Amerindian mitochondrial DNA haplogroups predominate in the population of Argentina: towards a first nationwide forensic mitochondrial DNA sequence database

Abstract

The study presents South American mitochondrial DNA (mtDNA) data from selected north (N = 98), central (N = 193) and south (N = 47) Argentinean populations. Sequence analysis of the complete mtDNA control region (CR, 16024–576) resulted in 288 unique haplotypes ignoring C-insertions around positions 16193, 309, and 573; the additional analysis of coding region single nucleotide polymorphisms enabled a fine classification of the described lineages. The Amerindian haplogroups were most frequent in the north and south representing more than 60% of the sequences. A slightly different situation was observed in central Argentina where the Amerindian haplogroups represented less than 50%, and the European contribution was more relevant. Particular clades of the Amerindian subhaplogroups turned out to be nearly region-specific. A minor contribution of African lineages was observed throughout the country. This comprehensive admixture of worldwide mtDNA lineages and the regional specificity of certain clades in the Argentinean population underscore the necessity of carefully selecting regional samples in order to develop a nationwide mtDNA database for forensic and anthropological purposes. The mtDNA sequencing and analysis were performed under EMPOP guidelines in order to attain high quality for the mtDNA database.

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Acknowledgements

The authors would like to thank Daniela Niederwieser and Theresa Harm for excellent technical assistance. The study was supported in part by the FWF Austrian Science Fund (TR397) to WP and AR and by the National Research Council of Argentina (CONICET) PIP 6114 Res. 438/05 and UBACyT B-035 grants to DC. DC and AS are members of the Carrera del Investigador Científico y Tecnologico and MCB received a doctoral fellowship from UBACyT.

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Correspondence to Walther Parson.

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Fig. S1

Haplogroup distribution of 338 samples from northern Argentina (N = 98) from Formosa (AFO, N = 19), Chaco (ACA, N = 5), Misiones (AMI, N = 48) and Corrientes (ACO, N = 26), central Argentina (N = 193) from Santa Fe (ASF, N = 6) and Buenos Aires (ABS, N = 187) and southern Argentina (N = 47) from Río Negro (ARN, N = 46) and Chubut (ACH, N = 1). The star symbol is used to denote members of a haplogroup that do not belong to any named subhaplogroups (PPT 82 kb)

Fig. S2a

Quasi-median network analysis (www.empop.org) of the Amerindian (Fig. S2a, b) and west Eurasian (Fig. S2c, d) datasets, displaying the torso of HVS-I (16024–16569; Fig. S2a, c) and HVS-II (1–576; Fig. S2b, d). Fast mutations were eliminated applying the EMPOPspeedy filter [18]. The size of a node corresponds to the log-value of the number of haplotypes pooled in that node. Nodes include the name of the haplogroup; multiple haplogroups within a node are indicated by the most frequent haplogroup and “+.” Transitions are displayed in green, transversions and indels in red. Upper case letters correspond to the IUPAC code; lower case letters denote a combination of the designation with the upper case letter and a deletion (PDF 12 kb)

Fig. S2b

Quasi-median network analysis (www.empop.org) of the Amerindian (Fig. S2a, b) and west Eurasian (Fig. S2c, d) datasets, displaying the torso of HVS-I (16024–16569; Fig. S2a, c) and HVS-II (1–576; Fig. S2b, d). Fast mutations were eliminated applying the EMPOPspeedy filter [18]. The size of a node corresponds to the log-value of the number of haplotypes pooled in that node. Nodes include the name of the haplogroup; multiple haplogroups within a node are indicated by the most frequent haplogroup and “+.” Transitions are displayed in green, transversions and indels in red. Upper case letters correspond to the IUPAC code; lower case letters denote a combination of the designation with the upper case letter and a deletion (PDF 13 kb)

Fig. S2c

Quasi-median network analysis (www.empop.org) of the Amerindian (Fig. S2a, b) and west Eurasian (Fig. S2c, d) datasets, displaying the torso of HVS-I (16024–16569; Fig. S2a, c) and HVS-II (1–576; Fig. S2b, d). Fast mutations were eliminated applying the EMPOPspeedy filter [18]. The size of a node corresponds to the log-value of the number of haplotypes pooled in that node. Nodes include the name of the haplogroup; multiple haplogroups within a node are indicated by the most frequent haplogroup and “+.” Transitions are displayed in green, transversions and indels in red. Upper case letters correspond to the IUPAC code; lower case letters denote a combination of the designation with the upper case letter and a deletion (PDF 12 kb)

Fig. S2d

Quasi-median network analysis (www.empop.org) of the Amerindian (Fig. S2a, b) and west Eurasian (Fig. S2c, d) datasets, displaying the torso of HVS-I (16024–16569; Fig. S2a, c) and HVS-II (1–576; Fig. S2b, d). Fast mutations were eliminated applying the EMPOPspeedy filter [18]. The size of a node corresponds to the log-value of the number of haplotypes pooled in that node. Nodes include the name of the haplogroup; multiple haplogroups within a node are indicated by the most frequent haplogroup and “+.” Transitions are displayed in green, transversions and indels in red. Upper case letters correspond to the IUPAC code; lower case letters denote a combination of the designation with the upper case letter and a deletion (PDF 9 kb)

Table S1

Control region and coding region information in the Argentinean dataset (N = 338). Sequence ranges are indicated by “#!,” sequenced regions are separated by “−,” and targeted SNPs are indicated by their position relative to rCRS (XLS 109 kb)

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Bobillo, M.C., Zimmermann, B., Sala, A. et al. Amerindian mitochondrial DNA haplogroups predominate in the population of Argentina: towards a first nationwide forensic mitochondrial DNA sequence database. Int J Legal Med 124, 263–268 (2010). https://doi.org/10.1007/s00414-009-0366-3

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Keywords

  • mtDNA population data
  • Native America
  • Control region
  • Coding region
  • Forensics