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  1. Article ; Online: Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas.

    Paz Sepúlveda, Paula B / Mayordomo, Andrea Constanza / Sala, Camila / Sosa, Ezequiel Jorge / Zaiat, Jonathan Javier / Cuello, Mariela / Schwab, Marisol / Rodríguez Golpe, Daniela / Aquilano, Eliana / Santos, María Rita / Dipierri, José Edgardo / Alfaro Gómez, Emma L / Bravi, Claudio M / Muzzio, Marina / Bailliet, Graciela

    PloS one

    2022  Volume 17, Issue 8, Page(s) e0271971

    Abstract: The settlement of the Americas has been the focus of incessant debate for more than 100 years, and open questions regarding the timing and spatial patterns of colonization still remain today. Phylogenetic studies with complete human Y chromosome ... ...

    Abstract The settlement of the Americas has been the focus of incessant debate for more than 100 years, and open questions regarding the timing and spatial patterns of colonization still remain today. Phylogenetic studies with complete human Y chromosome sequences are used as a highly informative tool to investigate the history of human populations in a given time frame. To study the phylogenetic relationships of Native American lineages and infer the settlement history of the Americas, we analyzed Y chromosome Q Haplogroup, which is a Pan-American haplogroup and represents practically all Native American lineages in Mesoamerica and South America. We built a phylogenetic tree for Q Haplogroup based on 102 whole Y chromosome sequences, of which 13 new Argentine sequences were provided by our group. Moreover, 1,072 new single nucleotide polymorphisms (SNPs) that contribute to its resolution and diversity were identified. Q-M848 is known to be the most frequent autochthonous sub-haplogroup of the Americas. The present is the first genomic study of Q Haplogroup in which current knowledge on Q-M848 sub-lineages is contrasted with the historical, archaeological and linguistic data available. The divergence times, spatial structure and the SNPs found here as novel for Q-Z780, a less frequent sub-haplogroup autochthonous of the Americas, provide genetic support for a South American settlement before 18,000 years ago. We analyzed how environmental events that occurred during the Younger Dryas period may have affected Native American lineages, and found that this event may have caused a substantial loss of lineages. This could explain the current low frequency of Q-Z780 (also perhaps of Q-F4674, a third possible sub-haplogroup autochthonous of the Americas). These environmental events could have acted as a driving force for expansion and diversification of the Q-M848 sub-lineages, which show a spatial structure that developed during the Younger Dryas period.
    MeSH term(s) Chromosomes, Human, Y/genetics ; Genetics, Population ; Genomics ; Haplotypes ; Humans ; Phylogeny
    Language English
    Publishing date 2022-08-17
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0271971
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay.

    Jurado Medina, Laura S / Paz Sepúlveda, Paula B / Ramallo, Virginia / Sala, Camila / Beltramo, Julieta / Schwab, Marisol / Motti, Josefina M B / Santos, María Rita / Cuello, Mariela V / Salceda, Susana / Dipierri, José E / Alfaro Gómez, Emma L / Muzzio, Marina / Bravi, Claudio M / Bailliet, Graciela

    Human biology

    2021  Volume 92, Issue 2, Page(s) 63–80

    Abstract: Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined ...

    Abstract Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.
    MeSH term(s) Americas ; Argentina ; Asia ; Chromosomes, Human, Y/genetics ; Europe ; Genetics, Population ; Haplotypes/genetics ; Humans ; Male ; Microsatellite Repeats ; Middle East ; Paraguay ; Phylogeny ; Polymorphism, Single Nucleotide/genetics
    Language English
    Publishing date 2021-02-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1116-2
    ISSN 1534-6617 ; 0018-7143
    ISSN (online) 1534-6617
    ISSN 0018-7143
    DOI 10.13110/humanbiology.92.2.01
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Population structure in Argentina.

    Muzzio, Marina / Motti, Josefina M B / Paz Sepulveda, Paula B / Yee, Muh-Ching / Cooke, Thomas / Santos, María R / Ramallo, Virginia / Alfaro, Emma L / Dipierri, Jose E / Bailliet, Graciela / Bravi, Claudio M / Bustamante, Carlos D / Kenny, Eimear E

    PloS one

    2018  Volume 13, Issue 5, Page(s) e0196325

    Abstract: We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence ... ...

    Abstract We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola.
    MeSH term(s) Argentina ; Exome/genetics ; Genotype ; Geography ; Humans ; Population Dynamics
    Language English
    Publishing date 2018-05-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0196325
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina.

    Luisi, Pierre / García, Angelina / Berros, Juan Manuel / Motti, Josefina M B / Demarchi, Darío A / Alfaro, Emma / Aquilano, Eliana / Argüelles, Carina / Avena, Sergio / Bailliet, Graciela / Beltramo, Julieta / Bravi, Claudio M / Cuello, Mariela / Dejean, Cristina / Dipierri, José Edgardo / Jurado Medina, Laura S / Lanata, José Luis / Muzzio, Marina / Parolin, María Laura /
    Pauro, Maia / Paz Sepúlveda, Paula B / Rodríguez Golpe, Daniela / Santos, María Rita / Schwab, Marisol / Silvero, Natalia / Zubrzycki, Jeremias / Ramallo, Virginia / Dopazo, Hernán

    PloS one

    2020  Volume 15, Issue 7, Page(s) e0233808

    Abstract: Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in ... ...

    Abstract Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry 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 perform population structure analyses at a sub-continental level. Concerning the Native American ancestry, 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 Andes, Central Chile/Patagonia, and Subtropical and Tropical Forests geographic areas. The fourth component might be specific to the Central Western region of Argentina, and it is not well represented in any genomic data from the literature. As for the European and African ancestries, we confirmed previous results about origins from Southern Europe, Western and Central Western Africa, and we provide evidences for the presence of Northern European and Eastern African ancestries.
    MeSH term(s) African Continental Ancestry Group/ethnology ; African Continental Ancestry Group/genetics ; Argentina ; Colonialism ; DNA/genetics ; Enslavement ; European Continental Ancestry Group/ethnology ; European Continental Ancestry Group/genetics ; Genetic Markers ; Genetic Variation ; Genetics, Population ; Genome, Human ; Genotype ; Human Migration ; Humans ; Indians, South American/ethnology ; Indians, South American/genetics ; Marriage ; Models, Genetic ; Pedigree
    Chemical Substances Genetic Markers ; DNA (9007-49-2)
    Language English
    Publishing date 2020-07-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0233808
    Database MEDical Literature Analysis and Retrieval System OnLINE

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