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2. Early human dispersals within the Americas

Author

Moreno-Mayar, J Víctor, Vinner, Lasse, de Barros Damgaard, Peter, de la Fuente, Constanza, Chan, Jeffrey, Spence, Jeffrey P, Allentoft, Morten E, Vimala, Tharsika, Racimo, Fernando, Pinotti, Thomaz, Rasmussen, Simon, Margaryan, Ashot, Iraeta Orbegozo, Miren, Mylopotamitaki, Dorothea, Wooller, Matthew, Bataille, Clement, Becerra-Valdivia, Lorena, Chivall, David, Comeskey, Daniel, Devièse, Thibaut, Grayson, Donald K, George, Len, Harry, Harold, Alexandersen, Verner, Primeau, Charlotte, Erlandson, Jon, Rodrigues-Carvalho, Claudia, Reis, Silvia, Bastos, Murilo QR, Cybulski, Jerome, Vullo, Carlos, Morello, Flavia, Vilar, Miguel, Wells, Spencer, Gregersen, Kristian, Hansen, Kasper Lykke, Lynnerup, Niels, Mirazón Lahr, Marta, Kjær, Kurt, Strauss, André, Alfonso-Durruty, Marta, Salas, Antonio, Schroeder, Hannes, Higham, Thomas, Malhi, Ripan S, Rasic, Jeffrey T, Souza, Luiz, Santos, Fabricio R, Malaspinas, Anna-Sapfo, Sikora, Martin, Nielsen, Rasmus, Song, Yun S, Meltzer, David J, and Willerslev, Eske

Subjects
Clinical Research, Datasets as Topic, Asia, Eastern, Genome, Human, Genomics, Human Migration, Humans, Indians, North American, North America, Polymorphism, Single Nucleotide, Population Dynamics, Siberia, South America, General Science & Technology
Abstract

Studies of the peopling of the Americas have focused on the timing and number of initial migrations. Less attention has been paid to the subsequent spread of people within the Americas. We sequenced 15 ancient human genomes spanning from Alaska to Patagonia; six are ≥10,000 years old (up to ~18× coverage). All are most closely related to Native Americans, including those from an Ancient Beringian individual and two morphologically distinct "Paleoamericans." We found evidence of rapid dispersal and early diversification that included previously unknown groups as people moved south. This resulted in multiple independent, geographically uneven migrations, including one that provides clues of a Late Pleistocene Australasian genetic signal, as well as a later Mesoamerican-related expansion. These led to complex and dynamic population histories from North to South America.

Published
2018

6. Second GHEP-ISFG exercise for DVI: “DNA-led” victims’ identification in a simulated air crash

Author

Vullo, Carlos M., Catelli, Laura, Ibarra Rodriguez, Adriana A., Papaioannou, Aikaterini, Merino, J. Carlos Álvarez, Lopez-Parra, AM, Gaviria, Aníbal, Baeza-Richer, Carlos, Romanini, Carola, González-Moya, Esperanza, Casals, Ferran, Calafell, Francesc, Berardi, Gabriela, Iannacone, Gian Carlo, Vicuña Giraldo, Gloria C., Zorba, Gulbanu K., Boschi, Ilaria, Olarte, Jane Valdivia, Ruiz Gomez, Juan E., Acierno, Juan Pablo, Soto, Manuel López, Miranda, Manuel Velázquez, García King, Marco D., Marrucci, Maria Alessandra, Porto, Maria J., Piñero, Mariana Herrera, Aler, Mercedes, Stephenson Ojea, Mishel M., Navarrete, Santiago Cobos, Toscanini, Ulises, Saragoni, Victor G., Bozzo, Walter, Posada Posada, Yeny C., Bajunovic, Zlatan, Solla, Lourdes Prieto, and Parsons, Thomas

Published
2021
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7. Second GHEP-ISFG exercise for DVI: 'DNA-led' victims' identification in a simulated air crash

Author

Vullo, Carlos M., López Parra, Ana María, Baeza Richer, Carlos, Parsons, Thomas, Vullo, Carlos M., López Parra, Ana María, Baeza Richer, Carlos, and Parsons, Thomas

Abstract

The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees -some of which deficient-including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report t, Depto. de Medicina Legal, Psiquiatría y Patología, Fac. de Medicina, TRUE, pub

Published
2024

8. Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q.

