A Bayesian Approach to Genome/Linguistic Relationships in Native South Americans

The relationship between the evolution of genes and languages has been studied for over three decades. These studies rely on the assumption that languages, as many other cultural traits, evolve in a gene-like manner, accumulating heritable diversity through time and being subjected to evolutionary mechanisms of change. In the present work we used genetic data to evaluate South American linguistic classifications. We compared discordant models of language classifications to the current Native American genome-wide variation using realistic demographic models analyzed under an Approximate Bayesian Computation (ABC) framework. Data on 381 STRs spread along the autosomes were gathered from the literature for populations representing the five main South Amerindian linguistic groups: Andean, Arawakan, Chibchan-Paezan, Macro-Je? , and Tupı´. The results indicated a higher posterior probability for the classification proposed by J.H. Greenberg in 1987, although L. Campbell?s 1997 classification cannot be ruled out. Based on Greenberg?s classification, it was possible to date the time of Tupı´-Arawakan divergence (2.8 kya), and the time of emergence of the structure between present day major language groups in South America (3.1 kya).Fil: Guerra Amorim, Carlos Eduardo. Departamento de Genética, Instituto de Biociencias. Universidade Federal do Rio Grande do Sul; Brazil;Fil: Bisso-Machado, Rafael. Departamento de Genética, Instituto de Biociencias. Universidade Federal do Rio Grande do Sul; Brazil;Fil: Ramallo, Virginia. UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL; . Consejo Nacional de Invest.cientif.y Tecnicas. Centro Cientifico Tecnol.conicet - la Plata. Instituto Multidiscipl.de Biologia Celular (i); ArgentinaFil: Bortolini, María Cátira. UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL;Fil: Bonatto, Sandro L.. PONTIFICIA UNIVERSIDADE CATOLICA DO RIO GRANDE DO SUL;Fil: Salzano, Francisco Mauro. UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL;Fil: Hunemeier, Tábita. UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL

Contrasting patterns of RUNX2 repeat variations are associated with palate shape in phyllostomid bats and New World primates

Establishing the genetic basis that underlies craniofacial variability in natural populations is one of the main topics of evolutionary and developmental studies. One of the genes associated with mammal craniofacial variability is RUNX2, and in the present study we investigated the association between craniofacial length and width and RUNX2 across New World bats (Phyllostomidae) and primates (Catarrhini and Platyrrhini). Our results showed contrasting patterns of association between the glutamate/alanine ratios (Q/A ratio) and palate shape in these highly diverse groups. In phyllostomid bats, we found an association between shorter/broader faces and increase of the Q/A ratio. In New World monkeys (NWM) there was a positive correlation of increasing Q/A ratios to more elongated faces. Our findings reinforced the role of the Q/A ratio as a flexible genetic mechanism that would rapidly change the time of skull ossification throughout development. However, we propose a scenario in which the influence of this genetic adjustment system is indirect. The Q/A ratio would not lead to a specific phenotype, but throughout the history of a lineage, would act along with evolutionary constraints, as well as other genes, as a facilitator for adaptive morphological changes.Fil: Ferraz, Tiago. Universidade Federal do Rio Grande do Sul; Brasil. Universidade de Sao Paulo; BrasilFil: Rossoni, Daniela M.. Universidade de Sao Paulo; BrasilFil: Althoff, Sérgio L.. Universidade Regional de Blumenau; BrasilFil: Pissinatti, Alcides. Universidade Federal da Bahia; BrasilFil: Paixão Cortês, Vanessa R.. Centro de Primatologia do Rio de Janeiro; BrasilFil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Marroig, Gabriel. Universidade de Sao Paulo; BrasilFil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; BrasilFil: Gonçalves, Gislene L.. Universidad de Tarapacá de Arica; Chile. Universidade Federal do Rio Grande do Sul; BrasilFil: Hünemeier, Tábita. Universidade de Sao Paulo; Brasi

Predicting Physical Features and Diseases by DNA Analysis: Current Advances and Future Challenges

