Publications by authors named "Dario A Demarchi"

21 Publications

  • Page 1 of 1

Biological kinship in 750 year old human remains from Central Argentina with signs of interpersonal violence.

Forensic Sci Med Pathol 2020 12 11;16(4):649-658. Epub 2020 Sep 11.

Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología. CONICET, Instituto de Antropología de Córdoba (IDACOR), Av. Hipólito Yrigoyen 174, 5000, Córdoba, Argentina.

Human skeletal remains of an adult male (20-24 years old) and a juvenile (4-8 years old), dated to 750 ± 85 C years BP, were found on the southern margin of Mar Chiquita Lagoon (Córdoba, Argentina). Both individuals show signs of being victims of interpersonal violence, with arrowheads associated with the remains and perimortem lesions on the juvenile, as well as an unusual form of burial, with the juvenile partially overlapped with the adult. The aim of this work is to study a possible kin relationship between these two individuals through ancient DNA analysis. Biological kinship was evaluated by autosomal and Y-chromosome STR (short tandem repeat) typing, PCR-APLP for SNP determination and hypervariable region I sequencing of the mitochondrial DNA. Genetic analyses indicated that these individuals shared the same Y-chromosomal haplotype but different mitochondrial lineages. The likelihood ratio based on autosomal loci indicates that the genetic profiles of the human remains would be more likely to be that indicating a father-son bond. The paleogenetic approach combined with forensic genetic methods applied to this study allowed us to confirm a hypothesis that originated in bioarchaeological evidence. This study constitutes a unique case in Argentina of kinship determination based on DNA profiles of human remains in an archaeological context of interpersonal violence. It is important to highlight the contribution made by these studies to address topics usually hidden in bioarchaeological studies, such as community organization, cultural customs and mortuary practices.
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http://dx.doi.org/10.1007/s12024-020-00296-3DOI Listing
December 2020

Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina.

PLoS One 2020 16;15(7):e0233808. Epub 2020 Jul 16.

Departamento de Ecología, Genética y Evolución, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.

Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in pre- and post-colonial times. However, little is known about the sub-continental origins of these three main ancestries. We present new high-throughput genotyping data for 87 admixed individuals across Argentina. This data was combined to previously published data for admixed individuals in the region and then compared to different reference panels specifically built to perform population structure analyses at a sub-continental level. Concerning the Native American ancestry, we could identify four Native American components segregating in modern Argentinean populations. Three of them are also found in modern South American populations and are specifically represented in Central Andes, Central Chile/Patagonia, and Subtropical and Tropical Forests geographic areas. The fourth component might be specific to the Central Western region of Argentina, and it is not well represented in any genomic data from the literature. As for the European and African ancestries, we confirmed previous results about origins from Southern Europe, Western and Central Western Africa, and we provide evidences for the presence of Northern European and Eastern African ancestries.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233808PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7365470PMC
September 2020

Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence.

J Hum Genet 2018 Apr 29;63(4):493-507. Epub 2018 Jan 29.

Instituto de Antropología de Córdoba (IDACOR), CONICET/Universidad Nacional de Córdoba, 5000, Córdoba, Argentina.

We present new data and analysis on the genetic variation of contemporary inhabitants of central Argentina, including a total of 812 unrelated individuals from 20 populations. Our goal was to bring new elements for understanding micro-evolutionary and historical processes that generated the genetic diversity of the region, using molecular markers of uniparental inheritance (mitochondrial DNA and Y chromosome). Almost 76% of the individuals show mitochondrial lineages of American origin. The Native American haplogroups predominate in all surveyed localities, except in one. The larger presence of Eurasian maternal lineages were observed in the plains (Pampas) of the southeast, whereas the African lineages are more frequent in northern Córdoba. On the other hand, the analysis of 258 male samples reveals that 92% of them present Eurasian paternal lineages, 7% carry Native American haplogroups, and only 1% of the males show African lineages. The maternal lineages have high genetic diversity homogeneously distributed throughout central Argentina, probably as result of a recent common origin and sustained gene flow. Migratory events that occurred in colonial and recent times should have contributed to hiding any traces of differentiation that might have existed in the past. The analysis of paternal lineages showed also homogeneous distribution of the variation together with a drastic reduction of the native male population.
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http://dx.doi.org/10.1038/s10038-017-0406-7DOI Listing
April 2018

A tale of agriculturalists and hunter-gatherers: Exploring the thrifty genotype hypothesis in native South Americans.

