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The genetic history of the Indigenous peoples of the Americas is divided into two distinct periods: the initial peopling of the Americas from about 20,000 to 14,000 years ago (20–14 kya), and European contact, after about 500 years ago. The first period of the genetic history of Indigenous Americans is the determinant factor for the number of genetic lineages,
zygosity Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mos ...
mutations, and founding
haplotype A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material (DNA) which is inherited from two parents. Normally these organisms have their DNA orga ...
s present in today's Indigenous American populations. Indigenous American populations descend from and share ancestry with an
Ancient East Asian This article summarizes the genetic makeup and population history of East Asian peoples and their connection to genetically related populations such as Southeast Asians and North Asians, as well as Oceanians, and partly, Central Asians, South Asi ...
lineage which diverged from other East Asian peoples prior to the
Last Glacial Maximum The Last Glacial Maximum (LGM), also referred to as the Last Glacial Coldest Period, was the most recent time during the Last Glacial Period where ice sheets were at their greatest extent between 26,000 and 20,000 years ago. Ice sheets covered m ...
(26–18 kya). They also received geneflow from
Ancient North Eurasian In archaeogenetics, the term Ancient North Eurasian (ANE) refers to an ancestral component that represents the lineage of the people of the Mal'ta–Buret' culture () and populations closely related to them, such as the Upper Paleolithic individ ...
s, 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 Tianyuan man ( zh, t=田園洞人, s=田园洞人, p=Tiányuándòng Rén) are the remains of one of the earliest modern humans to inhabit East Asia. In 2007, researchers found 34 bone fragments belonging to a single individual at the Tianyuan ...
). They later dispersed throughout the Americas after about 16,000 years ago (exceptions being the
Na-Dene Na-Dene ( ; also Nadene, Na-Dené, Athabaskan–Eyak–Tlingit, Tlina–Dene) is a family of Native American languages that includes at least the Athabaskan languages, Eyak, and Tlingit languages. Haida was formerly included but is now general ...
and
Eskimo–Aleut The Eskaleut ( ), Eskimo–Aleut or Inuit–Yupik–Unangan languages are a language family native to the northern portions of the North American continent, and a small part of northeastern Asia. Languages in the family are indigenous to parts of ...
speaking groups, which are derived partially from Siberian populations which entered the Americas at a later time). Analyses of genetics among Indigenous American and Siberian populations have been used to argue for early isolation of founding populations on
Beringia Beringia is defined today as the land and maritime area bounded on the west by the Lena River in Russia; on the east by the Mackenzie River in Canada; on the north by 70th parallel north, 72° north latitude in the Chukchi Sea; and on the south ...
and for later, more rapid migration from Siberia through Beringia into the
New World The term "New World" is used to describe the majority of lands of Earth's Western Hemisphere, particularly the Americas, and sometimes Oceania."America." ''The Oxford Companion to the English Language'' (). McArthur, Tom, ed., 1992. New York: ...
. The
microsatellite A microsatellite is a tract of repetitive DNA in which certain Sequence motif, DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organ ...
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. The
Na-Dene Na-Dene ( ; also Nadene, Na-Dené, Athabaskan–Eyak–Tlingit, Tlina–Dene) is a family of Native American languages that includes at least the Athabaskan languages, Eyak, and Tlingit languages. Haida was formerly included but is now general ...
,
Inuit Inuit (singular: Inuk) are a group of culturally and historically similar Indigenous peoples traditionally inhabiting the Arctic and Subarctic regions of North America and Russia, including Greenland, Labrador, Quebec, Nunavut, the Northwe ...
and
Native Alaskan Native may refer to: People * '' Jus sanguinis'', nationality by blood * '' Jus soli'', nationality by location of birth * Indigenous peoples, peoples with a set of specific rights based on their historical ties to a particular territory ** Nat ...
populations exhibit
Haplogroup Q-M242 Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has two primary subclades: Q1/Q-L472 (also known as Q-MEH2) and Q2/Q-L275). These include numerous subclades that have been sampled and identified in males among modern populations. ...
; however, they are distinct from other Indigenous Americans with various
mtDNA Mitochondrial DNA (mtDNA and mDNA) is the DNA located in the mitochondria organelles in a eukaryotic cell that converts chemical energy from food into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the DNA contained in ...
and
atDNA An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes i ...
mutations. This suggests that the peoples who first settled in the northern extremes of North America and Greenland derived from later migrant populations than those who penetrated farther south in the Americas. Linguists and biologists have reached a similar conclusion based on analysis of Indigenous American language groups and
ABO blood group system The ABO blood group system is used to denote the presence of one, both, or neither of the A and B antigens on erythrocytes (red blood cells). For human blood transfusions, it is the most important of the 47 different blood type (or group) c ...
distributions.


