Mitochondrial DNA polymorphisms in Chilean aboriginal populations: Implications for the peopling of the southern cone of the continent

Abstract

The mitochondrial DNAs (mtDNAs) from individuals belonging to three Chilean tribes, the Mapuche, the Pehuenche, and the Yaghan, were studied both by RFLP analysis and D-loop (control region) sequencing. RFLP analysis showed that 3 individuals (1.3%) belonged to haplogroup A, 19 (8%) to haplogroup B, 102 (43%) to haplogroup C, and 113 (47.7%) to haplogroup D. Among the 73 individuals analyzed by D-loop sequencing, we observed 37 different haplotypes defined by 52 polymorphic sites. Joint analysis of data obtained by RFLP and sequencing methods demonstrated that, regardless of the method of analysis, the mtDNA haplotypes of these three contemporary South American aborigine groups clustered into four main haplogroups, in a way similar to those previously described for other Amerindians. These results further revealed the absence of haplogroup A in both the Mapuche and Yaghan as well as the absence of haplogroup B in the Yaghan. These results suggest that the people of Tierra del Fuego are related to tribes from south-central South America.

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B

“…22 The haplogroup of patient 1 was D1g; patients 2, 4 and 5 had the C1b13 haplogroup; and patients 3 and 6 had the B2i2 and C1b haplogroups, respectively. Haplogroups D1g, B2i2 and C1b13 were recently described and are very frequent lineages in populations of the south central region of Chile and southern Argentina.…”

“…26 Finally, the fact that the six homozygous p.(Ala359Asp) patients studied carried a maternal Analysis of a Niemann-Pick disease type B variant M Acuña et al native southern corn lineage mtDNA is also consistent with a Native American origin of the variant. 22,24 The specific, causal effect of the p.(Ala359Asp) variant on ASM function has not been studied previously. According to bioinformatic modeling of the ASM protein, alanine 359 forms part of, or is located near, the substrate-binding region of this hydrolase.…”

Gender bias in the multiethnic genetic composition of central Argentina

“…There are other interesting matches for the D1 haplotypes of Córdoba. Haplotype C16187T T16189C T16209C C16223T T16325C T16362C appears four times in the database, three of them in the aboriginal and in the general Chilean population (Horai et al 1993;Moraga et al 2000) and one in the ancient Kaweskar DNA samples (Patagonia-Tierra del Fuego; South of Argentina, and Chile) studied by García-Bour et al (2004). As shown in Table 2, for the sequence range 16090-16385, there are 24 (out of 42) different Native American haplotypes in Córdoba.…”

“…Five out of nine of the A2 haplotypes match with the basal A2 European and Native American samples plus the one from Córdoba analyzed in this study, whereas the nested small PCA plot includes three additional sub-Saharan African samples. References for population samples are as follows: a Africa (green dots): Mozambique (Salas et al 2002), Angola (Plaza et al 2004), Cabinda (Beleza et al 2005); b Europe (blue dots): Italy (Bini et al 2003), Galicia from Spain (Salas et al 1998), and Germany (Lutz et al 1998); and c America (red dots): Mexico (Green et al 2000), Mapuche from Chile (Moraga et al 2000), Guarani Kaiowá from Brazil (Marrero et al 2007), Coya (Á lvarez-Iglesias et al 2007), Toba and Wichí from Argentina (Cabana et al 2006), Navajo (Monson et al 2002), Ayoreo from Bolivia and Paraguay (Dornelles et al 2004), Ngobe from Panamá (Kolman et al 1995), Córdoba (this study) …”

Ecological and evolutionary factors in dental morphological diversification among modern human populations from southern South America

“…Because several works have proposed a geographical structure of evolutionary relationships in southern South America (e.g. Moraga et al 2000), this procedure allowed us to confirm the results from ordination of evolutionary relationships calculated with mtDNA data (table 1; for a similar approach see Hansen et al 2000;Felsenstein 2002). The Procrustes method scales and rotates the ordinations using a minimum squared differences criterion.…”