Am J Phys Anthropol 2017 07 2;163(3):591-601. Epub 2017 May 2.

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Objectives: To determine genetic differences between agriculturalist and hunter-gatherer southern Native American populations for selected metabolism-related markers and to test whether Neel's thrifty genotype hypothesis (TGH) could explain the genetic patterns observed in these populations.

Materials And Methods: 375 Native South American individuals from 17 populations were genotyped using six markers (APOE rs429358 and rs7412; APOA2 rs5082; CD36 rs3211883; TCF7L2 rs11196205; and IGF2BP2 rs11705701). Additionally, APOE genotypes from 39 individuals were obtained from the literature. AMOVA, main effects, and gene-gene interaction tests were performed.

Results: We observed differences in allele distribution patterns between agriculturalists and hunter-gatherers for some markers. For instance, between-groups component of genetic variance (F ) for APOE rs429358 showed strong differences in allelic distributions between hunter-gatherers and agriculturalists (p = 0.00196). Gene-gene interaction analysis indicated that the APOE E4/CD36 TT and APOE E4/IGF2BP2 A carrier combinations occur at a higher frequency in hunter-gatherers, but this combination is not replicated in archaic (Neanderthal and Denisovan) and ancient (Anzick, Saqqaq, Ust-Ishim, Mal'ta) hunter-gatherer individuals.

Discussion: A complex scenario explains the observed frequencies of the tested markers in hunter-gatherers. Different factors, such as pleotropic alleles, rainforest selective pressures, and population dynamics, may be collectively shaping the observed genetic patterns. We conclude that although TGH seems a plausible hypothesis to explain part of the data, other factors may be important in our tested populations.
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http://dx.doi.org/10.1002/ajpa.23233DOI Listing
July 2017

Molecular polymorphisms of the ABO locus as informative markers of ancestry in Central Argentina.

Am J Hum Biol 2017 Jul 20;29(4). Epub 2017 Feb 20.

Instituto de Antropología de Córdoba (IDACOR), CONICET/Universidad Nacional de Córdoba, Córdoba, 5000, Argentina.

Objectives: The aim of this study was to investigate the distribution of molecular polymorphisms of the ABO gene in four population samples from the province of Córdoba, in Central Argentina, and to compare them with other worldwide populations.

Methods: A total of 110 buccal swab samples from autochthonous individuals of Córdoba were typified. Molecular characterization of the allelic variants was performed by the analysis of exons 6 and 7 of the ABO gene using PCR-RFLP analysis. Additionally, the Native American AIM O1v542 was characterized by direct sequencing.

Results: The four Córdoba populations did not show significant geographic structure, although the frequency of the O1v542 haplotype, detected in all the populations studied, ranged from 0.019 to 0.222. The principal component analysis based on O allele distribution showed that the populations from Córdoba clustered close to the admixed populations of Santiago and Mexico City, and at intermediate distances between European and Native American populations, while being distant from the African population.

Conclusions: The results demonstrate that the analysis of the ABO system constitutes a useful tool for the study of the genetic structure and evolutionary history of human populations, reflecting accurately the relative contribution of parental continental contribution to the gene pool of admixed populations.
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http://dx.doi.org/10.1002/ajhb.22982DOI Listing
July 2017

Analysis of uniparental lineages in two villages of Santiago Del Estero, Argentina, seat of Pueblos de Indios in colonial times.

Hum Biol 2013 Oct;85(5):699-720

Instituto de Antropología de Córdoba, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

Based on the analysis of the mitochondrial control region and seven biallelic markers of the Y chromosome, we investigated the genetic composition of two rural populations of southern Santiago del Estero, Argentina, that were seats in colonial times of pueblos de indios, a colonial practice that consisted of concentrating the indigenous populations in organized and accessible settlements, to facilitate Christianizing and policing. We found the Native American Y chromosome haplogroup Q1a3a in only 11% (3 of 27) of the males. Haplogroup R, common in European populations, is the most frequent haplogroup in Santiago del Estero (55%). In contrast, the persistence of Native American maternal lineages is extremely high (95%). This finding is most likely due to the low incidence in that region of the 20th century European wave of migration and to the existence of pueblos de indios from 1612 to the first decades of the 19th century. In contrast to archeological records that suggest Santiago del Estero late pre-Hispanic groups were strongly influenced by the Andean world, we did not find genetic evidence in support of significant gene fl ow. On the other hand, these populations share many mitochondrial DNA hypervariable region I (HVRI) haplotypes with other populations from the Sierras Pampeanas (particularly with Córdoba) and the Gran Chaco regions.
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http://dx.doi.org/10.3378/027.085.0504DOI Listing
October 2013

So close, so far away: analysis of surnames in a town of twins (Cândido Godói, Brazil).

