Uniparental genetic markers in Native Americans: A summary of all available data from ancient and contemporary populations

Abstract

Objectives The aim of this study was to create a comprehensive summary of available mtDNA and Y‐chromosome data for Native Americans from North, Central, and South America, including both modern and ancient DNA. To illustrate the usefulness of this dataset we present a broad picture of the genetic variation for both markers across the Americas. Methods We searched PubMed, ResearchGate, Google Scholar for studies about mtDNA or Y‐chromosome variation in Native American populations, including geographic, linguistic, ecological (ecoregion), archeological and chronological information. We used AMOVA to estimate the genetic structure associated with language and ecoregion grouping and Mantel tests to evaluate the correlation between genetic and geographic distances. Results Genetic data were obtained from 321 primary sources, including 22,569 individuals from 298 contemporary populations, and 3628 individuals from 202 archeological populations. MtDNA lineages of probable non‐Amerindian origin were rare, in contrast with Y‐chromosome lineages. Mantel tests showed a statistically significant correlation for the whole continent considering mtDNA but not the Y‐chromosome. Genetic structure between groups was always stronger for mtDNA than for the Y‐chromosome. Conclusions This study summarizes decades of research conducted in Native American populations for both mtDNA and the Y‐chromosome. Continental or sub‐continental patterns of variation reveal that most of the genetic variation occurs within populations rather than among linguistic or ecoregional groups, and that isolation by distance is barely detectable in most population sets. The genetic structure among groups was always larger for mtDNA than for the Y‐chromosome, suggesting between‐sex differences in gene flow.

Weaving Mitochondrial DNA and Y-Chromosome Variation in the Panamanian Genetic Canvas

“…An additional proof of this complex scenario is the different patterns detected in the Indigenous groups currently living in Panama: Indigenous mtDNA lineages reach 100% in all Indigenous groups, while the Y-chromosome haplogroups range from 25% in the Bribri to 100% in the Naso. Similar patterns, with a modest impact of allochthonous lineages on the maternal line (<5%) and paternal lineages from external sources present in varying proportions, have been detected in Indigenous groups currently living both to the north (Costa Rica, Nicaragua, and Mexico) [21,63,65] and to the south (Colombia) [26] of Panama, as well as in other regions [67]. Within the Isthmus, we pointed out a differential post-contact impact of allochthonous Y-chromosome lineages on the Indigenous genomic pool of the western Panamanian groups that were the most homogeneous in pre-Hispanic times [36].…”

A genomic perspective on South American human history

“…As proposed by the Beringian standstill hypothesis, the ANA would have entered a period of relative isolation from other groups before or during their first dispersal to the American continent ( Tamm et al, 2007 ; Kitchen et al, 2008 ; Mulligan et al, 2008 ). This hypothesis is mainly supported by exclusive patrilineal and matrilineal lineages (i.e., NRY and mtDNA haplotypes) in the Americas ( Fagundes et al, 2018 ; Bergström et al, 2020 ; Bisso-Machado and Fagundes, 2021 ). This period of isolation would have lasted between 4,6K ( Pinotti et al, 2019 ) and 15K years ( Graf and Buvit, 2017 ), and likely took place in Beringia ( Figure 1 ).…”

“…Continental-scale genetic studies of American indigenous populations have not found any significant relationship between genetic and cultural diversity (Hunley et al, 2007;Roewer et al, 2013;Bisso-Machado and Fagundes, 2021), although a large sample of South American indigenous groups showed at least partial correlation between autosomal genetic variation and ethnolinguistic diversity (Castro e Silva et al, 2022). Furthermore, it is also possible to find unambiguous examples where culture has had a considerable impact on genetic patterns, particularly in more local contexts, such as the Xávante of Brazil's central plateau, who were impacted by fission-fusion population dynamics in which populations split and migrate in a non-random manner motivated by cultural factors, later evolving independently or merging back together, or even merging with other groups from the same ethnicity (Neel and Salzano, 1967).…”

Perspectiva genômica sobre a origem, história e diversidade dos povos indígenas da América do Sul: do povoamento inicial à colonização europeia

“…Ao mesmo tempo é possível concluir que estas linhagens se originaram no leste asiático, por integrarem um ramo irmão às linhagens asiáticas, e ainda pode-se inferir que passaram por um período de redução populacional prévia ou concomitante ao povoamento inicial, visto que algumas destas linhagens são completamente exclusivas às Américas, motivando a hipótese de que os primeiros humanos a migrarem para o continente teriam permanecido na região da Beríngia, ao menos parcialmente isolados de outras populações asiáticas durante um período do UMG, o que ficou conhecido como hipótese da permanência na Beríngia 17 (SZATHMARY, 1993;SALZANO, 1997;TAMM et al, 2007;WANG et al, 2007;BISSO-MACHADO et al, 2011;WATERS, 2019;BISSO-MACHADO;FAGUNDES, 2021). Estima-se que este período de isolamento tenha durado entre 4.600 (PINOTTI et al, 2019) e 15.000 AP (GRAF; BUVIT, 2017), porém o local onde eles permaneceram na Beríngia, ou mesmo fora dela, ainda não é um consenso pelo indivíduo de Mal'ta (RAGHAVAN et al, 2014), posteriormente se demonstrou que essa linhagem pode ser modelada como descendente dos ANS (SIKORA et al, 2019).…”

“…Apesar de estudos genéticos em escala continental das populações indígenas da América do Sul não terem encontrado uma relação clara entre a distribuição da variabilidade genética e cultural (HUNLEY et al, 2007;ROEWER et al, 2013;BISSO-MACHADO;FAGUNDES, 2021), é possível identificar alguns casos onde a cultura influenciou os padrões genéticos de forma significativa, especialmente em contextos regionais. Um bom exemplo dessa relação entre cultura e genética pode ser observada nos grupos das terras baixas, sobretudo nos Xávante do platô central brasileiro, que apresentam uma dinâmica populacional de eventos de fissão-fusão motivados por fatores culturais, que consiste na divisão e migração não-aleatória de grupos, os quais podem evoluir isoladamente ou se fundir novamente ao grupo original, ou ainda a outros grupos da mesma etnia (NEEL; SALZANO, 1967).…”