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  1. AU="Aquilano, Eliana"
  2. AU=Renz Alina

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  1. Article ; Online: Sequencing errors in Native American mitogenomes: Impact on clade definitions, haplogroup assignation, and beyond.

    Aquilano, Eliana / de la Fuente, Constanza / Rodríguez Golpe, Daniela / Motti, Josefina M B / Bravi, Claudio M

    Mitochondrion

    2023  Volume 70, Page(s) 54–58

    Abstract: Available evidence allows the interpretation that some cases of absence of otherwise expected variation, based on phylogenetic expectations in mitogenomes of Native American origin, are due to artificial recombination rather than to homoplasy, while ... ...

    Abstract Available evidence allows the interpretation that some cases of absence of otherwise expected variation, based on phylogenetic expectations in mitogenomes of Native American origin, are due to artificial recombination rather than to homoplasy, while other more complex scenarios involving combination of original Cambridge Reference Sequence mistakes plus incomplete or incorrect scoring of variation are also showed. Several instances of mismatched control and coding regions as well as partially duplicated HV2 are observed in Peruvians, while intra-haplogroup chimaeras of different D1 subhaplogroups are referred to in Mexican Native Americans. A revised definition for haplogroup B2h is proposed, and preventive quality control measures are suggested.
    MeSH term(s) Humans ; American Indian or Alaska Native ; Phylogeny ; Genome, Mitochondrial ; Haplotypes ; DNA, Mitochondrial
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2023-03-31
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2056923-3
    ISSN 1872-8278 ; 1567-7249
    ISSN (online) 1872-8278
    ISSN 1567-7249
    DOI 10.1016/j.mito.2023.03.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. 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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  3. 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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