Ann Hum Genet 2013 Mar 1;77(2):125-36. Epub 2013 Feb 1.

INAGEMP-Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.

Cândido Godói is a small Brazilian town known for high rates of twin birth. In 2011, a genetic study showed that this localized high rate of twin births could be explained by a genetic founder effect. Here we used isonymic analysis and surname distribution to identify population subgroups within 5316 inhabitants and 665 different surnames. Four clusters were constructed based on different twin rates (P < 0.001; MRPP test). Fisher's α and consanguinity index showed low and high values, respectively, corresponding with observed values in isolated communities with high levels of genetic drift. Values of A and B estimators confirmed population isolation. Three boundaries were identified with Monmonier's maximum difference algorithm (P = 0.007). Inside the isolated sections, surnames of different geographic origins, language, and religion were represented. With an adequate statistical methodology, surname analyses provided a close approximation of historic and socioeconomic background at the moment of colony settlement. In this context, the maintenance of social and cultural practices had strong implications for the population's structure leading to drift processes in this small town, supporting the previous genetic study.
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http://dx.doi.org/10.1111/ahg.12001DOI Listing
March 2013

Phylogeography of mitochondrial haplogroup D1: an early spread of subhaplogroup D1j from Central Argentina.

Am J Phys Anthropol 2012 Dec 31;149(4):583-90. Epub 2012 Oct 31.

IDACOR CONICET, Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

We analyzed the patterns of variation of haplogroup D1 in central Argentina, including new data and published information from other populations of South America. Almost 28% (107/388) of the individuals sampled in the region belong to haplogroup D1, whereas more than 52% of them correspond to the recently described subhaplogroup D1j (Bodner et al.: Genome Res 22 (2012) 811-820), defined by the presence of additional transitions at np T152C-C16242T-T16311C to the nodal D1 motif. This lineage was found at high frequencies across a wide territory with marked geographical-ecological differences. Additionally, 12 individuals present the mutation C16187T that defines the recently named subhaplogroup D1g (Bodner et al.: Genome Res 22 (2012) 811-820), previously described in populations of Patagonia and Tierra del Fuego. Based on our results and additional data already published, we postulate that the most likely origin of subhaplogroup D1j is the region of Sierras Pampeanas, which occupies the center and part of the northwestern portion of Argentina. The extensive yet restricted geographical distribution, the relatively large internal diversity, and the absence or low incidence of D1j in other regions of South America suggest the existence of an ancient metapopulation covering the Sierras Pampeanas, being this lineage its genetic signature. Further support for a scenario of local origin for D1j in the Sierras Pampeanas stems from the fact that early derivatives from a putative ancestral lineage carrying the transitions T16311C-T152C have only been found in this region, supporting the hypothesis that it might represent an ancestral motif previous to the appearance of D1j-specific change C16242T.
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http://dx.doi.org/10.1002/ajpa.22174DOI Listing
December 2012

Geographic patterns of craniofacial variation in pre-Hispanic populations from the Southern Cone of South America.

Hum Biol 2011 Aug;83(4):491-507

Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Cordoba, Algentina.

In this study we analyzed the relationships and patterns of spatial variation from morphological cranial variability of 17 population samples representing the ancient inhabitants of the central territory of Argentina (archaeologically known as "Sierras Centrales") and other pre-Hispanic populations from different ecological and geographic regions of the Southern Cone of South America (Argentina and Uruguay), based on the analysis of 10 craniofacial measurements. Results obtained from D2 distances can be interpreted as evidence of a similar biological history for the populations that inhabited the Sierras Centrales and the population of Santiago del Estero. Matrix correlation analysis demonstrated that craniometric variation is significantly influenced by geography, suggesting that populations that lived at lower geographical distance share more biological similarity. Global spatial autocorrelation analysis suggests a clinal pattern for the biological variation, although Moran's I estimates calculated for each variable demonstrate that only nasal height and breadth show this spatial pattern of variation. Results from spatial regression techniques show a significant effect of altitude modeling nasal shape, in agreement with previous studies suggesting that nasal morphology is strongly influenced by environment variables.
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http://dx.doi.org/10.3378/027.083.0404DOI Listing
August 2011

Brief communication: Restricted geographic distribution for Y-Q* paragroup in South America.