Autosomal DNA

Genetic diversity and population structure in the American landmass is also measured using
autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...
(atDNA) micro-satellite markers
genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...
d; sampled from North, Central, and South America and analyzed against similar data available from other Indigenous populations worldwide. The Indigenous American populations show a lesser
genetic diversity Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species. It ranges widely, from the number of species to differences within species, and can be correlated to the span of survival for a species. It is d ...
than populations from other continental regions, while their overall strongest affinity for other populations is observed for
Paleosiberian peoples In archaeogenetics, the term Ancient Paleo-Siberian is the name given to an ancestral component that represents the lineage of the hunter-gatherer people of the 15th-10th millennia before present, in northern and northeastern Siberia. The Ancien ...
. Observed is a decreasing genetic diversity as geographic distance from the Bering Strait occurs, as well as a decreasing genetic similarity to Siberian populations from Alaska (the genetic entry point). Also observed is evidence of a greater level of diversity and lesser level of population structure in western South America compared to eastern South America. There is a relative lack of differentiation between
Mesoamerican Mesoamerica is a historical region and cultural area that begins in the southern part of North America and extends to the Pacific coast of Central America, thus comprising the lands of central and southern Mexico, all of Belize, Guatemala, El S ...
and
Andean The Andes ( ), Andes Mountains or Andean Mountain Range (; ) are the longest continental mountain range in the world, forming a continuous highland along the western edge of South America. The range is long and wide (widest between 18°S ...
populations, a scenario that implies that coastal routes (in this case along the coast of the Pacific Ocean) were easier for migrating peoples (more genetic contributors) to traverse in comparison with inland routes. 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 data also shows that there have been genetic exchanges between Asia, the Arctic, and Greenland since the initial peopling of the Americas. According to an autosomal genetic study from 2012, Indigenous Americans descend from at least three main migrant waves from Northern Asia. Most of it is traced back to a single ancestral population, called 'First Americans'. However, those who speak
Inuit languages The Inuit languages are a closely related group of Indigenous languages of the Americas, indigenous American languages traditionally spoken across the North American Arctic and the adjacent subarctic regions as far south as Labrador. The Inuit ...
from the
Arctic The Arctic (; . ) is the polar regions of Earth, polar region of Earth that surrounds the North Pole, lying within the Arctic Circle. The Arctic region, from the IERS Reference Meridian travelling east, consists of parts of northern Norway ( ...
inherited almost half of their ancestry from a second East Asian migrant wave, and those who speak
Na-Dene Na-Dene ( ; also Nadene, Na-Dené, Athabaskan–Eyak–Tlingit, Tlina–Dene) is a family of Native American languages that includes at least the Athabaskan languages, Eyak, and Tlingit languages. Haida was formerly included but is now general ...
inherited a tenth of their ancestry from a third migrant wave. The initial settling of the Americas was followed by a rapid expansion southwards along the west coast, with little gene flow later, especially in
South America South America is a continent entirely in the Western Hemisphere and mostly in the Southern Hemisphere, with a considerably smaller portion in the Northern Hemisphere. It can also be described as the southern Subregion#Americas, subregion o ...
. One exception to this are the
Chibcha The Muisca (also called the Chibcha) are indigenous peoples in Colombia and were a Pre-Columbian cultures of Colombia, Pre-Columbian culture of the Altiplano Cundiboyacense that formed the Muisca Confederation before the Spanish colonizati ...
speakers of Colombia, whose ancestry comes from both North and South America. In 2014, the autosomal DNA of a 12,500+ year old infant from Montana was sequenced. The DNA was taken from a skeleton referred to as Anzick-1, found in close association with several Clovis artifacts. Comparisons showed strong affinities with DNA from Siberian sites, and virtually ruled out that particular individual had any close affinity with European sources (the "
Solutrean hypothesis The Solutrean hypothesis on the peopling of the Americas is the claim that the earliest human migration to the Americas began from Europe during the Solutrean Period, with Europeans traveling along pack ice in the Atlantic Ocean. This hypothesi ...
"). The DNA also showed strong affinities with all existing Indigenous American populations, which indicated that all of them derive from an ancient population that lived in or near Siberia. Linguistic studies have reinforced genetic studies, with relationships between languages found among those spoken in Siberia and those spoken in the Americas. Two 2015 autosomal DNA genetic studies confirmed the Siberian origins of the Indigenous peoples of the Americas. However, an ancient signal of shared ancestry with Australasians (Indigenous peoples of Australia, Melanesia, and the
Andaman Islands The Andaman Islands () are an archipelago, made up of 200 islands, in the northeastern Indian Ocean about southwest off the coasts of Myanmar's Ayeyarwady Region. Together with the Nicobar Islands to their south, the Andamans serve as a mari ...
) was detected among the Indigenous peoples of the
Amazon region The Amazon basin is the part of South America drained by the Amazon River and its tributaries. The Amazon drainage basin covers an area of about , or about 35.5 percent of the South American continent. It is located in the countries of Bolivi ...
. This signal, also doubt as 'population Y' has been more recently linked to a deep East Asian population, which can be associated with the
Tianyuan man Tianyuan man ( zh, t=田園洞人, s=田园洞人, p=Tiányuándòng Rén) are the remains of one of the earliest modern humans to inhabit East Asia. In 2007, researchers found 34 bone fragments belonging to a single individual at the Tianyuan ...
, and which is ancestral to modern East Asians. The deep Tianyuan and East Asian lineages form a sister branch to Andamanese and Australasian populations, with all of them being branches of
Ancient East Eurasians The term Ancient East Eurasian, alternatively also known as East Eurasian or Eastern Eurasian, is used in population genomics to describe the genetic ancestry and phylogenetic relationship of diverse populations primarily living in the Asia-Pacif ...
. The main migration coming out of Siberia into the Americas would have happened 23,000 years ago. A 2018 study analysed ancient Indigenous samples. The genetic evidence suggests that all Indigenous Americans ultimately descended from a founding population that diverged from
East Asian East Asia is a geocultural region of Asia. It includes China, Japan, Mongolia, North Korea, South Korea, and Taiwan, plus two special administrative regions of China, Hong Kong and Macau. The economies of Economy of China, China, Economy of Ja ...
s and subsequently admixed with
Ancient North Eurasian In archaeogenetics, the term Ancient North Eurasian (ANE) refers to an ancestral component that represents the lineage of the people of the Mal'ta–Buret' culture () and populations closely related to them, such as the Upper Paleolithic individ ...
s. The authors also provided evidence that the basal northern and southern Indigenous American branches, to which all other Indigenous peoples belong, diverged around 16,000 years ago. A study published in the
Nature journal Nature is an inherent character or constitution, particularly of the ecosphere or the universe as a whole. In this general sense nature refers to the laws, elements and phenomena of the physical world, including life. Although humans are part ...
in 2018 concluded that Indigenous Americans descended from a single founding population which initially divided from East Asians about ~36,000 (±1,500) years BP, with gene flow between this divided group of Ancestral Indigenous Americans and Siberians persisting until about ~25,000 (±1,100) years BP, before merging with Ancient North Eurasians and subsequently becoming isolated in the Americas or Beringia at ~22,000 years BP. Northern and Southern American Indigenous sub-populations split from each other at roughly ~17,500 to 14,600 years BP. There is also some evidence for a back-migration from the Americas into Siberia after ~11,500 years BP. A study published in the Cell journal in 2019, analysed 49 ancient Indigenous American samples from all over North and South America, and concluded that all Indigenous American populations descended from a single ancestral source population which divided from Ancient East Asians, and admixed with Ancient North Eurasians (ANE), and gave rise to the "Ancestral Indigenous Americans", which later diverged into the various Indigenous groups. The authors further dismissed previous claims for the possibility of two distinct population groups among the peopling of the Americas. Both Northern and Southern Indigenous Americans are closest to each other and do not show evidence of admixture with hypothetical previous populations. A review article published in the
Nature journal Nature is an inherent character or constitution, particularly of the ecosphere or the universe as a whole. In this general sense nature refers to the laws, elements and phenomena of the physical world, including life. Although humans are part ...
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 Northeast Asia or Northeastern Asia is a geographical Subregion#Asia, subregion of Asia. Its northeastern landmass and islands are bounded by the Pacific Ocean, North Pacific Ocean. The term Northeast Asia was popularized during the 1930s by Ame ...
into the Americas. These Ancestral Americans, once south of the continental ice sheets, spread and expanded rapidly, and branched into multiple groups, which later gave rise to the major subgroups of Indigenous American populations. 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". Genetic studies also determined Amerindian-like geneflow from the Americas back into Siberia, contributing some ancestry to local Siberian populations. Overall, the 'Ancestral Native Americans' descended from the admixture of an
Ancient East Asian This article summarizes the genetic makeup and population history of East Asian peoples and their connection to genetically related populations such as Southeast Asians and North Asians, as well as Oceanians, and partly, Central Asians, South Asi ...
lineage, and a Paleolithic Siberian population known as
Ancient North Eurasians In archaeogenetics, the term Ancient North Eurasian (ANE) refers to an ancestral component that represents the lineage of the people of the Mal'ta–Buret' culture () and populations closely related to them, such as the Upper Paleolithic individ ...
. Ancestral Native Americans are most closely related to ' Ancient Paleo-Siberians' and ' Ancient Beringians'. Native Americans (Amerindians) have also been described as being of "primarily East Asian ancestry, with a smaller contribution from palaeolithic West Eurasian populations", via their Ancient North Eurasian component, which has been described as the "result of a palaeolithic admixture" between ancient West Eurasians and ancient East Eurasians.


