Darío A. Demarchi

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

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.

APOE polymorphism distribution among Native Americans and related populations

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.

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

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.

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

To investigate the population structure and variation in Gran Chacos 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 DA 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 GST′ 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. Am. J. Hum. Biol., 2008.

Spatial patterns of anthropometric variation in India with reference to geographic, climatic, ethnic and linguistic backgrounds.

Background: Anthropometric variation can be fruitfully utilized to investigate microevolutionary processes. Anthropometric variations in the Indian subcontinent based on stature and three indices (Cephalic Index, Nasal Index, and Total Facial Index) are highly variable and discriminative among populations across geographical regions. Aims: Anthropometric variation in stature, Cephalic Index (CI), Nasal Index (NI) and Total Facial Index (TFI) were investigated with respect to ethnic, linguistic, geographical and climatic affiliation, across the Indian subcontinent. Subjects and methods: Published data on anthropometric variations of 531 populations from the Indian subcontinent were analysed using discriminant analysis and spatial autocorrelation analysis. Results: Discriminant analysis of the four anthropometric variables shows that stature and NI are good discriminators for populations of different languages. Stature, NI and CI discriminate well among populations of diverse ethnic origin and climatic conditions in different regions. TFI is not a good discriminator for populations of diverse ethnic, linguistic and climatic attributes. Spatial autocorrelation analysis showed significant departure from randomness, suggesting geographic structuring. The Morans I estimate is positive and statistically significant for the four variables at low distances but exhibits significant negative association at higher values. Conclusion: The results suggest geographical clines for the four anthropometric variables and indicate the influence of population structure on the studied variables.

Absence of the 9-bp Deletion of Mitochondrial DNA in Pre-Hispanic Inhabitants of Argentina

We investigated the incidence of the Region V mitochondrial DNA 9-base-pair (bp) deletion from human remains recovered from several archaeological sites and contexts throughout Argentina. Of the 34 samples analyzed, 24 yielded DNA extractions that gave clear amplification results. All of the individuals carried two repeats of the 9 bp, one of which has been shown to be deleted in some individuals of Asian origin and defines mitochondrial lineage B. Although most of the modern Amerindian groups in the region exhibit the deletion in high frequencies, the absence of the 9-bp deletion among ancient populations of South America seems to be the rule rather than the exception, as was reported by several studies involving extinct populations. The evidence gathered until now suggests that the earliest settlers of this region of South America did not carry mitochondrial lineage B.

Incidence and Distribution of Native American mtDNA Haplogroups in Central Argentina

Abstract 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.

LINAJES PARENTALES AMERINDIOS EN POBLACIONES DEL NORTE DE CORDOBA

espanolSe da a conocer una practica mutilatoria post mortem que hasta el presente nunca fuera reportada en craneos de aborigenes del territorio nacional consistente en la ablacion completa de la cara. Se describen tres ejemplares que la presentan, todos procedentes de un sector de las margenes de la laguna Mar Chiquita (Cordoba). Dos de ellos difieren netamente de los craneos de los aborigenes que habitaban en la region a la llegada de los espanoles, tanto por su morfologia normal como por presentar una rara variedad de la deformacion circular intencional del neurocraneo. EnglishA post mortem mutilating practice consisting of the total ablation of the face, which has not been reported so far in skulls of aborigines of the national territory, is reported. Three examples from the Mar Chiquita lake banks (Cordoba) are described. Due to their morphology two of them are clearly different from aborigines from this region up to the Spainard arriving by their morphology and by their extrange variety of intentional circular deformation of the neurocranium.

Patterns of Ethnic, Linguistic, and Geographic Heterogeneity of Palmar Interdigital Ridge Counts in the Indian Subcontinent

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.

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