Am J Phys Anthropol 2009 Nov;140(3):578-82

Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT- CONICET-La Plata 1900, Argentina.

We analyzed 21 paragroup Q* Y chromosomes from South American aboriginal and urban populations. Our aims were to evaluate the phylogenetic status, geographic distribution, and genetic diversity in these groups of chromosomes and compare the degree of genetic variation in relation to Q1a3a haplotypes. All Q* chromosomes from our series and five samples from North American Q* presented the derivate state for M346, that is present upstream to M3, and determined Q1a3* paragroup. We found a restrictive geographic distribution and low frequency of Q1a3* in South America. We assumed that this low frequency could be reflecting extreme drift effects. However, several estimates of gene diversity do not support the existence of a severe bottleneck. The mean haplotype diversity expected was similar to that for South American Q1a3* and Q1a3a (0.478 and 0.501, respectively). The analysis of previous reports from other research groups and this study shows the highest frequencies of Q* for the West Corner and the Grand Chaco regions of South America. At present, there is no information on whether the phylogenetic status of Q* paragoup described in previous reports is similar to that of Q1a3* paragroup though our results support this possibility.
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http://dx.doi.org/10.1002/ajpa.21133DOI Listing
November 2009

Incidence and distribution of Native American mtDNA haplogroups in central Argentina.

Hum Biol 2009 Feb;81(1):59-69

Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

We report the incidence and distribution of Native American mtDNA haplogroups in nine villages across the Sierras Centrales archeological area, located in central Argentina. The aims of the study were (1) to investigate the relative incidence of native maternal lineages, (2) to determine whether or not the homogeneous pattern observed in a previous study persists at this larger scale, and (3) to ascertain the genetic affinities between the studied population and other native populations of the Southern Cone of South America. Of the 310 individuals from whom DNA was extracted, 249 (80.3%) were assigned to one of the founding native American haplogroups. This finding confirms the persistence at high prevalence of native maternal lineages in the rural populations of central Argentina. The haplogroup distribution is homogeneous in the population samples from Córdoba province, with haplogroups C and D always found at the highest frequencies. The sample from San Luis province, Tilisarao, presents a different genetic pattern, with haplogroups A and B being the most frequent. Principal components analysis and SAMOVA at the regional level show that the Córdoba, Patagonia, and Tierra del Fuego populations cluster together, which suggests a common origin.
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http://dx.doi.org/10.3378/027.081.0105DOI Listing
February 2009

Linkage disequilibrium patterns and genetic structure of Amerindian and non-Amerindian Brazilian populations revealed by long-range X-STR markers.

Am J Phys Anthropol 2009 Jul;139(3):404-12

Laboratório de Perícias, Instituto Geral de Perícias, Porto Alegre, RS, Brazil.

The extent of X-chromosome linkage disequilibrium (LD) was studied in a southern Brazilian population, and in a pool of samples from Amerindian populations. For this purpose, 11 microsatellites, located mostly in a Xq region comprising approximately 86 Mb was investigated. The lower Amerindian gene diversity associated with significant differences between the populations studied indicated population structure as the main cause for the higher LD values in the Amerindian pool. On the other hand, the LD levels of the non-Amerindian Brazilian sample, although less extensive than that of the Amerindians, were probably determined by admixture events. Our results indicated that different demographic histories have significant effects on LD levels of human populations, and provide a first approach to the X-chromosome ancestry of Amerindian and non-Amerindian Brazilian populations, being valuable for future studies involving mapping and population genetic studies.
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http://dx.doi.org/10.1002/ajpa.20998DOI Listing
July 2009

Autosomal STR genetic variability in the Gran Chaco native population: Homogeneity or heterogeneity?

Am J Hum Biol 2008 Nov-Dec;20(6):704-11

Departamento de Genética, Universidade Federal do Rio Grande do Sul, 91501-970 Porto Alegre, RS, Brazil.