Y-chromosome DNA

A "Central Siberian" origin has been postulated for the paternal lineage of the source populations of the original migration into the Americas. Membership in haplogroups Q and C3b implies Indigenous American patrilineal descent. 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. The
Na-Dene Na-Dene ( ; also Nadene, Na-Dené, Athabaskan–Eyak–Tlingit, Tlina–Dene) is a family of Native American languages that includes at least the Athabaskan languages, Eyak, and Tlingit languages. Haida was formerly included but is now general ...
,
Inuit Inuit (singular: Inuk) are a group of culturally and historically similar Indigenous peoples traditionally inhabiting the Arctic and Subarctic regions of North America and Russia, including Greenland, Labrador, Quebec, Nunavut, the Northwe ...
, and
Native Alaskan Native may refer to: People * '' Jus sanguinis'', nationality by blood * '' Jus soli'', nationality by location of birth * Indigenous peoples, peoples with a set of specific rights based on their historical ties to a particular territory ** Nat ...
populations exhibit
haplogroup Q (Y-DNA) Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has two primary subclades: Q1/Q-L472 (also known as Q-MEH2) and Q2/Q-L275). These include numerous subclades that have been sampled and identified in males among modern populations. Q ...
mutations, but are distinct from other Indigenous Americans with various mtDNA and
autosomal DNA An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes i ...
(atDNA) mutations. This suggests that the earliest migrants into the northern extremes of North America and
Greenland Greenland is an autonomous territory in the Danish Realm, Kingdom of Denmark. It is by far the largest geographically of three constituent parts of the kingdom; the other two are metropolitan Denmark and the Faroe Islands. Citizens of Greenlan ...
derived from later migrant populations.


Haplogroup Q

Q-M242 (mutational name) is the defining (SNP) of
Haplogroup Q (Y-DNA) Haplogroup Q or Q-M242 is a Y-chromosome DNA haplogroup. It has two primary subclades: Q1/Q-L472 (also known as Q-MEH2) and Q2/Q-L275). These include numerous subclades that have been sampled and identified in males among modern populations. Q ...
(phylogenetic name). In
Eurasia Eurasia ( , ) is a continental area on Earth, comprising all of Europe and Asia. According to some geographers, Physical geography, physiographically, Eurasia is a single supercontinent. The concept of Europe and Asia as distinct continents d ...
, haplogroup Q is found among the ancient Afontova Gora specimens, and Indigenous Siberian populations, such as the modern Chukchi and Koryak peoples, as well as some Southeast Asians, such as the
Dayak people The Dayak (; older spelling: Dajak) or Dyak or Dayuh are the native groups of Borneo. It is a loose term for over 200 riverine and hill-dwelling ethnic groups, located principally in the central and southern interior of Borneo, each with its ...
. In particular, two groups exhibit large concentrations of the Q-M242 mutation, the Ket (93.8%) and the Selkup (66.4%) peoples. The Ket are thought to be the only survivors of ancient wanderers living in Siberia. Their population size is very small; there are fewer than 1,500 Ket in
Russia Russia, or the Russian Federation, is a country spanning Eastern Europe and North Asia. It is the list of countries and dependencies by area, largest country in the world, and extends across Time in Russia, eleven time zones, sharing Borders ...
.2002 The Selkup have a slightly larger population size than the Ket, with approximately 4,250 individuals. Starting the Paleo-Indigenous American period, a migration to the Americas across the
Bering Strait The Bering Strait ( , ; ) is a strait between the Pacific and Arctic oceans, separating the Chukchi Peninsula of the Russian Far East from the Seward Peninsula of Alaska. The present Russia–United States maritime boundary is at 168° 58' ...
(
Beringia Beringia is defined today as the land and maritime area bounded on the west by the Lena River in Russia; on the east by the Mackenzie River in Canada; on the north by 70th parallel north, 72° north latitude in the Chukchi Sea; and on the south ...
) by a small population carrying the Q-M242 mutation occurred. A member of this initial population underwent a mutation, which defines its descendant population, known by the Q-M3 (SNP) mutation. These descendants migrated all over the Americas.
Haplogroup Q-M3 Haplogroup Q-M3 (Y-DNA) is a Y-chromosome DNA haplogroup. Haplogroup Q-M3 is a subclade of Haplogroup Q-L54. Haplogroup Q-M3 was previously known as Haplogroup Q3; currently Q-M3 is Q1b1a1a below Q1b-M346. In 1996 the research group at Stanfo ...
is defined by the presence of the rs3894 (M3) (SNP). The Q-M3 mutation is roughly 15,000 years old as that is when the initial migration of Paleo-Indigenous Americans into the Americas occurred. Q-M3 is the predominant haplotype in the Americas, at a rate of 83% in South American populations, 50% in the Na-Dene populations, and in North American Eskimo-Aleut populations at about 46%. With minimal back-migration of Q-M3 in Eurasia, the mutation likely evolved in east-Beringia, or more specifically the
Seward Peninsula The Seward Peninsula is a large peninsula on the western coast of the U.S. state of Alaska whose westernmost point is Cape Prince of Wales. The peninsula projects about into the Bering Sea between Norton Sound, the Bering Strait, the Chukchi ...
or western Alaskan interior. The Beringia land mass began submerging, cutting off land routes.page 2
Since the discovery of Q-M3, several
subclade In genetics, a subclade is a subgroup of a haplogroup. Naming convention Although human mitochondrial DNA (mtDNA) and Y chromosome DNA (Y-DNA) haplogroups and subclades are named in a similar manner, their names belong to completely separate syst ...
s of M3-bearing populations have been discovered. An example is in
South America South America is a continent entirely in the Western Hemisphere and mostly in the Southern Hemisphere, with a considerably smaller portion in the Northern Hemisphere. It can also be described as the southern Subregion#Americas, subregion o ...
, where some populations have a high prevalence of (SNP) M19, which defines subclade Q-M19. M19 has been detected in (59%) of Amazonian
Ticuna The Ticuna (also Magüta, Tucuna, Tikuna, or Tukuna, ) are an indigenous people of Brazil (36,000'')'', indigenous peoples of Colombia, Colombia (6,000), and indigenous peoples in Peru, Peru (7,000). They are the most numerous tribe in the Brazi ...
men and in (10%) of
Wayuu The Wayuu (also Wayu, Wayú, Guajiro, Wahiro) are an Indigenous ethnic group of the Guajira Peninsula in northernmost Colombia and northwest Venezuela. The Wayuu language is part of the Arawakan language family. Throughout their history, they ...
men. Subclade M19 appears to be unique to
South American Indigenous people In South America, Indigenous peoples comprise the Pre-Columbian peoples and their descendants, as contrasted with people of European ancestry and those of African descent. In Spanish, Indigenous peoples are referred to as (), or (). The term ...
s, arising 5,000 to 10,000 years ago. This suggests that population isolation, and perhaps even the establishment of tribal groups, began soon after migration into the South American areas. Other American subclades include Q-L54, Q-Z780, Q-MEH2, Q-SA01, and Q-M346 lineages. In Canada, two other lineages have been found. These are Q-P89.1 and Q-NWT01.


