Author
Antonio González-Martín
Other affiliations: Universidad Autónoma del Estado de Hidalgo, University of Barcelona
Bio: Antonio González-Martín is an academic researcher from Complutense University of Madrid. The author has contributed to research in topics: Population & Allele frequency. The author has an hindex of 16, co-authored 46 publications receiving 1076 citations. Previous affiliations of Antonio González-Martín include Universidad Autónoma del Estado de Hidalgo & University of Barcelona.
Papers
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TL;DR: STRUCTURE results and admixture estimations by means of LEADMIX software in Mestizo populations demonstrated genetic heterogeneity or asymmetric admixture throughout Mexico, displaying an increasing North-to-South gradient of Amerindian ancestry, and vice versa regarding the European component.
Abstract: Over the last 500 years, admixture among Amerindians, Europeans, and Africans, princi- pally, has come to shape the present-day gene pool of Mexicans, particularly Mestizos, who represent about 93% of the total Mexican population. In this work, we analyze the genetic data of 13 combined DNA index sys- tem-short tandem repeats (CODIS-STRs) in 1,984 unre- lated Mestizos representing 10 population samples from different regions of Mexico, namely North, West, Cen- tral, and Southeast. The analysis of molecular variance (AMOVA) test demonstrated low but significant differ- entiation among Mestizos from different regions (FST 5 0.34%; P 5 0.0000). Although the spatial analysis of molecular variance (SAMOVA) predicted clustering Mestizo populations into four well-delimited groups, the main differentiation was observed between Northwest when compared with Central and Southeast regions. In addition, we included analysis of individuals of Amerin- dian (Purepechas), European (Huelva, Spain), and African (Fang) origin. Thus, STRUCTURE analysis was performed identifying three well-differentiated ances- tral populations (k 5 3). STRUCTURE results and admixture estimations by means of LEADMIX software in Mestizo populations demonstrated genetic heteroge- neity or asymmetric admixture throughout Mexico, displaying an increasing North-to-South gradient of Amerindian ancestry, and vice versa regarding the European component. Interestingly, this distribution of Amerindian ancestry roughly reflects pre-Hispanic Native-population density, particularly toward the Mesoamerican area. The forensic, epidemiological, and evolutionary implications of these findings are dis- cussed herein. Am J Phys Anthropol 139:284-294,
174 citations
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National Autonomous University of Mexico1, University of British Columbia2, Texas A&M University3, Universidade Federal do Rio Grande do Sul4, Stanford University5, Spanish National Research Council6, CINVESTAV7, Federal University of São Paulo8, Cedars-Sinai Medical Center9, Complutense University of Madrid10, Pontifícia Universidade Católica do Rio Grande do Sul11, Mexican Social Security Institute12, Chinese Academy of Sciences13, National Institutes of Health14
TL;DR: This is the first report of a common functional variant exclusive to Native American and descent populations, which is a major determinant of HDL-C levels and may have contributed to the adaptive evolution of Native American populations.
Abstract: It has been suggested that the higher susceptibility of Hispanics to metabolic disease is related to their Native American heritage. A frequent cholesterol transporter ABCA1 (ATP-binding cassette transporter A1) gene variant (R230C, rs9282541) apparently exclusive to Native American individuals was associated with low high-density lipoprotein cholesterol (HDL-C) levels, obesity and type 2 diabetes in Mexican Mestizos. We performed a more extensive analysis of this variant in 4405 Native Americans and 863 individuals from other ethnic groups to investigate genetic evidence of positive selection, to assess its functional effect in vitro and to explore associations with HDL-C levels and other metabolic traits. The C230 allele was found in 29 of 36 Native American groups, but not in European, Asian or African individuals. C230 was observed on a single haplotype, and C230-bearing chromosomes showed longer relative haplotype extension compared with other haplotypes in the Americas. Additionally, single-nucleotide polymorphism data from the Human Genome Diversity Panel Native American populations were enriched in significant integrated haplotype score values in the region upstream of the ABCA1 gene. Cells expressing the C230 allele showed a 27% cholesterol efflux reduction (P< 0.001), confirming this variant has a functional effect in vitro. Moreover, the C230 allele was associated with lower HDL-C levels (P = 1.77 x 10(-11)) and with higher body mass index (P = 0.0001) in the combined analysis of Native American populations. This is the first report of a common functional variant exclusive to Native American and descent populations, which is a major determinant of HDL-C levels and may have contributed to the adaptive evolution of Native American populations.
136 citations
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TL;DR: Evidence of amodern Amerindian group from the Baja California Peninsula in Mexico, showing clearer affinities with Palaeoamerican remains than with modern Amerindians is presented, suggesting temporal continuity of the PalaeOamerican morphological pattern to the present.
Abstract: A current issue on the settlement of the Americas refers to the lack of morphological affinities between early Holocene human remains (Palaeoamericans) and modern Amerindian groups, as well as the degree of contribution of the former to the gene pool of the latter1,2,3,4,5,6. A different origin for Palaeoamericans and Amerindians is invoked to explain such a phenomenon3. Under this hypothesis, the origin of Palaeoamericans must be traced back to a common ancestor for Palaeoamericans and Australians, which departed from somewhere in southern Asia and arrived in the Australian continent and the Americas around 40,000 and 12,000 years before present, respectively. Most modern Amerindians are believed to be part of a second, morphologically differentiated migration3. Here we present evidence of a modern Amerindian group from the Baja California Peninsula in Mexico, showing clearer affinities with Palaeoamerican remains than with modern Amerindians. Climatic changes during the Middle Holocene probably generated the conditions for isolation from the continent, restricting the gene flow of the original group with northern populations, which resulted in the temporal continuity of the Palaeoamerican morphological pattern to the present.
