Demographic History of Indigenous Populations in Mexico Explored Through Whole Mitogenome Analysis

Mitochondrial DNA plays a key role in understanding the demographic history of human populations. Particularly in the Americas, nine widespread Native American specific mitochondrial lineages have been identified. Here we performed the whole mitogenome sequencing of 572 Indigenous individuals from 60 populations spanning the Mexican territory. To minimize the effects of European and African admixture, we focused on individuals with at least 90% Native American ancestry, estimated by ADMIXTURE. We identified all the five major Native American haplogroups clades, with A2 being the most prevalent (53.9%), followed by B2 (24.0%), C1 (17.6%), D1 (4.3%), and D4h3a (0.2%). We also identified 82 different subhaplogroup widespread across the country, revealing shared mtDNA haplogroups in populations from distant regions. Moreover, mitochondrial DNA variation in the Mexican Native populations is not structured by geography or linguistic affiliation, suggesting complex gene flow across regions. Demographic reconstructions based on whole mitogenomes showed an exponential increase the maternal Ne around 10 kya in all tested regions. All these findings suggest a mitochondrial genetic persistence through Mexico and possibly the Americas.

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Publication Details

Journal
Genome Biology and Evolution
Published
2026-04-22
DOI
https://doi.org/10.1093/gbe/evag102
Primary Topic
Forensic and Genetic Research
Type
article
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article

Demographic History of Indigenous Populations in Mexico Explored Through Whole Mitogenome Analysis

Emilio J. Córdova, Blanca Patricia Lazalde-Ramos, Federico Centeno-Cruz, Austin W. Reynolds et al.
Genome Biology and Evolution
Forensic and Genetic Research
article

Demographic History of Indigenous Populations in Mexico Explored Through Whole Mitogenome Analysis

Emilio J. Córdova, Blanca Patricia Lazalde-Ramos, Federico Centeno-Cruz, Austin W. Reynolds, Jazmín Ramos‐Madrigal, Augusto Rojas-Martı́nez, Alessandra Carnevale, Carlos Galaviz‐Hernández, José Rafael Villafán-Bernal, Alejandra Guadalupe Garcı́a-Zapién, Isabel Cicerón-Arellano, Aleksandar D. Kostic, Francisco Martin Barajas-Olmos, Paulina Baca, Lorena Orozco, Francisco Loeza-Becerra, Meradeth Snow, Marlen Flores-Huacuja, Cecilia Contreras-Cubas, Martha Sosa‐Macías, Silvia Esperanza Flores‐Martínez, Haydee Miranda-Ortíz, Rocio Ortiz-Lopez, Angélica Martínez-Hernández, Humberto García-Ortiz, Héctor Rangel-Villalobos, Elvia Mendoza-Caamal, Angélica González-Oliver
article en

Abstract

Mitochondrial DNA plays a key role in understanding the demographic history of human populations. Particularly in the Americas, nine widespread Native American specific mitochondrial lineages have been identified. Here we performed the whole mitogenome sequencing of 572 Indigenous individuals from 60 populations spanning the Mexican territory. To minimize the effects of European and African admixture, we focused on individuals with at least 90% Native American ancestry, estimated by ADMIXTURE. We identified all the five major Native American haplogroups clades, with A2 being the most prevalent (53.9%), followed by B2 (24.0%), C1 (17.6%), D1 (4.3%), and D4h3a (0.2%). We also identified 82 different subhaplogroup widespread across the country, revealing shared mtDNA haplogroups in populations from distant regions. Moreover, mitochondrial DNA variation in the Mexican Native populations is not structured by geography or linguistic affiliation, suggesting complex gene flow across regions. Demographic reconstructions based on whole mitogenomes showed an exponential increase the maternal Ne around 10 kya in all tested regions. All these findings suggest a mitochondrial genetic persistence through Mexico and possibly the Americas.

Genome Biology and Evolution
University of North Texas (US), University of Copenhagen (DK), Joslin Diabetes Center (US), Mexican Social Security Institute (MX), University of North Texas Health Science Center (US), Universidad Autónoma de Nuevo León (MX), Universidad Michoacana de San Nicolás de Hidalgo (MX), Universidad de Guadalajara (MX), Durango Institute of Technology (MX), National Institute of Genomic Medicine (MX), Universidad Autónoma de Zacatecas "Francisco García Salinas" (MX), Instituto Politécnico Nacional (MX), University of Montana (US), Universidad Nacional Autónoma de México (MX), Tecnológico de Monterrey (MX)
Openalex Percentile: Top 9%
Forensic and Genetic Research
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