Haplogroup R1b1a1a2 (M269)

R1b1a1a2 (M269) is the second most common Y-DNA haplogroup found among Indigenous Americans after Y-DNA haplogroup Q. The R1b1a1a2 (M269) lineages commonly found in Native Americans are in most cases belonged to R1b1a1a2 (M269) subclade most common in western Europeans, and its highest concentration is found among a variety of the Algonquin speaking tribes in eastern North America. Thus, according to several authors, R1b was most likely introduced through admixture during the post-
1492 Year 1492 ( MCDXCII) was a leap year starting on Sunday of the Julian calendar. 1492 is considered to be a significant year in the history of the West, Europe, Christianity, Islam, Judaism, Spain, and the New World, among others, because of the ...
European settlement of North America. R1b1a1a2 (M269) is found predominantly in North American groups like the
Ojibwe The Ojibwe (; Ojibwe writing systems#Ojibwe syllabics, syll.: ᐅᒋᐺ; plural: ''Ojibweg'' ᐅᒋᐺᒃ) are an Anishinaabe people whose homeland (''Ojibwewaki'' ᐅᒋᐺᐘᑭ) covers much of the Great Lakes region and the Great Plains, n ...
(50-79%),
Seminole The Seminole are a Native American people who developed in Florida in the 18th century. Today, they live in Oklahoma and Florida, and comprise three federally recognized tribes: the Seminole Nation of Oklahoma, the Seminole Tribe of Florida, ...
(50%),
Sioux The Sioux or Oceti Sakowin ( ; Dakota/ Lakota: ) are groups of Native American tribes and First Nations people from the Great Plains of North America. The Sioux have two major linguistic divisions: the Dakota and Lakota peoples (translati ...
(50%),
Cherokee The Cherokee (; , or ) people are one of the Indigenous peoples of the Southeastern Woodlands of the United States. Prior to the 18th century, they were concentrated in their homelands, in towns along river valleys of what is now southwestern ...
(47%), Dogrib (40%) and Tohono O'odham (Papago) (38%). Its highest frequency is found in northeastern North America, and declines in frequency from east to west. In southwestern Native American tribes the frequency of this haplogroup is as low as 4%.


Haplogroup C-P39

Haplogroup C-M217 is found mainly in Indigenous Siberians, Mongolians, and
Kazakhs The Kazakhs (Kazakh language, Kazakh: , , , ) are a Turkic peoples, Turkic ethnic group native to Central Asia and Eastern Europe. They share a common Culture of Kazakhstan, culture, Kazakh language, language and History of Kazakhstan, history ...
. Haplogroup C-M217 is the most widespread and frequently occurring branch of the greater (Y-DNA) haplogroup C-M130. Haplogroup C-M217 descendant C-P39 is most commonly found in today's Na-Dene speakers, with the greatest frequency found among the Athabaskans at 42%, and at lesser frequencies in some other Indigenous American groups. This distinct and isolated branch C-P39 includes almost all the Haplogroup C-M217 Y-chromosomes found among all Indigenous peoples of the Americas. Some researchers feel that this may indicate that the Na-Dene migration occurred from the
Russian Far East The Russian Far East ( rus, Дальний Восток России, p=ˈdalʲnʲɪj vɐˈstok rɐˈsʲiɪ) is a region in North Asia. It is the easternmost part of Russia and the Asia, Asian continent, and is coextensive with the Far Easte ...
after the initial Paleo-Indigenous American colonization, but prior to modern
Inuit Inuit (singular: Inuk) are a group of culturally and historically similar Indigenous peoples traditionally inhabiting the Arctic and Subarctic regions of North America and Russia, including Greenland, Labrador, Quebec, Nunavut, the Northwe ...
, Inupiat and Yupik expansions. In addition to in Na-Dene peoples, haplogroup C-P39 (C2b1a1a) is also found among other Indigenous Americans such as Algonquian- and
Siouan Siouan ( ), also known as Siouan–Catawban ( ), is a language family of North America located primarily in the Great Plains, Ohio and Mississippi valleys and southeastern North America with a few other languages in the east. Name Authors who ...
-speaking populations.ISOGG, 2015 "Y-DNA Haplogroup C and its Subclades – 2015"
(15 September 2015).
C-M217 is found among the
Wayuu people The Wayuu (also Wayu, Wayú, Guajiro, Wahiro) are an Indigenous ethnic group of the Guajira Peninsula in northernmost Colombia and northwest Venezuela. The Wayuu language is part of the Arawakan language family. Throughout their history, the ...
of
Colombia Colombia, officially the Republic of Colombia, is a country primarily located in South America with Insular region of Colombia, insular regions in North America. The Colombian mainland is bordered by the Caribbean Sea to the north, Venezuel ...
and
Venezuela Venezuela, officially the Bolivarian Republic of Venezuela, is a country on the northern coast of South America, consisting of a continental landmass and many Federal Dependencies of Venezuela, islands and islets in the Caribbean Sea. It com ...
.


Data

Listed here are notable Indigenous peoples of the Americas by
human Y-chromosome DNA haplogroups In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non- recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of s ...
based on relevant studies. The samples are taken from individuals identified with the
ethnic An ethnicity or ethnic group is a group of people with shared attributes, which they collectively believe to have, and long-term endogamy. Ethnicities share attributes like language, culture, common sets of ancestry, traditions, society, re ...
and
linguistic Linguistics is the scientific study of language. The areas of linguistic analysis are syntax (rules governing the structure of sentences), semantics (meaning), Morphology (linguistics), morphology (structure of words), phonetics (speech sounds ...
designations in the first two columns, the fourth column (n) is the sample size studied, and the other columns give the percentage of the particular
haplogroup A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the , ''haploûs'', "onefold, simple" and ) is a group of similar haplotypes that share a common ancestor with a sing ...
.


