Haplogroup O1 (Y-DNA)
Encyclopedia
In human genetics, Haplogroup O1 (MSY2.2) is a Y-chromosome DNA haplogroup
. Haplogroup O1 is a descendent branch of the greater Haplogroup O
.The great majority of Y-chromosomes within Haplogroup O1 belong to its subgroup O1a (M119).
(Upper Paleolithic
) in Southeast Asia. The genetic marker
, Haplogroup O1a-M119 is found frequently among Austronesian peoples, Kradai peoples
, and various other ethnic minorities in China
. This lineage is presumed to be a marker of the prehistoric Austronesian expansion, with possible origins encompassing the regions along the southeastern coast of China and neighboring Taiwan
, and is found among modern populations of Maritime Southeast Asia
and Oceania
.
A 2009 study by Karafet et al. at the University of Arizona
suggests haplogroup O1 was part of a four-phase colonization model in which Paleolithic migrations of hunter-gatherers shaped the primary structure of current Y chromosome diversity of Maritime Southeast Asia
. Neolithic incursions made only a minor impact on the paternal gene pool, despite the large cultural impact of the Austronesian expansion. Approximately 5000 BCE, Haplogroup O1 coalesced at Sundaland
and migrated northwards to as far as Taiwan, where O1a2 constitutes some 90% of the Aboriginal Y-DNA, being the main haplogroup that can be directly linked to the Austronesian expansion in phase 3.
Li et al. at the Yale University
Department of Genetics, School of Medicine, concluded that in contrast to the Taiwan homeland hypothesis, Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. According to their results, lineages within Maritime Southeast Asia
did not originate from Taiwanese aborigines as linguistic studies suggest. Taiwan aborigines and Indonesians were likely to have been derived from the Daic populations based on their paternal lineages, and therefore evolved independently of each other.
The strongest positive correlation between Haplogroup O1 and ethnolinguistic affiliation is that which is observed between this haplogroup and the Austronesians
. The peak frequency of Haplogroup O1 is found among the aborigines of Taiwan, precisely the region from which linguists have hypothesized that the Austronesian language family
originated. A slightly weaker correlation is observed between Haplogroup O1 and the Han Chinese populations of southern China, as well as between this haplogroup and the Kradai-speaking populations of southern China and Southeast Asia. The distribution of Daic languages
in Thailand and other parts of Southeast Asia outside of China has long been believed, for reasons of traditional linguistic geography, to reflect a recent invasion of Southeast Asia by Daic-speaking populations originating from southeastern China, and the somewhat elevated frequency of Haplogroup O1 among the Daic populations, coupled with a high frequency of Haplogroup O2a
, which is a genetic characteristic of the Austro-Asiatic
peoples of Southeast Asia, suggests that the genetic signature of the Daic peoples' affinity with populations of southeastern China has been weakened due to extensive assimilation of the earlier Austro-Asiatic residents of the lands which the Daic peoples invaded. Also, it has been noted that Haplogroup O1 lineages among populations of continental Southeast Asia outside of China display a reduced level of diversity when compared with populations of South China and insular Southeast Asia, which may be evidence of a bottleneck associated with the westward migration and settlement of ancestral Daic-speaking populations in Indochina.
, Indonesia
, the Philippines
, southern China and Taiwan
.
Haplogroup O1a-M119 Y-chromosomes also have been found to occur at low frequency among various populations of Siberia
, such as the Nivkhs
(one of 17 sampled Y-chromosomes), Ulchi
/Nanai (2/53), Yenisey Evenks
(1/31), and especially the Buryats
living in the Sayan
-Baikal
uplands of Irkutsk Oblast
(6/13).
Department of Genetics, School of Medicine, demonstrated that the admixture
analyses of Daic populations showed a significant genetic influence over a large proportion of Indonesians. Most of the population samples contained a high frequency of haplogroup O1a-M119.
