16 results on '"Vullo, Carlos"'
Search Results
2. Early human dispersals within the Americas
- Author
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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
3. Second GHEP-ISFG exercise for DVI: 'DNA-led' victims' identification in a simulated air crash
- Author
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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
4. Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q.
- Author
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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
- Full Text
- View/download PDF
5. Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
- Author
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Köksal, Zehra, Burgos, Germán, Carvalho, Elizeu, Ossa, Humberto, Parolin, María Laura, Quiroz, Alfredo, Toscanini, Ulises, Vullo, Carlos, Børsting, Claus, Gusmão, Leonor, Pereira, Vania, Köksal, Zehra, Burgos, Germán, Carvalho, Elizeu, Ossa, Humberto, Parolin, María Laura, Quiroz, Alfredo, Toscanini, Ulises, Vullo, Carlos, Børsting, Claus, Gusmão, Leonor, and Pereira, Vania
- Abstract
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy. Recently, MPS based panels were introduced in the forensic genetics community for Y-SNP typing and identification of a broad range of haplogroups. The panels are based on an amplicon strategy and allow the detection of up to 15,600 Y-SNPs. The panels target up to 210,000 bps, which should be compared to the overall 8.9 Mbps comprising the unique regions of the non-recombining portion of the Y chromosome (NRY). We present an alternative approach of sequencing unique regions within the NRY using target enrichment probes and hybridization capture. A total of 359,954 probes were designed using the SureDesign software, representing 7.5 Mbps of the NRY. Library preparation and capture were performed using the Agilent SureSelect XT HS2 Target Enrichment method and sequencing was performed in a NovaSeq 6000 System. Besides individual barcodes, the method also included unique molecular barcodes for additional quality screening. The method was tested on admixed South Americans that carry a Y chromosome of haplogroup Q. We successfully identified novel variation that could potentially help refining haplogroup Q phylogeny.
- Published
- 2022
6. Testing the Ion AmpliSeq™ HID Y-SNP Research Panel v1 for performance and resolution in admixed South Americans of haplogroup Q.
- Author
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Köksal, Zehra, Burgos, Gérman, Carvalho, Elizeu F, Loiola, Silvia, Parolin, Maria Laura, Quiroz, Alfredo, Ribeiro-dos-Santos, Ândrea, Toscanini, Ulises, Vullo, Carlos, Børsting, Claus, Gusmão, Leonor, Pereira, Vania, Köksal, Zehra, Burgos, Gérman, Carvalho, Elizeu F, Loiola, Silvia, Parolin, Maria Laura, Quiroz, Alfredo, Ribeiro-dos-Santos, Ândrea, Toscanini, Ulises, Vullo, Carlos, Børsting, Claus, Gusmão, Leonor, and Pereira, Vania
- Abstract
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy, which is important for population, evolutionary and forensic genetics. In this study, Y-SNPs were typed and haplogroups inferred with the MPS Ion AmpliSeq™ HID Y-SNP Research Panel v1, as a high-throughput approach. Firstly, the performance of the panel was evaluated with different DNA input amounts, reagent volumes and cycle numbers. DNA-inputs from 0.5 to 1 ng generated the most balanced read depth. Combined with full reagent and 19 cycles, this offered the highest number of amplicons with a sequencing read depth of at least 20 reads. Secondly, the sub-haplogroups of 182 admixed South Americans and Greenlanders belonging to haplogroup Q were inferred and tested for potential improvement in resolution. Most samples were assigned to lineage Q-M3 with some samples assigned to lineages upstream (Q-M346, L56, L57; Q-L331, L53; Q-L54; Q-CTS11969, CTS11970) or parallel (Q-L330, L334; Q-Z780/M971) to Q-M3. Only one sample was assigned to a downstream lineage (Q-Z35615, Z35616). Most individuals of haplogroup Q with NAM ancestry could neither be distinguished from each other, nor from half of the Greenlandic samples. Typing additional, known SNPs within lineage Q-M3, Z19483 and SA05, increased the resolution of predicted haplogroups. The search for novel variants in the sequenced regions allowed the detection of 42 variants and the subdivision of lineage Q-M3 into new subclades. The variants found in six of these subclades were exclusive to certain South American countries. In light of the limited differentiation of haplogroup Q samples, the additional information on known or novel SNPs disclosed in this study when using MPS Ion AmpliSeq™ HID Y-SNP Research Panel v1 should be included in the Yleaf software, to increase the differentiation of lineage Q-M3.