Mitochondrial DNA

The common occurrence of the mtDNA Haplogroups A, B, C, and D among eastern Asian and Indigenous American populations has long been recognized, along with the presence of Haplogroup X. As a whole, the greatest frequency of the four Indigenous American associated haplogroups occurs in the Altai-
Baikal Lake Baikal is a rift lake and the deepest lake in the world. It is situated in southern Siberia, Russia between the federal subjects of Irkutsk Oblast to the northwest and the Republic of Buryatia to the southeast. At —slightly larger tha ...
region of southern Siberia. Some subclades of C and D closer to the Indigenous American subclades occur among Mongolian, Amur, Japanese, Korean, and Ainu populations. A 2023 DNA study found that " addition to previously described ancestral sources in Siberia, Australo-Melanesia, and Southeast Asia, ... northern coastal
China China, officially the People's Republic of China (PRC), is a country in East Asia. With population of China, a population exceeding 1.4 billion, it is the list of countries by population (United Nations), second-most populous country after ...
also contributed to the gene pool of Native Americans" as well as that of Japanese people. When studying
human mitochondrial DNA haplogroup In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evo ...
, the results indicated that Indigenous American haplogroups, including haplogroup X, are part of a single founding East Asian population. 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 Strait The Bering Strait ( , ; ) is a strait between the Pacific and Arctic oceans, separating the Chukchi Peninsula of the Russian Far East from the Seward Peninsula of Alaska. The present Russia–United States maritime boundary is at 168° 58' ...
s populations. All Indigenous American mtDNA can be traced back to five haplogroups: A, B, C, D and X. More specifically, Indigenous American mtDNA belongs to sub-haplogroups A2, B2, C1b, C1c, C1d, D1, and X2a (with minor groups C4c, D2a, and D4h3a). This suggests that 95% of Indigenous American mtDNA is descended from a minimal genetic founding female population, comprising sub-haplogroups A2, B2, C1b, C1c, C1d, and D1. The remaining 5% is composed of the X2a, D2a, C4c, and D4h3a sub-haplogroups. X is one of the five mtDNA haplogroups found in Indigenous Americans. Native Americans mostly belong to the X2a clade, which has never been found in the
Old World The "Old World" () is a term for Afro-Eurasia coined by Europeans after 1493, when they became aware of the existence of the Americas. It is used to contrast the continents of Africa, Europe, and Asia in the Eastern Hemisphere, previously ...
. According to
Jennifer Raff Jennifer Anne Raff (born 1979, née Kedzie) is an American geneticist and an associate professor of anthropology at the University of Kansas. She specializes in anthropological genetics relating to the initial peopling of the Americas and subsequ ...
, X2a probably originated in the same Siberian population as the other four founding maternal lineages. Haplogroup X genetic sequences diverged about 20,000 to 30,000 years ago to give two sub-groups, X1 and X2. X2's subclade X2a occurs only at a frequency of about 3% for the total current Indigenous population of the Americas. However, X2a is a major mtDNA subclade in North America; among the
Algonquian peoples The Algonquians are one of the most populous and widespread North American indigenous peoples of the Americas, indigenous American groups, consisting of the peoples who speak Algonquian languages. They historically were prominent along the East ...
, it comprises up to 25% of mtDNA types. It is also present in lower percentages to the west and south of this area — among the
Sioux The Sioux or Oceti Sakowin ( ; Dakota/ Lakota: ) are groups of Native American tribes and First Nations people from the Great Plains of North America. The Sioux have two major linguistic divisions: the Dakota and Lakota peoples (translati ...
(15%), the
Nuu-chah-nulth The Nuu-chah-nulth ( ; ), also formerly referred to as the Nootka, Nutka, Aht, Nuuchahnulth or Tahkaht, are one of the Indigenous peoples of the Pacific Northwest Coast in Canada. The term Nuu-chah-nulth is used to describe fifteen related tri ...
(11%–13%), the
Navajo The Navajo or Diné are an Indigenous people of the Southwestern United States. Their traditional language is Diné bizaad, a Southern Athabascan language. The states with the largest Diné populations are Arizona (140,263) and New Mexico (1 ...
(7%), and the
Yakama The Yakama are a Native Americans in the United State, Native American tribe with nearly 10,851 members, based primarily in Eastern Washington, eastern Washington (state), Washington state. Yakama people today are enrolled in the federally rec ...
(5%). 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 The Altai Mountains (), also spelled Altay Mountains, are a mountain range in Central Asia, Central and East Asia, where Russia, China, Mongolia, and Kazakhstan converge, and where the rivers Irtysh and Ob River, Ob have their headwaters. The ...
of central Asia. Haplotype X6 was present in the Tarahumara 1.8% (1/53) and
Huichol The Huichol () or Wixárika () are an Indigenous people of Mexico living in the Sierra Madre Occidental range in the states of Nayarit, Jalisco, Zacatecas, and Durango, with considerable communities in the United States, in the states of Califo ...
20% (3/15) Sequencing of the mitochondrial genome from
Paleo-Eskimo The Paleo-Eskimo meaning ''"old Eskimos"'', also known as, pre-Thule people, Thule or pre-Inuit, were the peoples who inhabited the Arctic region from Chukotka Autonomous Okrug, Chukotka (e.g., Chertov Ovrag) in present-day Russia across North Am ...
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 Aleuts ( ; (west) or (east) ) are the Indigenous people of the Aleutian Islands, which are located between the North Pacific Ocean and the Bering Sea. Both the Aleuts and the islands are politically divided between the US state of Alaska ...
and
Siberian Yupik Siberian Yupiks, or Yuits (), are a Yupik peoples, Yupik people who reside along the coast of the Chukchi Peninsula in the far Russian Far East, northeast of the Russia, Russian Federation and on St. Lawrence Island in Alaska. They speak Si ...
populations. This suggests that the colonizers of the far north, and subsequently Greenland, originated from later coastal populations. Then began a genetic exchange in the northern extremes introduced by the
Thule people The Thule ( , ) or proto-Inuit were the ancestors of all modern Inuit. They developed in coastal Alaska by 1000 AD and expanded eastward across northern Canada, reaching Greenland by the 13th century. In the process, they replaced people of the ...
(proto-Inuit) approximately 800–1,000 years ago. 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 Inuit (singular: Inuk) are a group of culturally and historically similar Indigenous peoples traditionally inhabiting the Arctic and Subarctic regions of North America and Russia, including Greenland, Labrador, Quebec, Nunavut, the Northwe ...
. A route through Beringia is seen as more likely than the
Solutrean hypothesis The Solutrean hypothesis on the peopling of the Americas is the claim that the earliest human migration to the Americas began from Europe during the Solutrean Period, with Europeans traveling along pack ice in the Atlantic Ocean. This hypothesi ...
. An abstract in a 2012 issue of the "American Journal of Physical Anthropology" states that "The similarities in ages and geographical distributions for C4c and the previously analyzed X2a lineage provide support to the scenario of a dual origin for Paleo-Indigenous Americans. Taking into account that C4c is deeply rooted in the Asian portion of the mtDNA phylogeny and is indubitably of Asian origin, the finding that C4c and X2a are characterized by parallel genetic histories definitively dismisses the controversial hypothesis of an Atlantic glacial entry route into North America." Another study, also focused on the mtDNA (which is inherited through only the maternal line), revealed that the Indigenous people of the Americas can trace their maternal ancestry back to a few founding lineages from East Asia, which would have arrived by way of the Bering Strait. According to this study, it is probable that the ancestors of the Indigenous Americans would have remained for a time in the region of the
Bering Strait The Bering Strait ( , ; ) is a strait between the Pacific and Arctic oceans, separating the Chukchi Peninsula of the Russian Far East from the Seward Peninsula of Alaska. The present Russia–United States maritime boundary is at 168° 58' ...
, after which there would have been a rapid movement of settling of the Americas, taking the founding lineages to
South America South America is a continent entirely in the Western Hemisphere and mostly in the Southern Hemisphere, with a considerably smaller portion in the Northern Hemisphere. It can also be described as the southern Subregion#Americas, subregion o ...
. According to a 2016 study, focused on mtDNA lineages, "a small population entered the Americas via a coastal route around 16.0 ka, following previous isolation in eastern Beringia for ~2.4 to 9 thousand years after separation from eastern Siberian populations. Following a rapid movement throughout the Americas, limited gene flow in South America resulted in a marked phylogeographic structure of populations, which persisted through time. All of the ancient mitochondrial lineages detected in this study were absent from modern data sets, suggesting a high
extinction Extinction is the termination of an organism by the death of its Endling, last member. A taxon may become Functional extinction, functionally extinct before the death of its last member if it loses the capacity to Reproduction, reproduce and ...
rate. To investigate this further, we applied a novel principal components multiple logistic regression test to Bayesian serial coalescent simulations. The analysis supported a scenario in which European colonization caused a substantial loss of pre-Columbian lineages".