To investigate the population structure and variation in Gran Chaco's Amerindian population, data from 15 short tandem repeats (STRs) were determined in 128 individuals from three tribes of the Argentinean part of this region. STR genotypic differences, structure analysis, and multidimensional plot for the D(A) distances indicated that (1) Wichí from the Chaco Province are genetically distinct from the other populations, but still preserve a fair amount of genetic similarity with Wichí from Formosa; (2) the Toba populations studied are genetically indistinguishable; and (3) Toba subjects from Formosa are similar to the Pilagá of the same linguistic group (Guaykurú) and to the Wichí from Formosa who speak a Mataco language. This similarity could be due to their past mobility and the custom of absorbing females taken as prisoners from groups raided by them. Language, geography, and genetics seem to play similar roles in determining the population structure of these groups. Analyses of molecular variance and G(ST)' values calculated considering three South American regions indicated that the Argentinean Chaco is genetically homogeneous; addition of the Ayoreo Amerindians of the Paraguayan Chaco, however, led to diversity values that are not much different from those of South Amerindians in general. The present data contribute to efforts that try to understand in what way groups with diverse sociocultural settings (tribal, agricultural, and industrial) differ in genetic structure.
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http://dx.doi.org/10.1002/ajhb.20798DOI Listing
January 2009

Distribution of a 9.1-kb insertion-deletion polymorphism among native and admixed populations from Argentina.

Hum Biol 2006 Dec;78(6):743-8

Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Hipólito Yrigoyen 174, Córdoba 5000, Argentina.

We studied five population samples from Argentina, four drawn from Native American groups of the northeast region (Wichí, Pilagá, Toba, and Mbyá-Guaraní) and one from two small villages of the Córdoba province. In this study we report genotypes and allele frequencies of the 9.1-kb insertion-deletion polymorphism located on chromosome 22. The frequency of the deletion allele ranges from 0.276 in the Mbyá-Guaraní to 0.470 in the Pilagá. The coefficient of population differentiation is fairly low (F(ST) = 0.013), does not reflect any geographic or linguistic pattern, and seems to be more related to stochastic processes than to directional forces.
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http://dx.doi.org/10.1353/hub.2007.0009DOI Listing
December 2006

Human colonization of the central territory of Argentina: design matrix models and craniometric evidence.

Am J Phys Anthropol 2007 Aug;133(4):1060-6

Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

In this study we test several hypotheses about the peopling of the central territory of Argentina, archaeologically known as Sierras Centrales, by testing the association between four alternative models of the peopling of the area and cranial morphological variation through distance and matrix correlation analyses. Our results show that the ancient inhabitants of Sierras Centrales demonstrated close morphological similarities with the Patagonian and Tierra del Fuego populations. Moreover, the correlation and partial correlation analyses suggest that the peopling of the Sierras Centrales most likely took place as a migratory wave proceeding from the present area of Northeastern Argentina, and continued southward to Patagonia and Tierra del Fuego.
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http://dx.doi.org/10.1002/ajpa.20634DOI Listing
August 2007

Y-chromosomal evidence for a founder effect in Mbyá-guaraní Amerindians from northeast Argentina.

Hum Biol 2006 Oct;78(5):635-9

Unidad CEPROCOR, Agencia Córdoba Ciencia, Córdoba, Argentina.

To assess the paternal history of the Mbyá-Guaraní Amerindians of northeast Argentina, we examined the genetic variation in seven Y-chromosome loci: the binary marker M3 at locus DYS199, and six short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, and DYS393). The most striking finding is the high frequency among the Mbyá-Guaraní of Q3 lineages with the usually rare alleles DYS391*11 and DYS393*11, which could be the result of a founder effect, given the recent history of the population.
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http://dx.doi.org/10.1353/hub.2007.0000DOI Listing
October 2006

Is the genetic structure of Gran Chaco populations unique? Interregional perspectives on native South American mitochondrial DNA variation.

Am J Phys Anthropol 2006 Sep;131(1):108-19

School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona 85287, USA.