The frequencies of Haplogroup O1 among various East Asian and Austronesian populations suggest a complex genetic history of the modern Han
populations of southern China. Although Haplogroup O1 occurs only at an average frequency of approximately 4% among Han populations of northern China and peoples of southwestern China and Southeast Asia who speak Tibeto-Burman languages
, the frequency of this haplogroup among the Han populations of southern China nearly quadruples to about 15%. The frequency of Haplogroup O1 among the Southern Han has been found to be slightly greater than the arithmetic mean of the frequencies of Haplogroup O1 among the Northern Han and a pooled sample of Austronesian populations. This suggests that modern Southern Han populations may possess a non-trivial number of male ancestors who were originally affiliated with some Austronesian-related culture, or who at least shared a genetic affinity with many of the ancestors of modern Austronesian peoples.
s of Haplogroup O1 with their defining mutation(s), according to the 2010 ISOGG tree:
Human Y-chromosome DNA haplogroups
In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
. Haplogroup O1 is a descendent branch of the greater Haplogroup O
Haplogroup O (Y-DNA)
In human genetics, Haplogroup O is a Y-chromosome DNA haplogroup. Haplogroup O is a close cladistic brother group with Haplogroup N, and is one of several descendants of Haplogroup K ....
.The great majority of Y-chromosomes within Haplogroup O1 belong to its subgroup O1a (M119).
Origins
The Haplogroup O1 branch is believed to have evolved during the Late PleistoceneLate Pleistocene
The Late Pleistocene is a stage of the Pleistocene Epoch. The beginning of the stage is defined by the base of the Eemian interglacial phase before the final glacial episode of the Pleistocene 126,000 ± 5,000 years ago. The end of the stage is defined exactly at 10,000 Carbon-14 years BP...
(Upper Paleolithic
Upper Paleolithic
The Upper Paleolithic is the third and last subdivision of the Paleolithic or Old Stone Age as it is understood in Europe, Africa and Asia. Very broadly it dates to between 40,000 and 10,000 years ago, roughly coinciding with the appearance of behavioral modernity and before the advent of...
) in Southeast Asia. The genetic marker
Genetic marker
A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify cells, individuals or species. It can be described as a variation that can be observed...
, Haplogroup O1a-M119 is found frequently among Austronesian peoples, Kradai peoples
Tai peoples
The Tai ethnicity refers collectively to the ethnic groups of southern China and Southeast Asia, stretching from Hainan to eastern India and from southern Sichuan to Laos, Thailand, and parts of Vietnam, which speak languages in the Tai family and share similar traditions and festivals, including...
, and various other ethnic minorities in China
Ethnic minorities in China
Ethnic minorities in China are the non-Han Chinese population in the People's Republic of China. The People's Republic of China officially recognizes 55 ethnic minority groups within China in addition to the Han majority. As of 2010, the combined population of officially recognised minority...
. This lineage is presumed to be a marker of the prehistoric Austronesian expansion, with possible origins encompassing the regions along the southeastern coast of China and neighboring Taiwan
Taiwan
Taiwan , also known, especially in the past, as Formosa , is the largest island of the same-named island group of East Asia in the western Pacific Ocean and located off the southeastern coast of mainland China. The island forms over 99% of the current territory of the Republic of China following...
, and is found among modern populations of Maritime Southeast Asia
Maritime Southeast Asia
Maritime Southeast Asia refers to the maritime region of Southeast Asia as opposed to mainland Southeast Asia and includes the modern countries of Indonesia, Malaysia, the Philippines, Brunei, East Timor and Singapore....
and Oceania
Oceania
Oceania is a region centered on the islands of the tropical Pacific Ocean. Conceptions of what constitutes Oceania range from the coral atolls and volcanic islands of the South Pacific to the entire insular region between Asia and the Americas, including Australasia and the Malay Archipelago...
.
