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Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina: Native American, African and European genetic ancestries in Argentina

View ORCID ProfilePierre Luisi, View ORCID ProfileAngelina García, View ORCID ProfileJuan Manuel Berros, Josefina Motti, View ORCID ProfileDarío Demarchi, Emma Alfaro, View ORCID ProfileEliana Aquilano, Carina Argüelles, View ORCID ProfileSergio Avena, View ORCID ProfileGraciela Bailliet, Julieta Beltramo, Claudio M. Bravi, Mariela Cuello, View ORCID ProfileCristina Dejean, José Edgardo Dipierri, Laura S. Jurado Medina, View ORCID ProfileJosé Luis Lanata, View ORCID ProfileMarina Muzzio, View ORCID ProfileMaría Laura Parolin, Maia Pauro, Paula B. Paz Sepúlveda, View ORCID ProfileDaniela Rodríguez Golpe, María Rita Santos, Marisol Schwab, Natalia Silvero, View ORCID ProfileJeremias Zubrzycki, Virginia Ramallo, Hernán Dopazo
doi: https://doi.org/10.1101/2020.01.24.917898
Pierre Luisi
Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología, Argentina
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  • For correspondence: pierrespc@gmail.com dopazoh@gmail.com
Angelina García
Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología, ArgentinaInstituto de Antropología de Córdoba (IDACOR), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional de Córdoba, Córdoba, ArgentinaUniversidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Museo de Antropología, Córdoba, Argentina
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Juan Manuel Berros
Consejo Nacional de Investigaciones Científicas y Técnicas − Laboratorio de Análisis de Datos, Biocódices S.A, Buenos Aires, Argentina
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Josefina Motti
Núcleo de Estudios Interdisciplinarios de Poblaciones Humanas de Patagonia Austral (NEIPHA), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional del Centro de la Provincia de Buenos Aires, Quequén, Argentina
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Darío Demarchi
Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología, ArgentinaInstituto de Antropología de Córdoba (IDACOR), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional de Córdoba, Córdoba, ArgentinaUniversidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Museo de Antropología, Córdoba, Argentina
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Emma Alfaro
Instituto de Ecorregiones Andinas (INECOA), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional de Jujuy, ArgentinaInstituto de Biología de la Altura, Universidad Nacional de Jujuy, Argentina
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Eliana Aquilano
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Carina Argüelles
Grupo de Investigación en Genética Aplicada (GIGA), Facultad de Ciencias Exactas, Químicas y Naturales, Departamento de Genética, Instituto de Biología Subtropical (IBS) - Nodo Posadas, Universidad Nacional de Misiones (UNaM) – Consejo Nacional de Investigaciones Científicas y Técnicas, Posadas, ArgentinaCátedra de Biología Molecular. Carrera de Medicina. Facultad de Ciencias de la Salud. Universidad Católica de las Misiones (UCAMI), Posadas, Argentina
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Sergio Avena
Instituto de Ciencias Antropológicas (ICA), Facultad de Filosofía y Letras, Universidad de Buenos Aires, ArgentinaCentro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnóstico (CEBBAD), Universidad Maimónides, Buenos Aires, Argentina
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Graciela Bailliet
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Julieta Beltramo
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, ArgentinaLaboratorio de Análisis Comparativo de ADN, Corte Suprema de Justicia de la Provincia de Buenos Aires, La Plata, Argentina
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Claudio M. Bravi
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Mariela Cuello
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Cristina Dejean
Instituto de Ciencias Antropológicas (ICA), Facultad de Filosofía y Letras, Universidad de Buenos Aires, ArgentinaCentro de Estudios Biomédicos, Biotecnológicos, Ambientales y Diagnóstico (CEBBAD), Universidad Maimónides, Buenos Aires, Argentina
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José Edgardo Dipierri
Instituto de Biología de la Altura, Universidad Nacional de Jujuy, Argentina
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Laura S. Jurado Medina
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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José Luis Lanata
Instituto de Investigaciones en Diversidad Cultural y Procesos de Cambio (IIDyPCa), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional de Río Negro, San Carlos de Bariloche, Argentina
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Marina Muzzio
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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María Laura Parolin
Instituto de Diversidad y Evolución Austral (IDEAus), Consejo Nacional de Investigaciones Científicas y Técnicas − Centro Nacional Patagónico, Puerto Madryn, Argentina
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Maia Pauro
Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología, ArgentinaInstituto de Antropología de Córdoba (IDACOR), Consejo Nacional de Investigaciones Científicas y Técnicas − Universidad Nacional de Córdoba, Córdoba, ArgentinaUniversidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Museo de Antropología, Córdoba, Argentina
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Paula B. Paz Sepúlveda
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Daniela Rodríguez Golpe
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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María Rita Santos
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Marisol Schwab
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Natalia Silvero
Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas − Comisión de Investigaciones Científicas − Universidad Nacional de La Plata, Argentina
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Jeremias Zubrzycki
Laboratorio de Genómica. Biocódices S.A., Buenos Aires, Argentina
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  • ORCID record for Jeremias Zubrzycki
Virginia Ramallo
Instituto Patagónico de Ciencias Sociales y Humanas (IPCSH) − Consejo Nacional de Investigaciones Científicas y Técnicas - Centro Nacional Patagónico, Puerto Madryn, Argentina
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Hernán Dopazo
Departamento de Ecología, Genética y Evolución, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, ArgentinaConsejo Nacional de Investigaciones Científicas y Técnicas − Biocodices S.A., Buenos Aires, Argentina
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  • For correspondence: pierrespc@gmail.com dopazoh@gmail.com
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Abstract

