Genetic history of the Indigenous peoples of the Americas

[5] They also received geneflow from Ancient North Eurasians, a distinct Paleolithic Siberian population with deep affinities to both "European hunter-gatherers" (e.g. Kostenki-14) and "Basal East Asians" (e.g. Tianyuan man).

[13] The microsatellite diversity and distributions of the Y lineage specific to South America indicates that certain Indigenous American populations have been isolated since the initial peopling of the region.

[14] The Na-Dene, Inuit and Native Alaskan populations exhibit Haplogroup Q-M242; however, they are distinct from other Indigenous Americans with various mtDNA and atDNA mutations.

[25] The overall pattern suggests that the Americas were colonized by a small number of individuals (effective size of about 70), which grew by many orders of magnitude over 800 – 1000 years.

The genetic evidence suggests that all Indigenous Americans ultimately descended from a founding population that diverged from East Asians and subsequently admixed with Ancient North Eurasians.

[42] A review article published in the Nature journal in 2021, which summarized the results of previous genomic studies, similarly concluded that all Indigenous Americans descended from the movement of people from Northeast Asia into the Americas.

The study also dismissed the existence, inferred from craniometric data, of a hypothetical distinct non-Indigenous American population (suggested to have been related to Indigenous Australians and Papuans), sometimes called "Paleoamerican".

[44][45] Genetic studies also determined Amerindian-like geneflow from the Americas back into Siberia, contributing some ancestry to local Siberian populations.

[49] The micro-satellite diversity and distribution of a Y lineage specific to South America suggest that certain Indigenous American populations became isolated after the initial colonization of their regions.

[59] Starting the Paleo-Indigenous American period, a migration to the Americas across the Bering Strait (Beringia) by a small population carrying the Q-M242 mutation occurred.

[68][69][70] R1b1a1a2 (M269) is found predominantly in North American groups like the Ojibwe (50-79%), Seminole (50%), Sioux (50%), Cherokee (47%), Dogrib (40%) and Tohono O'odham (Papago) (38%).

[73] Some researchers feel that this may indicate that the Na-Dene migration occurred from the Russian Far East after the initial Paleo-Indigenous American colonization, but prior to modern Inuit, Inupiat and Yupik expansions.

[75][76] Listed here are notable Indigenous peoples of the Americas by human Y-chromosome DNA haplogroups based on relevant studies.

[80][82] A 2023 DNA study found that "[i]n addition to previously described ancestral sources in Siberia, Australo-Melanesia, and Southeast Asia, ... northern coastal China also contributed to the gene pool of Native Americans" as well as that of Japanese people.

It also indicates that the distribution of mtDNA haplogroups and the levels of sequence divergence among linguistically similar groups were the result of multiple preceding migrations from Bering Straits populations.

[90] The predominant theory for sub-haplogroup X2a's appearance in North America is migration along with A, B, C, and D mtDNA groups, from a source in the Altai Mountains of central Asia.

[91][92][93][94] Haplotype X6 was present in the Tarahumara 1.8% (1/53) and Huichol 20% (3/15)[95] Sequencing of the mitochondrial genome from Paleo-Eskimo remains (3,500 years old) are distinct from modern Indigenous Americans, falling within sub-haplogroup D2a1, a group observed among today's Aleutian Islanders, the Aleut and Siberian Yupik populations.

[51][97] These final Pre-Columbian migrants introduced haplogroups A2a and A2b to the existing Paleo-Eskimo populations of Canada and Greenland, culminating in the modern Inuit.

All of the ancient mitochondrial lineages detected in this study were absent from modern data sets, suggesting a high extinction rate.

[100] Recent archaeological findings in Alaska have shed light on the existence of a previously unknown Indigenous American population that has been academically named "Ancient Beringians".

[101] Although it is popularly agreed among archeologists that early settlers had crossed into Alaska from Russia through the Bering Strait land bridge, the issue of whether or not there was one founding group or several waves of migration is a controversial and prevalent debate among academics in the field today.

[102] This breakthrough is said to be the first direct genomic evidence that there was potentially only one wave of migration in the Americas that occurred, with genetic branching and division transpiring after the fact.

[114] The European conquest of South and Central America, beginning in the late 15th century, was initially executed by male soldiers and sailors from the Iberian Peninsula (Spain and Portugal).

[118] In the areas where these peoples formed communities, and developed a unique, syncretic culture, their children became known as "Métis" or "Bois-Brûlés" by the French colonists.

