4h3a lineages, albeit at very low frequencies, were restricted to SJ. While similarity in the major continental contribution to the mtDNA gene pool points to a rather homogeneous admixture process at regional level, the strong differences found for native (sub)haplogroups frequencies need to be explained. We hypothesize that our results reflect, at least partially, the differential distribution of autochthonous populations in colonial times. If we consider the regional ethnic map during the 17th century, we observe that La Rioja, with regards to native populations, was inhabited only by those belonging to the so called Diaguita Confederation, whereas San Juan was homeland for two different ethnic groups: the north was inhabited by Capayanes and Yacampis (from the Diaguita Confederation) while the south area was homeland for the Allentiac Huarpes, linguistically unrelated to the Diaguitas [15]. Furthermore, San Juan has a long history of political, economic and migratory ties with Chile, so that a more important
contribution of Chilean indians and/or criollos is expected there than in La Rioja. The finding that the single D4h3a lineage reported here belongs to an unnamed branch of D4h3a2 sub-haplogroup recently described in two Chileans [10] provides support for this last scenario. Role of funding Financial support was provided by CONICET, ANPCyT, CICPBA, and the US NIJ through interagency agreement 2005-DN-R-086 with the AFIP. Conflict of interest None. Acknowledgements Thanks are due to the donors that kindly contributed with biological samples and genealogical info, and to the Hospitals staff that helped us in the fieldwork. References [1] A. Lattes, La poblacio´n de la Argentina en la era pre-estadı´stica, unpublished manuscript. [2] A. Lattes, Migraciones hacia America Latina y el Caribe desde principios del siglo XX, Cuadernos del CENEP No. 35, Buenos Aires, 1985. [3] F. Esteban, Dina´mica migratoria argentina: inmigracio´n y exilios, Am. Latina Hoy (2003) 15–34. [4] F. Devoto, La inmigracio´n de ultramar, in: S. Torrado (Ed.), Poblacio´n y bienestar en la Argentina del primero al segundo Centenario, Edasha, Buenos Aires, 2007, pp. 531–548. [5] R.M. Andrews, I. Kubacka, P.F. Chinnery, R.N. Lightowlers, D.M. Turnbull, N. Howell, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat. Genet. 23 (1999) 147. [6] A. Brandsta¨tter, C.T. Peterson, J.A. Irwin, et al., mtDNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database, Int. J. Leg. Med. 118 (2004) 294–306. [7] J.A. Irwin, J.L. Saunier, K.M. Strouss, et al., Development and expansion of high quality control region databases to improve forensic mtDNA evidence interpretation, Forensic Sci. Int. Genet. 1 (2007) 154–157. [8] A. Achilli, U.A. Perego, C.M. Bravi, et al., The phylogeny of the four pan-American mtDNA haplogroups: implications for evolutionary and disease studies, PLoS One 3 (2008) e1764. [9] E. Tamm, T. Kivisild, M. Reidla, et al., Beringian standstill and spread of Native American founders, PLoS One 2 (2007) e829. [10] U.A. Perego, A. Achilli, N. Angerhofer, et al., Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups, Curr. Biol. 19 (2009) 1–8. [11] M. van Oven, M. Kayser, Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation, Hum. Mutat. 30 (2009) E386–394. [12] http://phylotree.org/. [13] F. Tajima, Statistical method for testing the neutral mutation hypothesis by DNA polymorphism, Genetics 123 (1989) 585–595. [14] M. Raymond, F. Rousset, An exact test for population differentiation, Evolution 49 (1995) 1280–1283. [15] J. Schobinger, Las tierras cuyanas, Nueva Historia de la Nacio´n Argentina, vol. 1, Academia Nacional de la Historia & Editorial Planeta, Buenos Aires, 1999, pp. 159–180.