Author

Köksal, Zehra, Børsting, Claus, Bailliet, Graciela, Burgos, Germán, Carvalho, Elizeu, Casas-Vargas, Andrea, Castillo, Adriana, Gomes, Marilia Brito, Martínez, Beatriz, Ossa, Humberto, Parolin, María Laura, Quiroz, Alfredo, Toscanini, Ulises, Usaquén, William, Velázquez, Irina F., Vullo, Carlos, Gusmão, Leonor, Pereira, Vania, and Olszewska, Marta

Abstract

Y‐chromosomal haplogroups and the Y‐SNPs defining them are relevant for the exploration of male lineages, inference of paternal ancestry, and reconstruction of migration pathways, to name a few. Currently, over 300,000 Y‐SNPs have been reported, defining 20 main haplogroups. However, ascertainment bias in the investigations has led to some haplogroups being overlooked, which hinders a representative depiction of certain populations and their migration events. For migration pattern analyses of the first settlers of the Americas, the Native American main founding lineage Q‐M3 needs to be further investigated to allow clear genetic differentiation of individuals of different ethnogeographic origins. To increase the resolution within this haplogroup, a total of 7.45 Mb of the Y chromosome of 59 admixed South Americans of haplogroup Q was targeted for sequencing using hybridization capture enrichment. Data were combined with 218 publicly available sequences of Central and South Americans of haplogroup Q. After rigorous data processing, variants not meeting the quality criteria were excluded and 4128 reliable Y‐SNPs were reported. A total of 2224 Y‐SNPs had previously unknown positions in the phylogenetic tree, and 1291 of these are novel. The phylogenetic relationships between the Y‐SNPs were established using the software SNPtotree in order to report a redesigned phylogenetic tree containing 300 branches, defined by 3400 Y‐SNPs. The new tree introduces 117 previously undescribed branches and is the most comprehensive phylogenetic tree of the Native American haplogroup Q lineages to date. The 214 sequences were assigned to 135 different low‐ to high‐resolution branches, while in the previous phylogenetic tree, only 195 sequences could be sorted into 14 low‐resolution branches with the same quality criteria. The improved genetic differentiation of subhaplogroup Q‐M3 has a great potential to resolve migration patterns of Native Americans. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Evaluation of mitogenome sequence concordance, heteroplasmy detection, and haplogrouping in a worldwide lineage study using the Precision ID mtDNA Whole Genome Panel

Author

Strobl, Christina, Churchill Cihlar, Jennifer, Lagacé, Robert, Wootton, Sharon, Roth, Chantal, Huber, Nicole, Schnaller, Lisa, Zimmermann, Bettina, Huber, Gabriela, Lay Hong, Seah, Moura-Neto, Rodrigo, Silva, Rosane, Alshamali, Farida, Souto, Luis, Anslinger, Katja, Egyed, Balazs, Jankova-Ajanovska, Renata, Casas-Vargas, Andrea, Usaquén, Wiliam, Silva, Dayse, Barletta-Carrillo, Claudia, Tineo, Dean Herman, Vullo, Carlos, Würzner, Reinhard, Xavier, Catarina, Gusmão, Leonor, Niederstätter, Harald, Bodner, Martin, Budowle, Bruce, and Parson, Walther

Published
2019
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15. GHEP-ISFG collaborative simulated exercise for DVI/MPI: Lessons learned about large-scale profile database comparisons

Author

Vullo, Carlos M., Romero, Magdalena, Catelli, Laura, Šakić, Mustafa, Saragoni, Victor G., Jimenez Pleguezuelos, María Jose, Romanini, Carola, Anjos Porto, Maria João, Puente Prieto, Jorge, Bofarull Castro, Alicia, Hernandez, Alexis, Farfán, María José, Prieto, Victoria, Alvarez, David, Penacino, Gustavo, Zabalza, Santiago, Hernández Bolaños, Alejandro, Miguel Manterola, Irati, Prieto, Lourdes, and Parsons, Thomas