The 'omics' era and its concomitant technological advances have brought great insight into genetics. One of the most promising fields within human genetics is the prediction of physical traits from analysis of genetic material. Besides the predictive potential of DNA, the traceability of pathogenic agents in the human body through molecular analysis is also a field to be further exploited. In this review, we aim to discuss specific aspects of phenotypic prediction by analysing DNA, with special emphasis on normal variation, and the application of a technology known as ‘Forensic DNA Phenotyping’ (FDP). We also suggest the term ‘Phenotype Informative Markers’ (PIMs) to designate any molecular markers responsible for normal or pathological human phenotypic variation. In addition, we raise some recommendations related to forensic genetics, the molecular diagnosis of human diseases, and the traceability of pathogens in the human body, giving special emphasis to the need for validation of these tests with strict protocols. Some relevant concerns about privacy, ethics, and legality of such predictions have also been discussed. Finally, we look at perspectives on the use of epigenetic tools, and quote some examples of what has been done in this specific field.Fil: Silva de Cerqueira, Caio Cesar. Scientific Police Of Sao Paulo State; BrasilFil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Hünemeier, Tábita. Universidade de Sao Paulo; BrasilFil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Paschetta, Carolina Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Cintas, Celia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: González, Marina Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Schüler-faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil. National Institute of Medical Genetics Population; BrasilFil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentin

Contrasting Patterns of Nuclear and mtDNA Diversity in Native American Populations

We report an integrated analysis of nuclear (autosomal, X- and Y-chromosome) short tandem repeat (STR) data and mtDNA D-loop sequences obtained in the same set of 22 Native populations from across the Americas. A north to south gradient of decreasing population diversity was observed, in agreement with a settlement of the Americas from the extreme northwest of the continent. This correlation is stronger with "least cost distances," which consider the coasts as facilitators of migration. Continent-wide estimates of population structure are highest for the Y-chromosome and lowest for the autosomes, consistent with the effective size of the different marker systems examined. Population differentiation is highest in East South America and lowest in Meso America and the Andean region. Regional analyses suggest a deviation from mutation-drift equilibrium consistent with population expansion in Meso America and the Andes and population contraction in Northwest and East South America. These data hint at an early divergence of Andean and non-Andean South Americans and at a contrasting demographic history for populations from these regions.Instituto Multidisciplinario de Biología Celula

Reconstructing Native American population history

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved. One contentious issue is whether the settlement occurred by means of a single migration or multiple streams of migration from Siberia. The pattern of dispersals within the Americas is also poorly understood. To address these questions at a higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. Here we show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call First American. However, speakers of Eskimog-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan speakers on both sides of the Panama isthmus, who have ancestry from both North and South America. © 2012 Macmillan Publishers Limited. All rights reserved.Fil: Reich, David. Harvard Medical School; Estados Unidos. Massachusetts Institute of Technology; Estados UnidosFil: Patterson, Nick. Massachusetts Institute of Technology; Estados UnidosFil: Campbell, Desmond. Colegio Universitario de Londres; Reino Unido. The University Of Hong Kong; Hong KongFil: Tandon, Arti. Harvard Medical School; Estados Unidos. Massachusetts Institute of Technology; Estados UnidosFil: Mazieres, Stéphane. Colegio Universitario de Londres; Reino UnidoFil: Ray, Nicolas. Universidad de Ginebra; SuizaFil: Parra, Maria V.. Colegio Universitario de Londres; Reino Unido. Universidad de Antioquia; ColombiaFil: Rojas, Winston. Colegio Universitario de Londres; Reino Unido. Universidad de Antioquia; ColombiaFil: Duque, Constanza. Universidad de Antioquia; Colombia. Colegio Universitario de Londres; Reino UnidoFil: Mesa, Natalia. Universidad de Antioquia; Colombia. Colegio Universitario de Londres; Reino UnidoFil: García, Luis F.. Universidad de Antioquia; ColombiaFil: Triana, Omar. Universidad de Antioquia; ColombiaFil: Blair, Silvia. Universidad de Antioquia; ColombiaFil: Maestre, Amanda. Universidad de Antioquia; ColombiaFil: Dib, Juan C.. Fundación Salud Para El Tró Pico; ColombiaFil: Bravi, Claudio Marcelo. Colegio Universitario de Londres; Reino Unido. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Bailliet, Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires; ArgentinaFil: Hünemeier, Tábita. Colegio Universitario de Londres; Reino Unido. Universidade Federal do Rio Grande do Sul; BrasilFil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: Salzano, Francisco M.. Universidade Federal do Rio Grande do Sul; BrasilFil: Petzl Erler, María Luiza. Universidade Federal do Paraná; BrasilFil: Acuña Alonzo, Victor. National Institute Of Anthropology And History; MéxicoFil: Aguilar Salinas, Carlos. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Canizales-Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Tusié Luna, Teresa. Universidad Nacional Autónoma de México; MéxicoFil: Riba, Laura. Universidad Nacional Autónoma de México; MéxicoFil: Rodríguez Cruz, Maricela. Umae Hospital de Pediatría Centro Medico Nacional Siglo Xxi; MéxicoFil: Lopez Alarcón, Mardia. Umae Hospital de Pediatría Centro Medico Nacional Siglo Xxi; MéxicoFil: Coral Vazquez, Ramón. Instituto Politécnico Nacional; Méxic

Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10–6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10–10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.Fil: Romero Hidalgo, Sandra. Instituto Nacional de Medicina Genómica; MéxicoFil: Flores Rivera, José. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Rivas Alonso, Verónica. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Barquera, Rodrigo. Max Planck Institute For The Science Of Human History; Alemania. Instituto Nacional de Antropología e Historia; MéxicoFil: Villarreal Molina, María Teresa. Instituto Nacional de Medicina Genómica; MéxicoFil: Antuna Puente, Bárbara. Instituto Nacional de Medicina Genómica; MéxicoFil: Macias Kauffer, Luis Rodrigo. Universidad Nacional Autónoma de México; MéxicoFil: Villalobos Comparán, Marisela. Instituto Nacional de Medicina Genómica; MéxicoFil: Ortiz Maldonado, Jair. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Yu, Neng. American Red Cross; Estados UnidosFil: Lebedeva, Tatiana V.. American Red Cross; Estados UnidosFil: Alosco, Sharon M.. American Red Cross; Estados UnidosFil: García Rodríguez, Juan Daniel. Instituto Nacional de Medicina Genómica; MéxicoFil: González Torres, Carolina. Instituto Nacional de Medicina Genómica; MéxicoFil: Rosas Madrigal, Sandra. Instituto Nacional de Medicina Genómica; MéxicoFil: Ordoñez, Graciela. Neuroimmunología, Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Guerrero Camacho, Jorge Luis. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Treviño Frenk, Irene. American British Cowdray Medical Center; México. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Escamilla Tilch, Monica. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: García Lechuga, Maricela. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Tovar Méndez, Víctor Hugo. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Pacheco Ubaldo, Hanna. Instituto Nacional de Antropología E Historia. Escuela Nacional de Antropología E Historia; MéxicoFil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia. Escuela Nacional de Antropología E Historia; MéxicoFil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Bedoya Berrío, Gabriel. Universidad de Antioquia; ColombiaFil: Rothhammer, Francisco. Universidad de Tarapacá; ChileFil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino UnidoFil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Yunis, Edmond. Dana Farber Cancer Institute; Estados UnidosFil: Granados, Julio. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Corona, Teresa. Instituto Nacional de Neurología y Neurocirugía; Méxic

Development and internal validation of a multifactorial risk prediction model for gallbladder cancer in a high-incidence country