We are at the dawn of the efforts to describe and understand the origins of genetic diversity in Argentina from high-throughput data. This knowledge is a primary step in the intent of deciphering the specific genetic bases of diseases and drug response in the country. Similarly to other populations across the Americas, genetic ancestry in Argentinean populations traces back 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 run population structure analyses at a sub-continental level. Concerning the European and African ancestries, we confirmed previous results about their main origins, and we provide new insights into the presence of other origins that reflect historical records. As for the Native American ancestry, leveraging genotype data for archaeological samples in the region in order to gain temporal depth in our analyses, 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 Chile/Patagonia, Lowlands and Central Andes geographic areas. The fourth one may be specific to the Central Western region of Argentina.

Identifying such component has not been straightforward since it is not well represented in any genomic data from the literature. Altogether, we provide useful insights into the multiple population groups from different continents that have contributed to present-days genetic diversity in Argentina. We encourage the generation of massive genotype data locally to further describe the genetic structure in Argentina.

Author Summary The human genetic diversity in Argentina reflects demographic mechanisms during which the European colonists invaded a territory where Native American populations were settled. During colonial period, the slave trade also prompted many African people to move to Argentina. Little is known about the origins of the Native American and African components in Argentinean populations nowadays.

Genotyping data for 87 admixed individuals throughout Argentina was generated and data from the literature was re-analyzed to shed light on this question. We confirmed that most of the European genetic ancestry comes from the South, although several individuals are related to Northern Europeans. We found that African origins in Argentina trace back from different regions. As for the Native American ancestry, we identified that it can be divided into four main components that correspond to Central Chile/Patagonia, Lowlands, Central Andes and Central Western region of Argentina. In order to understand the specificity of the genetic diversity in Argentina, we should not rely on knowledge generated in other populations. Instead, more effort is required to generate specific massive genomic knowledge at the local level.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted January 24, 2020.
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Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina: Native American, African and European genetic ancestries in Argentina
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Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina: Native American, African and European genetic ancestries in Argentina
Pierre Luisi, Angelina García, Juan Manuel Berros, Josefina Motti, Darío Demarchi, Emma Alfaro, Eliana Aquilano, Carina Argüelles, Sergio Avena, Graciela Bailliet, Julieta Beltramo, Claudio M. Bravi, Mariela Cuello, Cristina Dejean, José Edgardo Dipierri, Laura S. Jurado Medina, José Luis Lanata, Marina Muzzio, María Laura Parolin, Maia Pauro, Paula B. Paz Sepúlveda, Daniela Rodríguez Golpe, María Rita Santos, Marisol Schwab, Natalia Silvero, Jeremias Zubrzycki, Virginia Ramallo, Hernán Dopazo
bioRxiv 2020.01.24.917898; doi: https://doi.org/10.1101/2020.01.24.917898
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Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina: Native American, African and European genetic ancestries in Argentina
Pierre Luisi, Angelina García, Juan Manuel Berros, Josefina Motti, Darío Demarchi, Emma Alfaro, Eliana Aquilano, Carina Argüelles, Sergio Avena, Graciela Bailliet, Julieta Beltramo, Claudio M. Bravi, Mariela Cuello, Cristina Dejean, José Edgardo Dipierri, Laura S. Jurado Medina, José Luis Lanata, Marina Muzzio, María Laura Parolin, Maia Pauro, Paula B. Paz Sepúlveda, Daniela Rodríguez Golpe, María Rita Santos, Marisol Schwab, Natalia Silvero, Jeremias Zubrzycki, Virginia Ramallo, Hernán Dopazo
bioRxiv 2020.01.24.917898; doi: https://doi.org/10.1101/2020.01.24.917898

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