Published
2016
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18. The Ancestry of Eastern Paraguay: A Typical South American Profile with a Unique Pattern of Admixture

Author

Simão, Filipa, primary, Ribeiro, Julyana, additional, Vullo, Carlos, additional, Catelli, Laura, additional, Gomes, Verónica, additional, Xavier, Catarina, additional, Huber, Gabriela, additional, Bodner, Martin, additional, Quiroz, Alfredo, additional, Ferreira, Ana Paula, additional, Carvalho, Elizeu F., additional, Parson, Walther, additional, and Gusmão, Leonor, additional

Published
2021
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24. A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

Author

Gusmão, Leonor, Sánchez-Diz, Paula, Alves, Cíntia, Gomes, Iva, Zarrabeitia, María Teresa, Abovich, Mariel, Atmetlla, Ivannia, Bobillo, Cecilia, Bravo, Luisa, Builes, Juan, Cainé, Laura, Calvo, Raquel, Carvalho, Elizeu, Carvalho, Mónica, Cicarelli, Regina, Catelli, Laura, Corach, Daniel, Espinoza, Marta, García, Óscar, Malaghini, Marcelo, Martins, Joyce, Pinheiro, Fátima, João Porto, Maria, Raimondi, Eduardo, Riancho, Jose Antonio, Rodríguez, Amelia, Rodríguez, Anayanci, Rodríguez Cardozo, Belén, Schneider, Vicente, Silva, Sandra, Tavares, Celso, Toscanini, Ulises, Vullo, Carlos, Whittle, Martin, Yurrebaso, Iñaki, Carracedo, Ángel, and Amorim, António

Published
2009
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30. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome

Author

Vullo Carlos, Carracedo Ángel, Amigo Jorge, Romanini Carola, Borosky Alicia, Mosquera-Miguel Ana, Gómez-Carballa Alberto, Álvarez-Iglesias Vanesa, Catelli María, and Salas Antonio

Subjects
Genetics, QH426-470
Abstract

Abstract Background The genetic background of Argentineans is a mosaic of different continental ancestries. From colonial to present times, the genetic contribution of Europeans and sub-Saharan Africans has superposed to or replaced the indigenous genetic 'stratum'. A sample of 384 individuals representing different Argentinean provinces was collected and genotyped for the first and the second mitochondrial DNA (mtDNA) hypervariable regions, and selectively genotyped for mtDNA SNPs. This data was analyzed together with additional 440 profiles from rural and urban populations plus 304 from Native American Argentineans, all available from the literature. A worldwide database was used for phylogeographic inferences, inter-population comparisons, and admixture analysis. Samples identified as belonging to hg (hg) H2a5 were sequenced for the entire mtDNA genome. Results Phylogenetic and admixture analyses indicate that only half of the Native American component in urban Argentineans might be attributed to the legacy of extinct ancestral Argentineans and that the Spanish genetic contribution is slightly higher than the Italian one. Entire H2a5 genomes linked these Argentinean mtDNAs to the Basque Country and improved the phylogeny of this Basque autochthonous clade. The fingerprint of African slaves in urban Argentinean mtDNAs was low and it can be phylogeographically attributed predominantly to western African. The European component is significantly more prevalent in the Buenos Aires province, the main gate of entrance for Atlantic immigration to Argentina, while the Native American component is larger in North and South Argentina. AMOVA, Principal Component Analysis and hgs/haplotype patterns in Argentina revealed an important level of genetic sub-structure in the country. Conclusions Studies aimed to compare mtDNA frequency profiles from different Argentinean geographical regions (e.g., forensic and case-control studies) should take into account the important genetic heterogeneity of the country in order to prevent false positive claims of association in disease studies or inadequate evaluation of forensic evidence.