- Published
- 2022
7. The Ancestry of Eastern Paraguay: A Typical South American Profile with a Unique Pattern of Admixture
- Author
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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
- Full Text
- View/download PDF
8. Second GHEP-ISFG exercise for DVI: “DNA-led” victims’ identification in a simulated air crash
- Author
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Vullo, Carlos M., Catelli, Laura, Ibarra Rodríguez, Adriana A., Papaioannou, Aikaterini, Álvarez Merino, Juan Carlos, López-Parra, A. M., 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, Valdivia Olarte, Jane, Ruiz Gómez, Juan E., Acierno, Juan Pablo, López Soto, Manuel, Velázquez Miranda, Manuel, García King, Marco D., Marrucci, Maria Alessandra, Porto, María J., Herrera Piñero, Mariana, Aler, Mercedes, Stephenson Ojea, Mishel M., Cobos Navarrete, Santiago, Toscanini, Ulises, Saragoni, Víctor G., Bozzo, Walter, Posada Posada, Yeny C., Bajunovic, Zlatan, Prieto Solla, Lourdes, Parsons, Thomas, Vullo, Carlos M., Catelli, Laura, Ibarra Rodríguez, Adriana A., Papaioannou, Aikaterini, Álvarez Merino, Juan Carlos, López-Parra, A. M., 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, Valdivia Olarte, Jane, Ruiz Gómez, Juan E., Acierno, Juan Pablo, López Soto, Manuel, Velázquez Miranda, Manuel, García King, Marco D., Marrucci, Maria Alessandra, Porto, María J., Herrera Piñero, Mariana, Aler, Mercedes, Stephenson Ojea, Mishel M., Cobos Navarrete, Santiago, Toscanini, Ulises, Saragoni, Víctor G., Bozzo, Walter, Posada Posada, Yeny C., Bajunovic, Zlatan, Prieto Solla, Lourdes, 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
- Published
- 2021
9. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome
- Author
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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
- Full Text
- View/download PDF
10. Phylogeographic and genome-wide investigations of Vietnam ethnic groups reveal signatures of complex historical demographic movements
- Author
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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
11. The complete mitogenome of a 500-year-old Inca child mummy
- Author
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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
12. The complete mitogenome of a 500-year-old Inca child mummy
- Author
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Gómez-Carballa, Alberto, primary, Catelli, Laura, additional, Pardo-Seco, Jacobo, additional, Martinón-Torres, Federico, additional, Roewer, Lutz, additional, Vullo, Carlos, additional, and Salas, Antonio, additional
- Published
- 2015
- Full Text
- View/download PDF
13. Cuadro 33 : evidencias y encuentros en la búsqueda de compañeros desaparecidos de Mendoza
- Author
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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
14. 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
15. The Genetic Legacy of the Pre-Colonial Period in Contemporary Bolivians
- Author
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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
- Full Text
- View/download PDF
16. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome.
- Author
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Catelli ML, Alvarez-Iglesias V, Gómez-Carballa A, Mosquera-Miguel A, Romanini C, Borosky A, Amigo J, Carracedo A, Vullo C, and Salas A
- Subjects
- Africa South of the Sahara ethnology, Argentina, Black People genetics, Ethnicity genetics, Genetic Heterogeneity, Humans, Indians, North American genetics, Indians, South American genetics, Italy ethnology, Molecular Sequence Data, Phylogeny, Spain ethnology, White People genetics, DNA, Mitochondrial, Emigration and Immigration
- 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
- Full Text
- View/download PDF
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