A 2009 study by Karafet et al. at the University of Arizona
University of Arizona
The University of Arizona is a land-grant and space-grant public institution of higher education and research located in Tucson, Arizona, United States. The University of Arizona was the first university in the state of Arizona, founded in 1885...
suggests haplogroup O1 was part of a four-phase colonization model in which Paleolithic migrations of hunter-gatherers shaped the primary structure of current Y chromosome diversity of Maritime Southeast Asia
Maritime Southeast Asia
Maritime Southeast Asia refers to the maritime region of Southeast Asia as opposed to mainland Southeast Asia and includes the modern countries of Indonesia, Malaysia, the Philippines, Brunei, East Timor and Singapore....
. Neolithic incursions made only a minor impact on the paternal gene pool, despite the large cultural impact of the Austronesian expansion. Approximately 5000 BCE, Haplogroup O1 coalesced at Sundaland
Sundaland
Sundaland is a biogeographical region of Southeastern Asia which encompasses the areas of the Asian continental shelf that was exposed during the last ice age. It included the Malay Peninsula on the Asian mainland, as well as the large islands of Borneo, Java, and Sumatra and their surrounding...
and migrated northwards to as far as Taiwan, where O1a2 constitutes some 90% of the Aboriginal Y-DNA, being the main haplogroup that can be directly linked to the Austronesian expansion in phase 3.
Li et al. at the Yale University
Yale University
Yale University is a private, Ivy League university located in New Haven, Connecticut, United States. Founded in 1701 in the Colony of Connecticut, the university is the third-oldest institution of higher education in the United States...
Department of Genetics, School of Medicine, concluded that in contrast to the Taiwan homeland hypothesis, Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. According to their results, lineages within Maritime Southeast Asia
Maritime Southeast Asia
Maritime Southeast Asia refers to the maritime region of Southeast Asia as opposed to mainland Southeast Asia and includes the modern countries of Indonesia, Malaysia, the Philippines, Brunei, East Timor and Singapore....
did not originate from Taiwanese aborigines as linguistic studies suggest. Taiwan aborigines and Indonesians were likely to have been derived from the Daic populations based on their paternal lineages, and therefore evolved independently of each other.
The strongest positive correlation between Haplogroup O1 and ethnolinguistic affiliation is that which is observed between this haplogroup and the Austronesians
Austronesian people
The Austronesian-speaking peoples are various populations in Oceania and Southeast Asia that speak languages of the Austronesian family. They include Taiwanese aborigines; the majority ethnic groups of East Timor, Indonesia, Malaysia, the Philippines, Brunei, Madagascar, Micronesia, and Polynesia,...
. The peak frequency of Haplogroup O1 is found among the aborigines of Taiwan, precisely the region from which linguists have hypothesized that the Austronesian language family
Austronesian languages
The Austronesian languages are a language family widely dispersed throughout the islands of Southeast Asia and the Pacific, with a few members spoken on continental Asia that are spoken by about 386 million people. It is on par with Indo-European, Niger-Congo, Afroasiatic and Uralic as one of the...
originated. A slightly weaker correlation is observed between Haplogroup O1 and the Han Chinese populations of southern China, as well as between this haplogroup and the Kradai-speaking populations of southern China and Southeast Asia. The distribution of Daic languages
Tai languages
The Tai or Zhuang–Tai languages are a branch of the Tai–Kadai language family. The Tai languages include the most widely spoken of the Tai–Kadai languages, including standard Thai or Siamese, the national language of Thailand; Lao or Laotian, the national language of Laos; Burma's Shan language;...
in Thailand and other parts of Southeast Asia outside of China has long been believed, for reasons of traditional linguistic geography, to reflect a recent invasion of Southeast Asia by Daic-speaking populations originating from southeastern China, and the somewhat elevated frequency of Haplogroup O1 among the Daic populations, coupled with a high frequency of Haplogroup O2a
Haplogroup O2a (Y-DNA)
In genetics, Haplogroup O2a is a human Y-chromosome DNA haplogroup.Haplogroup O2a is a descendent branch of Haplogroup O2. Its closest extant phylogenetic relatives are the Haplogroup O2* Y-chromosomes found at a low frequency throughout most of East Eurasia and the Haplogroup O2b Y-chromosomes...