Published
2011
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35. Phylogeographic and genome-wide investigations of Vietnam ethnic groups reveal signatures of complex historical demographic movements

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Pischedda, Sara, Barral Arca, Ruth, Gómez Carballa, Alberto, Pardo Seco, Jacobo José, Catelli, M.L., Álvarez Iglesias, Vanesa, Cárdenas Paredes, Jorge Mario, Nguyen, N.D., Ha, H.H., Le, A.T., Martinón Torres, Federico, Vullo, Carlos, Salas Ellacuriaga, Antonio, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Pischedda, Sara, Barral Arca, Ruth, Gómez Carballa, Alberto, Pardo Seco, Jacobo José, Catelli, M.L., Álvarez Iglesias, Vanesa, Cárdenas Paredes, Jorge Mario, Nguyen, N.D., Ha, H.H., Le, A.T., Martinón Torres, Federico, Vullo, Carlos, and Salas Ellacuriaga, Antonio

Abstract

The territory of present-day Vietnam was the cradle of one of the world’s earliest civilizations, and one of the first world regions to develop agriculture. We analyzed the mitochondrial DNA (mtDNA) complete control region of six ethnic groups and the mitogenomes from Vietnamese in The 1000 Genomes Project (1000G). Genome-wide data from 1000G (~55k SNPs) were also investigated to explore different demographic scenarios. All Vietnamese carry South East Asian (SEA) haplotypes, which show a moderate geographic and ethnic stratification, with the Mong constituting the most distinctive group. Two new mtDNA clades (M7b1a1f1 and F1f1) point to historical gene flow between the Vietnamese and other neighboring countries. Bayesian-based inferences indicate a time-deep and continuous population growth of Vietnamese, although with some exceptions. The dramatic population decrease experienced by the Cham 700 years ago (ya) fits well with the Nam tiến (“southern expansion”) southwards from their original heartland in the Red River Delta. Autosomal SNPs consistently point to important historical gene flow within mainland SEA, and add support to a main admixture event occurring between Chinese and a southern Asian ancestral composite (mainly represented by the Malay). This admixture event occurred ~800 ya, again coinciding with the Nam tiến.

Published
2017

40. The complete mitogenome of a 500-year-old Inca child mummy

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Gómez Carballa, Alberto, Catelli, María Laura, Pardo Seco, Jacobo José, Martinón Torres, Federico, Roewer, Lutz, Vullo, Carlos, Salas Ellacuriaga, Antonio, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Gómez Carballa, Alberto, Catelli, María Laura, Pardo Seco, Jacobo José, Martinón Torres, Federico, Roewer, Lutz, Vullo, Carlos, and Salas Ellacuriaga, Antonio

Abstract

In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca Empire towards the southern cone. The sequence of its entire mitogenome was obtained. After querying a large worldwide database of mitogenomes (>28,000) we found that the Inca haplotype belonged to a branch of haplogroup C1b (C1bi) that has not yet been identified in modern Native Americans. The expansion of C1b into the Americas, as estimated using 203 C1b mitogenomes, dates to the initial Paleoindian settlements (~18.3 thousand years ago [kya]); however, its internal variation differs between Mesoamerica and South America. By querying large databases of control region haplotypes (>150,000), we found only a few C1bi members in Peru and Bolivia (e.g. Aymaras), including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire (Peruvian Andes). Overall, the results suggest that the profile of the mummy represents a very rare sub-clade that arose 14.3 (5–23.6) kya and could have been more frequent in the past. A Peruvian Inca origin for present-day C1bi haplotypes would satisfy both the genetic and paleo-anthropological findings.

Published
2015

42. Cuadro 33 : evidencias y encuentros en la búsqueda de compañeros desaparecidos de Mendoza

Author

Carrera, Mariú, Galarza, Mercedes Molina, Itúrbide, Alejandro, Ginarte, Anahí, Chiavazza, Horacio, Mansegosa, Daniela, Mafferra, Luis, Anzorena, Jorge, Araujo, Emiliano, Marino, Miguel, Vullo, Carlos, Ozollo, María Fernanda, Seydell, Pablo, Bajuk, Ana, and Rodríguez, José

Subjects
Crónicas, Antropología, Justicia, provincia) [Mendoza (Argentina], Memoria, Dictadura
Abstract

El Cuadro 33 es un sector del Cementerio de la Ciudad de Mendoza que, según registros y testimonios, siempre estuvo destinado a enterrar a los denominados NN. Desde 2010 hasta la fecha, el Equipo Argentino de Antropología Forense ha realizado seis excavaciones en busca de restos de compañeros desaparecidos durante la última dictadura cívico-militar. La búsqueda fue posible gracias a la investigación que realizaron durante años miembros de la Comisión Familiares de Detenidos Desaparecidos por Razones Políticas de Mendoza, y que fue presentada ante el Juzgado ofreciendo la evidencia necesaria para ordenar las excavaciones.