Since 2006, Chile has been implementing a gallbladder cancer (GBC) prevention program based on prophylactic cholecystectomy for gallstone patients aged 35 to 49 years. The effectiveness of this prevention program has not yet been comprehensively evaluated. We conducted a retrospective study of 473 Chilean GBC patients and 2137 population-based controls to develop and internally validate three GBC risk prediction models. The Baseline Model accounted for gallstones while adjusting for sex and birth year. Enhanced Model I also included the non-genetic risk factors: body mass index, educational level, Mapuche surnames, number of children and family history of GBC. Enhanced Model II further included Mapuche ancestry and the genotype for rs17209837. Multiple Cox regression was applied to assess the predictive performance, quantified by the area under the precision-recall curve (AUC-PRC) and the number of cholecystectomies needed (NCN) to prevent one case of GBC at age 70 years. The AUC-PRC for the Baseline Model (0.44%, 95%CI 0.42-0.46) increased by 0.22 (95%CI 0.15-0.29) when non-genetic factors were included, and by 0.25 (95%CI 0.20-0.30) when incorporating non-genetic and genetic factors. The overall NCN for Chileans with gallstones (115, 95%CI 104-131) decreased to 92 (95%CI 60-128) for Chileans with a higher risk than the median according to Enhanced Model I, and to 80 (95%CI 59-110) according to Enhanced Model II. In conclusion, age, sex and gallstones are strong risk factors for GBC, but consideration of other non-genetic factors and individual genotype data improves risk prediction and may optimize allocation of financial resources and surgical capacity.Fil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; AlemaniaFil: Scherer, Dominique. Ruprecht Karls Universitat Heidelberg; AlemaniaFil: Barahona Ponce, Carol. Ruprecht Karls Universitat Heidelberg; AlemaniaFil: Marcelain, Katherine. Universidad de Chile; ChileFil: Gárate Calderón, Valentina. Universidad de Chile; ChileFil: Waldenberger, Melanie. No especifíca;Fil: Morales, Erik. Universidad Católica de Maule; ChileFil: Rojas, Armando. Universidad Católica de Maule; ChileFil: Munoz, César. Universidad Católica de Maule; ChileFil: Retamales, Javier. Instituto Nacional del Cáncer; ChileFil: de Toro, Gonzalo. Universidad Austral de Chile; ChileFil: Barajas, Olga. Universidad de Chile; ChileFil: Rivera, María Teresa. Hospital del Salvador; ChileFil: Cortés, Analía. Hospital del Salvador; ChileFil: Loader, Denisse. Hospital Padre Hurtado; ChileFil: Saavedra, Javiera. Hospital Padre Hurtado; ChileFil: Gutiérrez, Lorena. Hospital San Juan de Dios; ChileFil: Ortega, Alejandro. Hospital Regional; ChileFil: Bertrán, Maria Enriqueta. Hospital Base de Valdivia; ChileFil: Bartolotti, Leonardo. Hospital Base de Valdivia; ChileFil: Gabler, Fernando. Hospital Clínico San Borja Arriarán; ChileFil: Campos, Mónica. Hospital Clínico San Borja Arriarán; ChileFil: Alvarado, Juan. Hospital Regional de Concepción - Dr. Guillermo Grant Benavente; ChileFil: Moisán, Fabricio. Hospital Regional de Concepción - Dr. Guillermo Grant Benavente; ChileFil: Spencer, Loreto. Hospital Regional de Concepción - Dr. Guillermo Grant Benavente; ChileFil: Nervi, Bruno. No especifíca;Fil: Carvajal Hausdorf, Daniel. Universidad del Desarrollo; ChileFil: Losada, Héctor. Universidad de La Frontera; ChileFil: Almau, Mauricio. Hospital de Rancagua; ChileFil: Fernández, Plinio. Hospital de Rancagua; ChileFil: Olloquequi, Jordi. Universidad de Barcelona; EspañaFil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; ChileFil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Bortolini, Maria Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: Acuña Alonzo, Victor. No especifíca;Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Ruiz-Linares, Andres. Colegio Universitario de Londres; Reino UnidoFil: Rothhammer, Francisco. Universidad de Tarapacá; ChileFil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; Alemani

Contrasting Patterns of Nuclear and mtDNA Diversity in Native American Populations

We report an integrated analysis of nuclear (autosomal, X- and Y-chromosome) short tandem repeat (STR) data and mtDNA D-loop sequences obtained in the same set of 22 Native populations from across the Americas. A north to south gradient of decreasing population diversity was observed, in agreement with a settlement of the Americas from the extreme northwest of the continent. This correlation is stronger with "least cost distances," which consider the coasts as facilitators of migration. Continent-wide estimates of population structure are highest for the Y-chromosome and lowest for the autosomes, consistent with the effective size of the different marker systems examined. Population differentiation is highest in East South America and lowest in Meso America and the Andean region. Regional analyses suggest a deviation from mutation-drift equilibrium consistent with population expansion in Meso America and the Andes and population contraction in Northwest and East South America. These data hint at an early divergence of Andean and non-Andean South Americans and at a contrasting demographic history for populations from these regions.Instituto Multidisciplinario de Biología Celula

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.Instituto Multidisciplinario de Biología Celula