[125][126] This cultivation of an opportunistic ethnic identity is related to the "prestige" non-Natives may associate with Indigenous American ancestry, having never experienced any of the attendant hardships or oppression.

[129] A team led by Ripan Malhi, an anthropologist at the University of Illinois in Urbana, conducted a study where they used a scientific technique known as whole exome sequencing to test immune-related gene variants within Indigenous Americans.

[130] These finding suggest that European-borne epidemics such as smallpox altered the disease landscape of the Americas, leaving survivors of these outbreaks less likely to carry variants like HLA-DQA1.

The change in genetic makeup is measured by scientists to have occurred around 175 years ago, during a time when the smallpox epidemic was raging through the Americas[citation needed].

Prior to the 1952 confirmation of DNA as the hereditary material by Alfred Hershey and Martha Chase, scientists used blood proteins to study human genetic variation.

[140] Differences in the frequency of the antigen in populations of Indigenous people in the Americas correlate with major language families, modified by environmental conditions.

Schematic illustration of maternal geneflow in and out of Beringia.Colours of the arrows correspond to approximate timing of the events and are decoded in the coloured time-bar. The initial peopling of Berinigia (depicted in light yellow) was followed by a standstill after which the ancestors of indigenous Americans spread swiftly all over the New World while some of the Beringian maternal lineages–C1a-spread westwards. More recent (shown in green) genetic exchange is manifested by back-migration of A2a into Siberia and the spread of D2a into north-eastern America that post-dated the initial peopling of the New World.
Schematic illustration of maternal (mtDNA) gene-flow in and out of Beringia , from 25,000 years ago to present
Principal component analysis showing the Native American cluster in other Eurasian populations. [ 24 ]
Position of Native Americans on a Principal component analysis of global human population clusters from the 1000 Genomes project.
A qpGraph on the formation of Ancient Paleo-Siberians and Native American populations. [ 43 ]
Map of Y-Chromosome Haplogroups - Dominant haplogroups in pre-colonial populations with proposed migration routes.
Frequency distribution of haplogroup Q-M242. [ 54 ]
Distribution of haplogroup C2=C-M217 (YDNA), formerly C3. [ 72 ]
Distribution of haplogroup X
Codes for populations are as follow: North America: 1 = Chukchy, 2 = Eskimos; 3 = Inuit (collected from the HvrBase database; 4 = Aleuts; 5 = Athapaskan; 6 = Haida; 7 = Apache, 8 = Bella Coola; 9 = Navajo; 10 = Sioux, 11 = Chippewa, 12 = Nuu-Chah-Nult; 13 = Cheyenne; 14 = Muskogean populations; 15 = Cheyenne-Arapaho; 16 = Yakima; 17 = Stillwell Cherokee; Meso-America: 18 = Pima; 19 = Mexico; 20 = Quiche; 21 = Cuba; 22 = El Salvador; 23 = Huetar; 24 = Emberá; 25 = Kuna; 26 = Ngöbé; 27 = Wounan; South America: 28 = Guahibo; 29 = Yanomamo from Venezuela; 30 = Gaviao; 31 = Yanomamo from Venezuela and Brazil; 32 = Colombia; 33 = Ecuador (general population), 34 = Cayapa; 35 = Xavante; 36 = North Brazil; 37 = Brazil; 38 = Curiau; 39 = Zoró; 40 = Ignaciano, 41 = Yuracare; 42 = Ayoreo; 43 = Araucarians; 44 = Pehuenche, 45 = Mapuche from Chile; 46 = Coyas; 47 = Tacuarembó; 48 = Uruguay; 49 = Mapuches from Argentina; 50 = Yaghan
Frequency distribution of the main mtDNA American haplogroups in Indigenous American populations.
Schematic illustration of maternal gene flow in and out of Beringia.Colours of the arrows correspond to approximate timing of the events and are decoded in the coloured time-bar. The initial peopling of Berinigia (depicted in light yellow) was followed by a standstill after which the ancestors of Indigenous Americans spread swiftly all over the New World, while some of the Beringian maternal lineages–C1a-spread westwards. More recent (shown in green) genetic exchange is manifested by back-migration of A2a into Siberia and the spread of D2a into north-eastern America that post-dated the initial peopling of the New World.
Figure 2. Schematic illustration of maternal (mtDNA) gene-flow in and out of Beringia (long chronology, single source model).
The current distribution of Indigenous peoples (based on self-identification, not genetic data).
Frequency of O group in Indigenous populations. Note the predominance of this group in Indigenous Americans.