The maternal inheritance of Alto Paraná revealed by full mitogenome sequences

Simão, Filipa; Strobl, Christina; Vullo, Carlos; Catelli, Laura; Machado, Patrícia; Huber, Nicole; Schnaller, Lisa; Huber, Gabriela; Xavier, Catarina; Carvalho, E.F.; Gusmão, Leonor; Parson, Walther

doi:10.1016/j.fsigen.2018.12.007

Cited by 17 publications

(16 citation statements)

References 17 publications

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“…Recently published work on the Alto Paraná region of Paraguay 22 reported some of the abovementioned hgs (B2b3a, 2%; B2o, 1%; B2h, 4%; D1e 4% and D1f, 1%), although the D-loop haplotype sequences were different from those of Mataco-Guaycurú reported in this study.…”

Section: Discussioncontrasting

confidence: 74%

Genetic structure of Mataco-Guaycurú speakers from Argentina and the extent of their genetic admixture with neighbouring urban populations

Sala

Caputo

Corach

2019

Sci Rep

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Argentina hosts more than 30 Native American groups, who are widely distributed throughout the country. Mataco-Guaycurú speakers settled in the ecoregion of Gran Chaco and represent 26.7% of the extant aboriginal population of the country. To further investigate the genetic attributes of these speakers, we focused our attention on four aboriginal groups, namely, Wichí, Toba, Pilagá and Mocoví, belonging to the Mataco-Guaycurú linguistic group. Our main goal was to evaluate the interrelationships among the groups and the relationships of these groups with admixed urban populations and to assess correspondences between molecular analysis and historical information. A total of 890 samples (282 Native Americans and 608 inhabitants of admixed urban areas) were analysed. Genetic information was gathered from 15 autosomal STRs, 17 Y-STRs, entire mtDNA control region sequences, 24 AIM-SNPs and 46 AIM-DIPs. Native American signatures were detected in 97.9% of mtDNA lineages, 89.1% of Y-haplotypes and 90.3% to 96.9% of autosomal markers. Wichí exhibited the genetic composition with the largest Native American contribution among the groups and a weak signal of gene flow. This work provides extended genetic information of potential interest in the fields of molecular anthropology and forensic genetics.

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Section: Discussioncontrasting

confidence: 74%

Genetic structure of Mataco-Guaycurú speakers from Argentina and the extent of their genetic admixture with neighbouring urban populations

Sala

Caputo

Corach

2019

Sci Rep

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“…The effect of pathogenic variant filtering on haplotype frequency estimations was evaluated using forensic-quality mitogenome datasets ( Table S2 ). The datasets are described in [ 1 , 2 , 3 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ] with the exception of two datasets that were recently submitted to and quality-controlled by EMPOP but are not published yet [ 25 ]. The datasets included 2488 haplotypes representing four global populations (West Eurasian n = 623, African n = 613, East Asian n = 630, and Hispanic/Native American n = 622).…”

Section: Methodsmentioning

confidence: 99%

Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Marshall

Sturk-Andreaggi

Ring³

et al. 2020

Genes

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Given the enhanced discriminatory power of the mitochondrial DNA (mtDNA) genome (mitogenome) over the commonly sequenced control region (CR) portion, the scientific merit of mitogenome sequencing is generally accepted. However, many laboratories remain beholden to CR sequencing due to privacy policies and legal requirements restricting the use of disease information or coding region (codR) information. In this report, we present an approach to obviate the reporting of sensitive codR data in forensic haplotypes. We consulted the MitoMap database to identify 92 mtDNA codR variants with confirmed pathogenicity. We determined the frequencies of these pathogenic variants in literature-quality and forensic-quality databases to be very low, at 1.2% and 0.36%, respectively. The observed effect of pathogenic variant filtering on random match statistics in 2488 forensic-quality mitogenome haplotypes from four populations was nil. We propose that pathogenic variant filtering should be incorporated into variant calling algorithms for mitogenome haplotype reporting to maximize the discriminatory power of the locus while minimizing the reveal of sensitive genetic information.

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“…F ST genetic distances between the Andean sample and published data from admixed populations from Colombia [8], Peru [8], Argentina [9], Paraguay [10], Chile [11] and Brazil [5] were calculated. No significant differences were observed between our sample and the Colombian population deposited on the 1000 Genomes Project.…”

Section: Resultsmentioning

confidence: 99%

Maternal genetic characterization of a Colombian Andean population

Castillo

Deccache

Carvalho

et al. 2019

Forensic Science International: Genetics Supplement Series

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The development of frequency databases that accurately represent the different populations are of great importance in forensic genetic. This is especially true for South American populations, due to a high genetic diversity and population substructure inside many countries. Concerning Colombian populations, a clear picture of the mtDNA haplotype diversity and its stratification is still lacking. Aiming to fill this gap, samples from individuals living in the Andean region were selected for this study and sequenced for the complete mtDNA control region. Diversity indexes and population comparisons among South American populations were performed. The results showed a high proportion of Native American haplogroups and significant differences among populations from different countries.

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The maternal inheritance of Alto Paraná revealed by full mitogenome sequences

Cited by 17 publications

References 17 publications

Genetic structure of Mataco-Guaycurú speakers from Argentina and the extent of their genetic admixture with neighbouring urban populations

Genetic structure of Mataco-Guaycurú speakers from Argentina and the extent of their genetic admixture with neighbouring urban populations

Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Maternal genetic characterization of a Colombian Andean population

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