Genetic admixture


Ancient Beringians

Recent archaeological findings in Alaska have shed light on the existence of a previously unknown Indigenous American population that has been academically named "
Ancient Beringian The Ancient Beringian (AB) is a human archaeogenetic lineage, based on the genome of an infant found at the Upward Sun River site (dubbed USR1), dated to 11,500 years ago. The AB lineage diverged from the Ancestral Native American (ANA) linea ...
s". 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. In 2018, the sequenced DNA of an Indigenous girl, whose remains were found at the Upward Sun River archaeological site in Alaska in 2013, proved not to match the two recognized branches of Indigenous Americans and instead belonged to the early population of Ancient Beringians. 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. The migration wave is estimated to have emerged about 20,000 years ago. The Ancient Beringians are said to be a common ancestral group among contemporary Indigenous American populations today, which differs in results collected from previous research that suggests that modern populations are descendants of either Northern and Southern branches. Experts were also able to use wider genetic evidence to establish that the split between the Northern and Southern American branches from the Ancient Beringians in Alaska only occurred about 17,000 and 14,000 years, further challenging the concept of multiple migration waves occurring during the very first stages of settlement. Genetic evidence for Paleo-Indigenous Americans consists of the presence of apparent admixture of archaic Sundadont lineages to the remote populations in the South American rain forest, and in the genetics of Patagonians-Fuegians. Nomatto et al. (2009) proposed migration into Beringia occurred between 40,000 and 30,000 BP, with a pre-LGM (Last Glacial Maximum) migration into the Americas followed by isolation of the northern population following closure of the ice-free corridor. A 2016 genetic study of Indigenous peoples of the Amazonian region of Brazil (by Skoglund and Reich) showed evidence of admixture from a separate lineage of an otherwise unknown ancient people. This ancient group appears to be related to modern day "
Australasia Australasia is a subregion of Oceania, comprising Australia, New Zealand (overlapping with Polynesia), and sometimes including New Guinea and surrounding islands (overlapping with Melanesia). The term is used in a number of different context ...
n" peoples (i.e.
Aboriginal Australians Aboriginal Australians are the various indigenous peoples of the Mainland Australia, Australian mainland and many of its islands, excluding the ethnically distinct people of the Torres Strait Islands. Humans first migrated to Australia (co ...
and
Melanesians Melanesians are the predominant and Indigenous peoples of Oceania, indigenous inhabitants of Melanesia, in an area stretching from New Guinea to the Fiji Islands. Most speak one of the many languages of the Austronesian languages, Austronesian l ...
). This "
Ghost population A ghost population is a population that has been inferred through using statistical techniques. Population studies In 2004, it was proposed that maximum likelihood or Bayesian approaches that estimate the migration rates and population sizes usin ...
" was found in speakers of
Tupian languages The Tupi or Tupian language family comprises some 70 languages spoken in South America, of which the best known are Tupi proper and Guarani. Homeland and ''urheimat'' Rodrigues (2007) considers the Proto-Tupian urheimat to be somewhere betwee ...
. They provisionally named this ancient group; "Population Y", after Ypykuéra, "which means 'ancestor' in the Tupi language family". A 2021 genetic study dismissed the existence of an hypothetical Australasian component among Indigenous Americans. The signal of the hypothetical Australasian component, can also be reproduced using the Basal-East Asian
Tianyuan man Tianyuan man ( zh, t=田園洞人, s=田园洞人, p=Tiányuándòng Rén) are the remains of one of the earliest modern humans to inhabit East Asia. In 2007, researchers found 34 bone fragments belonging to a single individual at the Tianyuan ...
sample, and thus does not represent "real Australasian affinity". The authors explained that the previous claims of possibly Australasian ancestry were based on a misinterpreted genetic echo, which was revealed to represent early East-Eurasian gene flow (represented by the 40,000 BC old Tianyuan sample) into Aboriginal Australians and Papuans, which was lost in modern East Asians. Archaeological evidence for pre-LGM human presence in the Americas was first presented in the 1970s. notably the "
Luzia Woman Luzia Woman () is the name for an Upper Paleolithic period skeleton of a Paleo-Indians, Paleo-Indian woman who was found in a cave in Brazil. The 11,500-year-old skeleton was found in a cave in the Lapa Vermelha archeological site in Pedro Leopol ...
" skull found in Brazil.