, which is a genetic characteristic of the Austro-Asiatic
Austro-Asiatic languages
The Austro-Asiatic languages, in recent classifications synonymous with Mon–Khmer, are a large language family of Southeast Asia, also scattered throughout India and Bangladesh. The name Austro-Asiatic comes from the Latin words for "south" and "Asia", hence "South Asia"...
peoples of Southeast Asia, suggests that the genetic signature of the Daic peoples' affinity with populations of southeastern China has been weakened due to extensive assimilation of the earlier Austro-Asiatic residents of the lands which the Daic peoples invaded. Also, it has been noted that Haplogroup O1 lineages among populations of continental Southeast Asia outside of China display a reduced level of diversity when compared with populations of South China and insular Southeast Asia, which may be evidence of a bottleneck associated with the westward migration and settlement of ancestral Daic-speaking populations in Indochina.
Distribution
Haplogroup O1 lineages are found primarily in Southeast Asian populations of Malaysia, VietnamVietnam
Vietnam – sometimes spelled Viet Nam , officially the Socialist Republic of Vietnam – is the easternmost country on the Indochina Peninsula in Southeast Asia. It is bordered by China to the north, Laos to the northwest, Cambodia to the southwest, and the South China Sea –...
, Indonesia
Indonesia
Indonesia , officially the Republic of Indonesia , is a country in Southeast Asia and Oceania. Indonesia is an archipelago comprising approximately 13,000 islands. It has 33 provinces with over 238 million people, and is the world's fourth most populous country. Indonesia is a republic, with an...
, the Philippines
Philippines
The Philippines , officially known as the Republic of the Philippines , is a country in Southeast Asia in the western Pacific Ocean. To its north across the Luzon Strait lies Taiwan. West across the South China Sea sits Vietnam...
, southern China and Taiwan
Taiwan
Taiwan , also known, especially in the past, as Formosa , is the largest island of the same-named island group of East Asia in the western Pacific Ocean and located off the southeastern coast of mainland China. The island forms over 99% of the current territory of the Republic of China following...
.
Haplogroup O1a-M119 Y-chromosomes also have been found to occur at low frequency among various populations of Siberia
Siberia
Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
, such as the Nivkhs
Nivkhs
The Nivkh are an indigenous ethnic group inhabiting the northern half of Sakhalin Island and the region of the Amur River estuary in Russia's Khabarovsk Krai. Nivkh were mainly fishermen, hunters, and dog breeders...
(one of 17 sampled Y-chromosomes), Ulchi
Ulchs
The Ulch are an indigenous people of the Russian Far East who speak a Tungusic language, Ulch. Over 90% of Ulchis live in Ulchsky District of Khabarovsk Krai, Russia...
/Nanai (2/53), Yenisey Evenks
Evenks
The Evenks are a Tungusic people of Northern Asia. In Russia, the Evenks are recognized as one of the Indigenous peoples of the Russian North, with a population of 35,527...
(1/31), and especially the Buryats
Buryats
The Buryats or Buriyads , numbering approximately 436,000, are the largest ethnic minority group in Siberia and are mainly concentrated in their homeland, the Buryat Republic, a federal subject of Russia...
living in the Sayan
Sayan Mountains
The Sayan Mountains are a mountain range between northwestern Mongolia and southern Siberia, Russia.The Eastern Sayan extends from the Yenisei River at 92° E to the southwest end of Lake Baikal at 106° E...
-Baikal
Lake Baikal
Lake Baikal is the world's oldest at 30 million years old and deepest lake with an average depth of 744.4 metres.Located in the south of the Russian region of Siberia, between Irkutsk Oblast to the northwest and the Buryat Republic to the southeast, it is the most voluminous freshwater lake in the...
uplands of Irkutsk Oblast
Irkutsk Oblast
Irkutsk Oblast is a federal subject of Russia , located in southeastern Siberia in the basins of Angara River, Lena, and Nizhnyaya Tunguska Rivers. The administrative center is the city of Irkutsk. Population: -History:...