This study reevaluates the hypothesis in Demarchi et al. (2001 Am. J. Phys. Anthropol. 115:199-203) that Gran Chaco peoples demonstrate a unique pattern of genetic diversity due to a distinct regional population history. Specifically, they found populations in the central part of the Gran Chaco, or Central Chaco, to have higher within- and lower between-population mitochondrial DNA (mtDNA) haplogroup frequency variation compared to populations in other South American regions. To test this hypothesis of regional uniqueness, we applied analytical and simulation methods to mtDNA first hypervariable (HVI) region sequence data from a broad set of comparative South and Central American population samples. Contrary to the results of Demarchi et al. (2001 Am. J. Phys. Anthropol. 115:199-203), we found that the Gran Chaco's regional within-population diversity is about average among regions, and populations are highly differentiated from each other. When we limited the scale of analysis to the Central Chaco, a more localized subregion of the Gran Chaco, our results fell more in line with the original findings of Demarchi et al. (2001 Am. J. Phys. Anthropol. 115:199-203). Still, we conclude that neither the Gran Chaco regional pattern, nor the Central Chaco subregional pattern, is unique within South America. Nonetheless, the Central Chaco pattern accords well with the area's history, including pre-European contact lifeways and the documented historical use of the area as an interregional crossroads. However, we cannot exclude post-European contact disruption of traditional mating networks as an equally plausible explanation for the observed diversity pattern. Finally, these results additionally inform broader models of South American genetic diversity. While other researchers proposed an east-west continental division in patterns of genetic variation (e.g., Fuselli et al. 2003 Mol. Biol. Evol. 20:1682-1691), we found that in the geographically intermediate Central Chaco, a strict east-west divide in genetic variation breaks down. We suggest that future genetic characterizations of the continent, and subsequent interpretations of evolutionary history, involve a broad regional sampling of South American populations.
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http://dx.doi.org/10.1002/ajpa.20410DOI Listing
September 2006

Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska.

Am J Hum Biol 2005 Sep-Oct;17(5):593-600

Museo de Antropología, Facultad de Filosofia y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

Apoproteins (also known as apolipoproteins) have been studied extensively because of their role in lipid transport, association between specific genotypes and elevated serum lipid levels, and increased risk of heart disease. There is considerable genetic variation in the geographic distributions of these markers, with a north-south cline of the APOE*4 allele observed in Europe by Lucotte et al. ([1997] Hum Biol 69:253-262). This study compares the frequencies of seven APO (APOA1 -75 bp, APOA1 +83 bp, APOB Ins/Del, APOB XbaI, APOC3 SstI, and APOE) and LPL loci in Mennonite populations from Kansas and Nebraska. In total, 277 individuals were sampled from Goessel, Meridian, Garden View, and Lone Tree in 2002-2004. In addition, DNA samples that were collected in 1981 from Henderson, Nebraska, were genotyped for the seven APO and LPL loci. Of the seven APO and LPL loci tested, only one locus, APOB XbaI, departed significantly from Hardy-Weinberg equilibrium, with an unexpected excess of observed heterozygotes. The frequencies of the several APO loci are unique among the Mennonites, separating them from other European populations. A bidimensional scaling representation of Reynold's co-ancestry distances based on allelic frequencies of the seven APO and LPL markers in five Mennonite congregations fails to represent schematically the known patterns of fission. It is unclear whether the observed patterns are due to selection operating on these loci or whether genetic drift, small populations sizes, or a lack of statistical power of these biallelic loci distort the observed genetic relationship among congregations.
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http://dx.doi.org/10.1002/ajhb.20425DOI Listing
November 2005

APOE polymorphism distribution among Native Americans and related populations.

Ann Hum Biol 2005 May-Jun;32(3):351-65

Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba, Argentina.

Background: Apolipoprotein E (apoE, protein; APOE, gene) plays a central role in lipid metabolism. Three common alleles, E*2, E*3 and E*4 have quantitative effects on lipid and lipoproteins levels, which are major risk determinants of cardiovascular diseases in several populations. Given their clinical significance, it is of interest to know the distribution of APOE variants in populations from diverse ethnic groups, as well as to determine if this polymorphism presents variations that might be associated with given evolutionary factors.

Aim: We report the distribution of APOE polymorphisms in Native American populations from South America, comparing it with other native populations of the Americas and Siberia.

Subjects And Methods: The sample consisted of 315 individuals from nine Native American populations living at subtropical latitudes of Argentina, Brazil and Paraguay. The extended analysis included 50 populations across South and North America, Greenland and Siberia. The geographic patterns of the variation were investigated through correlation analysis, spatial autocorrelation and analysis molecular of variance (AMOVA).