Old world

Substantial racial admixture has taken place during and since the
European colonization of the Americas During the Age of Discovery, a large scale colonization of the Americas, involving a number of European countries, took place primarily between the late 15th century and the early 19th century. The Norse explored and colonized areas of Europe a ...
.


South and Central America

In Latin America in particular, significant racial admixture took place between the Indigenous American population, the European-descended colonial population, and the Sub-Saharan African populations imported as slaves. From about 1700, a Latin American terminology developed to refer to the various combinations of mixed racial descent produced by this. Many individuals who self-identify as one race exhibit genetic evidence of a multiracial ancestry. 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 The Iberian Peninsula ( ), also known as Iberia, is a peninsula in south-western Europe. Mostly separated from the rest of the European landmass by the Pyrenees, it includes the territories of peninsular Spain and Continental Portugal, comprisin ...
(
Spain Spain, or the Kingdom of Spain, is a country in Southern Europe, Southern and Western Europe with territories in North Africa. Featuring the Punta de Tarifa, southernmost point of continental Europe, it is the largest country in Southern Eur ...
and
Portugal Portugal, officially the Portuguese Republic, is a country on the Iberian Peninsula in Southwestern Europe. Featuring Cabo da Roca, the westernmost point in continental Europe, Portugal borders Spain to its north and east, with which it share ...
). The new soldier-settlers fathered children with Indigenous American women and later with
African slaves Slavery has historically been widespread in Africa. Systems of servitude and slavery were once commonplace in parts of Africa, as they were in much of the rest of the ancient and medieval world. When the trans-Saharan slave trade, Red Sea sl ...
. These
mixed-race The term multiracial people refers to people who are mixed with two or more races and the term multi-ethnic people refers to people who are of more than one ethnicities. A variety of terms have been used both historically and presently for mul ...
children were generally identified by the Spanish colonist and Portuguese colonist as ''"
Casta () is a term which means "Lineage (anthropology), lineage" in Spanish and Portuguese and has historically been used as a racial and social identifier. In the context of the Spanish America, Spanish Empire in the Americas, the term also refer ...
s"''.


North America

The
North American fur trade The North American fur trade is the (typically) historical Fur trade, commercial trade of furs and other goods in North America, beginning in the eastern provinces of French Canada and the northeastern Thirteen Colonies, American colonies (soon- ...
during the 16th century brought many European men, from
France France, officially the French Republic, is a country located primarily in Western Europe. Overseas France, Its overseas regions and territories include French Guiana in South America, Saint Pierre and Miquelon in the Atlantic Ocean#North Atlan ...
,
Ireland Ireland (, ; ; Ulster Scots dialect, Ulster-Scots: ) is an island in the North Atlantic Ocean, in Northwestern Europe. Geopolitically, the island is divided between the Republic of Ireland (officially Names of the Irish state, named Irelan ...
, and
Great Britain Great Britain is an island in the North Atlantic Ocean off the north-west coast of continental Europe, consisting of the countries England, Scotland, and Wales. With an area of , it is the largest of the British Isles, the List of European ...
, who married Indigenous North American women. In the areas where these peoples formed communities, and developed a unique,
syncretic Syncretism () is the practice of combining different beliefs and various schools of thought. Syncretism involves the merging or assimilation of several originally discrete traditions, especially in the theology and mythology of religion, thus ...
culture, their children became known as ''"
Métis The Métis ( , , , ) are a mixed-race Indigenous people whose historical homelands include Canada's three Prairie Provinces extending into parts of Ontario, British Columbia, the Northwest Territories and the northwest United States. They ha ...
"'' or ''"
Bois-Brûlés Bois-Brûlés (''burnt wood'') are Métis. The name is most frequently associated with the French-speaking Métis of the Red River Colony in the Red River valley of Canada and the United States. The Bois-Brûlés, led by their leader Cuthbert ...
"'' by the French colonists. In some contexts these peoples have also been referred to as ''"
mixed-blood The term mixed-blood in the United States and Canada has historically been described as people of multiracial backgrounds, in particular mixed European and Native American ancestry. Today, the term is often seen as pejorative. Northern Woo ...
s"'', or ''" country-born"'' by the English and
Scottish Scottish usually refers to something of, from, or related to Scotland, including: *Scottish Gaelic, a Celtic Goidelic language of the Indo-European language family native to Scotland *Scottish English *Scottish national identity, the Scottish ide ...
colonists.
Native Americans in the United States Native Americans (also called American Indians, First Americans, or Indigenous Americans) are the Indigenous peoples of the Americas, Indigenous peoples of the United States, particularly of the Contiguous United States, lower 48 states and A ...
are defined by citizenship, culture, and familial relationships, not race. Having never defined Native American identity as racial, historically, Native Americans have commonly practiced what mainstream society defines as
interracial marriage Interracial marriage is a marriage involving spouses who belong to different "Race (classification of human beings), races" or Ethnic group#Ethnicity and race, racialized ethnicities. In the past, such marriages were outlawed in the United Sta ...
, which has affected racial ideas of
blood quantum Blood quantum laws or Indian blood laws are laws that define Native Americans in the United States status by fractions of Native American ancestry. These laws were enacted by the Federal government of the United States, federal government and S ...
. In the United States 2010 census, nearly 3 million people indicated that their race was Indigenous American (including Alaskan Native). This is based on self-identification, as the census does not require documentation of this belief. Especially numerous was the self-identification of
Cherokee The Cherokee (; , or ) people are one of the Indigenous peoples of the Southeastern Woodlands of the United States. Prior to the 18th century, they were concentrated in their homelands, in towns along river valleys of what is now southwestern ...
ethnic origin, a phenomenon dubbed the " Cherokee Syndrome", where some Americans believe they have a "long-lost Cherokee ancestor" without being able to identify any Cherokee or Native American people in their family tree or among their living relatives. 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. In the Eastern United States, in particular, pretendians are common. Some tribes have adopted
blood quantum Blood quantum laws or Indian blood laws are laws that define Native Americans in the United States status by fractions of Native American ancestry. These laws were enacted by the Federal government of the United States, federal government and S ...
requirements, or Certificates of Degree of Indian Blood, and practice disenrollment of tribal members unable to prove they are the child of an enrolled tribal member. In these cases, the tribe may demand a
paternity test DNA paternity testing uses DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be essential when the rights and duties of the father are in issue, and a child's paternity is in d ...
. For some, this has become a contentious issue in Native American reservation politics.