(6/13).
Frequencies
A 2008 study by Li et al. at Yale UniversityYale University
Yale University is a private, Ivy League university located in New Haven, Connecticut, United States. Founded in 1701 in the Colony of Connecticut, the university is the third-oldest institution of higher education in the United States...
Department of Genetics, School of Medicine, demonstrated that the admixture
Admixture
Admixture can refer to:* Genetic admixture, the result of interbreeding between two or more previously isolated populations within a species.* Racial admixture, admixture between humans, also referred to as Miscegenation* Hybrid...
analyses of Daic populations showed a significant genetic influence over a large proportion of Indonesians. Most of the population samples contained a high frequency of haplogroup O1a-M119.
The frequencies of Haplogroup O1 among various East Asian and Austronesian populations suggest a complex genetic history of the modern Han
Han Chinese
Han Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the...
populations of southern China. Although Haplogroup O1 occurs only at an average frequency of approximately 4% among Han populations of northern China and peoples of southwestern China and Southeast Asia who speak Tibeto-Burman languages
Tibeto-Burman languages
The Tibeto-Burman languages are the non-Chinese members of the Sino-Tibetan language family, over 400 of which are spoken thoughout the highlands of southeast Asia, as well as lowland areas in Burma ....
, the frequency of this haplogroup among the Han populations of southern China nearly quadruples to about 15%. The frequency of Haplogroup O1 among the Southern Han has been found to be slightly greater than the arithmetic mean of the frequencies of Haplogroup O1 among the Northern Han and a pooled sample of Austronesian populations. This suggests that modern Southern Han populations may possess a non-trivial number of male ancestors who were originally affiliated with some Austronesian-related culture, or who at least shared a genetic affinity with many of the ancestors of modern Austronesian peoples.
Subgroups
The subcladeSubclade
In genetics, subclade is a term used to describe a subgroup of a subgenus or haplogroup. It is commonly used today in describing genealogical DNA tests of human mitochondrial DNA haplogroups and human Y-chromosome DNA haplogroups....
s of Haplogroup O1 with their defining mutation(s), according to the 2010 ISOGG tree:
- O1 (MSY2.2)
- O1*
- O1a (M119) Found frequently in AustronesiansAustronesian peopleThe Austronesian-speaking peoples are various populations in Oceania and Southeast Asia that speak languages of the Austronesian family. They include Taiwanese aborigines; the majority ethnic groups of East Timor, Indonesia, Malaysia, the Philippines, Brunei, Madagascar, Micronesia, and Polynesia,...
, southern Han ChineseHan ChineseHan Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the...
, and Tai peoplesTai peoplesThe Tai ethnicity refers collectively to the ethnic groups of southern China and Southeast Asia, stretching from Hainan to eastern India and from southern Sichuan to Laos, Thailand, and parts of Vietnam, which speak languages in the Tai family and share similar traditions and festivals, including...
- O1a*
- O1a1 (M307.2/P203.2)
- O1a1*
- O1a1a (M101) Observed in one individual from ChinaChinaChinese civilization may refer to:* China for more general discussion of the country.* Chinese culture* Greater China, the transnational community of ethnic Chinese.* History of China* Sinosphere, the area historically affected by Chinese culture...
and another from Kota KinabaluKota KinabaluKota Kinabalu , formerly known as Jesselton, is the capital of Sabah state in East Malaysia. It is also the capital of the West Coast Division of Sabah. The city is located on the northwest coast of Borneo facing the South China Sea. The Tunku Abdul Rahman National Park lies on one side and Mount...
- O1a2 (M50, M103, M110) Occurs among Austronesian peoples of Taiwan, the Philippines, Indonesia, Melanesia, Micronesia, and Madagascar as well as among some populations of continental Southeast Asia