Results: The incidence of the most common allele (APOE*3) in the sample analysed ranged from 0.78 to 0.98. The second allele in prevalence, APOE*4, varied from 0.00 to 0.17. The rare allele APOE*2 was found in five of the nine populations investigated. This variant was found in a male with both maternal and paternal Native American lineages, suggesting that this allele is present in Native Americans and hence should not be used as an indicator of admixture. APOE*3 and APOE*4 present, respectively, positive and negative associations with latitude, although the pattern is much more pronounced in the Northern Hemisphere than in South America. APOE*2 increases its frequency with latitude but this pattern is statistically significant only in South America.

Conclusion: The overall APOE spatial pattern seems, in general, compatible with a directional demographic expansion which occurred in north-eastern Asia and much of the New World. The APOE*2 allele shows this pattern in South America but a random distribution in the Northern Hemisphere, suggesting that the possibility of selection should not be discarded.
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http://dx.doi.org/10.1080/03014460500097237DOI Listing
December 2005

Genetic structure and gene flow in Gran Chaco populations of Argentina: evidence from Y-chromosome markers.

Hum Biol 2004 Jun;76(3):413-29

Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, and Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba, Argentina.

The Gran Chaco region of central South America has been settled by humans for only the last 4,000-5,000 years. To investigate population structure and variation in this region's indigenous population, we scored males from tribes of the Argentinean part of the Gran Chaco (Pilagá, Wichí, and Toba, representing two major language groups, the Mataco and Guaycurú) for a number of Y-chromosome polymorphisms. The markers included eight microsatellites (DYS19, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, and DYS439) and the unique native American single nucleotide polymorphism, DYS199. Sixty males (77%) from the total sample carried the DYS199T chromosome, and these were the focus of the present analysis. Unlike most other native Americans, Gran Chaco males show a moderate level of diversity at the DYS19 locus but still less than that seen in non-native Americans. The FST value for Y-chromosome markers in Gran Chaco was 0.107, a value that is more than double that found for mtDNA haplogroups in the same tribes but is not particularly high compared with other Y-chromosome studies. Phylogenetic trees based on all eight microsatellites showed relatively poor correlation of the tribes with either geography or language, and this is possibly explained by their ecology. They are seasonal hunters living in small bands, and under such circumstances drift will be a powerful evolutionary force. An UPGMA tree based on five microsatellites (DYS19, DYS390, DYS391, DYS392, and DYS393), however, showed a more positive relationship, suggesting that DYS437, DYS438, and DYS439 may behave differently from the other microsatellites. No association was found between maternal and paternal lineage distributions. The time to the most recent common ancestor of the DYS199T chromosome is calculated to lie between 13,000 and 26,000 years. This range is consistent with estimates from other Y-chromosome studies as well as with estimates from mtDNA and the archeology of the colonization of South America. We conclude that the male lineages present in the contemporary Gran Chaco population reflect the level of diversity found in South America and that the region's male founders did not carry a restricted gene pool.
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http://dx.doi.org/10.1353/hub.2004.0043DOI Listing
June 2004

Patterns of ethnic, linguistic, and geographic heterogeneity of palmar interdigital ridge counts in the Indian subcontinent.

Hum Biol 2004 Apr;76(2):211-28

Indian Statistical Institute, Calcutta 700 035, India.

Published data on palmar interdigital ridge counts (a-b, b-c, and c-d) among 57 populations from the Indian subcontinent were analyzed with reference to ethnic, socioeconomic, linguistic, and geographic affiliations of the studied populations. The spatial autocorrelation analysis suggests significant correlation between dermatoglyphic and geographic distances. The congruence with the ethnic semblance of the groups is also apparent in the data, and, in fact, the multiresponse permutation procedure did suggest highly significant within-group homogeneity, confirming the biological validity of the social and ethnic criteria used in the analysis. The plots of populations on the first two principal components, accounting for 92% of the total variance, complement and support the results based on the other analyses, which show certain ethnic and geographic patterns. These findings can serve as baseline information for future studies on population variation in India, particularly studies based on molecular genetic markers, a trend that has already gained momentum.
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http://dx.doi.org/10.1353/hub.2004.0037DOI Listing
April 2004