Published
2012

44. Identificación taxonómica mediante Citocromo b. Su aplicación a un caso arqueológico patagónico.

Author

Scheinsohn, Vivian, Fernández, Pablo Marcelo, Garrone, Florencia, Catelli, Laura, Longaray, Micaela, Romero, Magdalena, Salado, Mercedes, Fernández, Mercedes Grisel, Tchilinguirián, Pablo, and Vullo, Carlos

Abstract

Copyright of Intersecciones en Antropología is the property of Universidad Nacional del Centro de la Provincia de Buenos Aires, Facultad de Ciencias Sociales and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2016

48. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Catelli, María Laura, Álvarez Iglesias, Vanesa, Gómez Carballa, Alberto, Mosquera Miguel, Ana, Romanini, Carola, Borosky, Alicia, Amigo Lechuga, Jorge, Carracedo Álvarez, Ángel María, Vullo, Carlos, Salas Ellacuriaga, Antonio, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Catelli, María Laura, Álvarez Iglesias, Vanesa, Gómez Carballa, Alberto, Mosquera Miguel, Ana, Romanini, Carola, Borosky, Alicia, Amigo Lechuga, Jorge, Carracedo Álvarez, Ángel María, Vullo, Carlos, and Salas Ellacuriaga, Antonio

Abstract

Background The genetic background of Argentineans is a mosaic of different continental ancestries. From colonial to present times, the genetic contribution of Europeans and sub-Saharan Africans has superposed to or replaced the indigenous genetic 'stratum'. A sample of 384 individuals representing different Argentinean provinces was collected and genotyped for the first and the second mitochondrial DNA (mtDNA) hypervariable regions, and selectively genotyped for mtDNA SNPs. This data was analyzed together with additional 440 profiles from rural and urban populations plus 304 from Native American Argentineans, all available from the literature. A worldwide database was used for phylogeographic inferences, inter-population comparisons, and admixture analysis. Samples identified as belonging to hg (hg) H2a5 were sequenced for the entire mtDNA genome. Results Phylogenetic and admixture analyses indicate that only half of the Native American component in urban Argentineans might be attributed to the legacy of extinct ancestral Argentineans and that the Spanish genetic contribution is slightly higher than the Italian one. Entire H2a5 genomes linked these Argentinean mtDNAs to the Basque Country and improved the phylogeny of this Basque autochthonous clade. The fingerprint of African slaves in urban Argentinean mtDNAs was low and it can be phylogeographically attributed predominantly to western African. The European component is significantly more prevalent in the Buenos Aires province, the main gate of entrance for Atlantic immigration to Argentina, while the Native American component is larger in North and South Argentina. AMOVA, Principal Component Analysis and hgs/haplotype patterns in Argentina revealed an important level of genetic sub-structure in the country. Conclusions Studies aimed to compare mtDNA frequency profiles from different Argentinean geographical regions (e.g., forensic and case-control studies) should take into account the important genetic heterogene

Published
2011

50. The Genetic Legacy of the Pre-Colonial Period in Contemporary Bolivians

Author

Taboada-Echalar, Patricia, primary, Álvarez-Iglesias, Vanesa, additional, Heinz, Tanja, additional, Vidal-Bralo, Laura, additional, Gómez-Carballa, Alberto, additional, Catelli, Laura, additional, Pardo-Seco, Jacobo, additional, Pastoriza, Ana, additional, Carracedo, Ángel, additional, Torres-Balanza, Antonio, additional, Rocabado, Omar, additional, Vullo, Carlos, additional, and Salas, Antonio, additional

Published
2013
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