European diseases and genetic modification

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 Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subs ...
to test immune-related gene variants within Indigenous Americans. Through analyzing ancient and modern Indigenous DNA, it was found that
HLA-DQA1 Major histocompatibility complex, class II, DQ alpha 1, also known as HLA-DQA1, is a human gene present on short arm of chromosome 6 (6p21.3) and also denotes the genetic locus which contains this gene. The protein encoded by this gene is one of ...
, a variant gene that codes for protein in charge of differentiating between healthy cells from invading viruses and bacteria were present in nearly 100% of ancient remains but only 36% in modern Indigenous Americans. These finding suggest that European-borne epidemics such as
smallpox Smallpox was an infectious disease caused by Variola virus (often called Smallpox virus), which belongs to the genus '' Orthopoxvirus''. The last naturally occurring case was diagnosed in October 1977, and the World Health Organization (W ...
altered the disease landscape of the Americas, leaving survivors of these outbreaks less likely to carry variants like HLA-DQA1. This made them less able to cope with new diseases. 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.


Blood groups

Prior to the 1952 confirmation of DNA as the hereditary material by
Alfred Hershey Alfred Day Hershey (December 4, 1908 – May 22, 1997) was an American Nobel Prize–winning bacteriologist and geneticist. Early years Hershey was born in Owosso, Michigan to Robert Day and Alma Wilbur Hershey. He earned a B.S. in chemistr ...
and Martha Chase, scientists used
blood proteins Plasma proteins, sometimes referred to as blood proteins, are proteins present in blood plasma. They perform many different functions, including transport of hormones, vitamins and minerals in activity and functioning of the immune system. Other ...
to study human genetic variation. The
ABO blood group system The ABO blood group system is used to denote the presence of one, both, or neither of the A and B antigens on erythrocytes (red blood cells). For human blood transfusions, it is the most important of the 47 different blood type (or group) c ...
is widely credited to have been discovered by the Austrian
Karl Landsteiner Karl Landsteiner (; 14 June 1868 – 26 June 1943) was an Austrian-American biologist, physician, and immunologist. He emigrated with his family to New York in 1923 at the age of 55 for professional opportunities, working for the Rockefeller ...
, who found three different blood types in 1900. Blood groups are inherited from both parents. The ABO blood type is controlled by a single
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
(the
ABO gene Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ''ABO'' gene in humans. It is ubiquitously expressed in many tissues and cell types. ABO determines the ABO blood group of an individ ...
) with three
allele An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), ...
s: ''i'', ''IA'', and ''IB''. Research by Ludwik and Hanka Herschfeld during
World War I World War I or the First World War (28 July 1914 – 11 November 1918), also known as the Great War, was a World war, global conflict between two coalitions: the Allies of World War I, Allies (or Entente) and the Central Powers. Fighting to ...
found that the frequencies of blood groups A, B and O differed greatly from region to region. The "O" blood type (usually resulting from the absence of both A and B alleles) is very common around the world, with a rate of 63% in all human populations. Type "O" is the primary blood type among the Indigenous populations of the Americas, particularly within Central and South American populations, with a frequency of nearly 100%. In Indigenous North American populations the frequency of type "A" ranges from 16% to 82%. This suggests again that the initial Indigenous Americans evolved from an isolated population with a minimal number of individuals. The standard explanation for such a high population of Indigenous Americans with blood type O is
genetic drift Genetic drift, also known as random genetic drift, allelic drift or the Wright effect, is the change in the Allele frequency, frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene va ...
. Because the ancestral population of Indigenous Americans was numerically small, blood type diversity could have been reduced from generation to generation by the
founder effect In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, us ...
. Other related explanations include the Bottleneck explanation which states that there were high frequencies of blood type A and B among Indigenous Americans but severe population decline during the 1500s and 1600s caused by the introduction of disease from Europe resulted in the massive death toll of those with blood types A and B. Coincidentally, a large amount of the survivors were type O. The Dia antigen of the Diego antigen system has been found only in Indigenous peoples of the Americas and East Asians, and in people with some ancestry from those groups. The frequency of the Dia antigen in various groups of Indigenous peoples of the Americas ranges from almost 50% to 0%. Differences in the frequency of the antigen in populations of Indigenous people in the Americas correlate with major language families, modified by environmental conditions.


See also

*
Introduction to genetics Genetics is the study of genes and tries to explain what they are and how they work. Genes are how living organisms inherit features or Phenotypic trait, traits from their ancestors; for example, children usually look like their parents becaus ...
*
Archaeogenetics Archaeogenetics is the study of ancient DNA using various molecular genetic methods and DNA resources. This form of genetic analysis can be applied to human, animal, and plant specimens. Ancient DNA can be extracted from various fossilized spec ...
*
Archaeology of the Americas The archaeology of the Americas is the study of the archaeology of the Western Hemisphere, including North America (Mesoamerica), Central America, South America and the Caribbean. This includes the study of pre-historic/pre-Columbian and historic ...
*
Ancient DNA Ancient DNA (aDNA) is DNA isolated from ancient sources (typically Biological specimen, specimens, but also environmental DNA). Due to degradation processes (including Crosslinking of DNA, cross-linking, deamination and DNA fragmentation, fragme ...
*
Clovis culture The Clovis culture is an archaeological culture from the Paleoindian period of North America, spanning around 13,050 to 12,750 years Before Present (BP). The type site is Blackwater Draw locality No. 1 near Clovis, New Mexico, where stone too ...
*
Early human migrations Early human migrations are the earliest migrations and expansions of archaic and modern humans across continents. They are believed to have begun approximately 2 million years ago with the early expansions out of Africa by ''Homo erectu ...
*
Genetic history of Africa The genetic history of Africa summarizes the genetic makeup and population history of Demographics of Africa, African populations in Africa, composed of the overall genetic history, including the regional genetic histories of Genetic history o ...
* Genetic history of Europe * Genetic history of Italy * Genetic history of North Africa * Genetic history of the British Isles * Genetic history of the Iberian Peninsula * Genetic history of the Middle East * Genetics and archaeogenetics of South Asia * List of haplogroups of historic people * Mayan genetics * Race and genetics * * List of Y-chromosome haplogroups in populations of the world


Notes


References


Further reading

* * * * * * {{DEFAULTSORT:Genetic history of Indigenous peoples of the Americas Indigenous peoples of the Americas, Genetics Modern human genetic history, New World Genetic genealogy Genetics by ethnicity, Americans History of Indigenous peoples of the Americas History of Indigenous peoples of North America, Genetics Indigenous topics of the Caribbean Indigenous topics of South America, Genetic history History of South America Native American topics, Genetics Native American history, Genetics Indigenous peoples in the United States, Genetics Pleistocene Pre-Columbian era, Genetics Indigenous peoples in Canada, Genetics History of Indigenous peoples in Canada, Genetics