130 citations
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TL;DR: Y-linked markers are suitable loci to analyze genetic diversity of human populations, offering knowledge of medical, forensic, and anthropological interest, and adding to the analysis data of Mexican Mestizos and Amerindians, and relevant worldwide populations.
Abstract: Y-linked markers are suitable loci to analyze genetic diversity of human populations, offering knowledge of medical, forensic, and anthropological interest. In a population sample of 206 Mestizo males from western Mexico, we analyzed two binary loci (M3 and YAP) and six Y-STRs, adding to the analysis data of Mexican Mestizos and Amerindians, and relevant worldwide populations. The paternal ancestry estimated in western Mexican-Mestizos was mainly European (60-64%), followed by Amerindian (25-21%), and African ( approximately 15%). Significant genetic heterogeneity was established between Mestizos from western (Jalisco State) and northern Mexico (Chihuahua State) compared with Mexicans from the center of the Mexican Republic (Mexico City), this attributable to higher European ancestry in western and northern than in central and southeast populations, where higher Amerindian ancestry was inferred. This genetic structure has important implications for medical and forensic purposes. Two different Pre-Hispanic evolutionary processes were evident. In Mesoamerican region, populations presented higher migration rate (N(m) = 24.76), promoting genetic homogeneity. Conversely, isolated groups from the mountains and canyons of the Western and Northern Sierra Madre (Huichols and Tarahumaras, respectively) presented a lower migration rate (N(m) = 10.27) and stronger genetic differentiation processes (founder effect and/or genetic drift), constituting a Pre-Hispanic population substructure. Additionally, Tarahumaras presented a higher frequency of Y-chromosomes without Q3 that was explained by paternal European admixture (15%) and, more interestingly, by a distinctive Native-American ancestry. In Purepechas, a special admixture process involving preferential integration of non-Purepecha women in their communities could explain contrary genetic evidences (autosomal vs. Y-chromosome) for this tribe.
107 citations
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TL;DR: Results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool.
Abstract: An evolutionary, diachronic approach to the phenotypic craniofacial pattern arisen in a human population after high levels of admixture and gene flow was achieved by means of geometric morphometrics. Admixture has long been studied after molecular data. Nevertheless, few efforts have been made to explain the morphological outcome in human craniofacial samples. The Spanish-Amerindian contact can be considered a good scenario for such an analysis. Here we present a comparative analysis of craniofacial shape changes observed between two putative ancestor groups, Spanish and precontact Aztecs, and two diachronic admixed groups, corresponding to early and late colonial periods from the Mexico's Central Valley. Quantitative shape comparisons of Amerindian, Spanish, and admixed groups were used to test the expectations of quantitative genetics for admixture events. In its simplest form, this prediction states that an admixed group will present phenotypic values falling between those of both parental groups. Results show that, in general terms, although the human skull is a complex, integrated structure, the craniofacial morphology observed fits the theoretical expectations of quantitative genetics. Thus, it is predictive of population structure and history. In fact, results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool. However, expectations are not straightforward when moderate shape changes are considered. Deviations detected at localized structures, such as the upper and lower face, highlight the evolution of a craniofacial pattern exclusively inherent to the admixed groups, indicating that quantitative characters might respond to admixture in a complicated, nondirectional way.
67 citations
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496 citations
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TL;DR: Medical genomics has focused almost entirely on those of European descent, but other ethnic groups must be studied to ensure that more people benefit, say researchers.
Abstract: Medical genomics has focused almost entirely on those of European descent. Other ethnic groups must be studied to ensure that more people benefit, say Carlos D. Bustamante, Esteban Gonzalez Burchard and Francisco M. De La Vega.
490 citations
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TL;DR: The discovery of interbreeding between anatomically modern humans and extinct hominins and the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide are among the breakthroughs.
Abstract: Advances in the sequencing and the analysis of the genomes of both modern and ancient peoples have facilitated a number of breakthroughs in our understanding of human evolutionary history. These include the discovery of interbreeding between anatomically modern humans and extinct hominins; the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide; and the characterization of many of the genetic adaptions of humans to local environmental conditions. Our interpretation of the evolutionary history and adaptation of humans is being transformed by analyses of these new genomic data.
467 citations
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University of Copenhagen1, University of Massachusetts Amherst2, University of California, Berkeley3, Wellcome Trust Sanger Institute4, Technical University of Denmark5, Pennsylvania State University6, La Trobe University7, Stanford University8, King Abdullah University of Science and Technology9, University of Cambridge10, Estonian Biocentre11, University of Tartu12, University of California, San Francisco13, Washington State University14, University of Porto15, University of Illinois at Urbana–Champaign16, Carlos III Health Institute17, University of Utah18, Science for Life Laboratory19, Aarhus University20, University College London21, University of Reading22, University of Bristol23, University of Guadalajara24, University of Bologna25, Oregon State University26, University of Paris27, University of Zurich28, St. John's University29, Max Planck Society30, University of California, Irvine31, University of Tarapacá32, University of Toulouse33, Novosibirsk State University34, Russian Academy of Sciences35, Kemerovo State University36, Bashkir State University37, North-Eastern Federal University38, Western Washington University39, Northwest Community College40, University of Western Ontario41, Simon Fraser University42, Laboratory of Molecular Biology43, University of Kansas44, University of California, Davis45, Texas A&M University46, Santa Barbara Museum of Natural History47, Southern Methodist University48
TL;DR: The results suggest that there has been gene flow between some Native Americans from both North and South America and groups related to East Asians and Australo-Melanesians, the latter possibly through an East Asian route that might have included ancestors of modern Aleutian Islanders.
Abstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericues and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
459 citations