Haplogroup O3 (Y-DNA)
Encyclopedia
In human genetics
Human genetics
Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...

, Haplogroup O3 (M122) is a Y-chromosome haplogroup
Haplogroup
In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...

.

Origins

Haplogroup O3 is a descendant haplogroup of 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 ....

. Some researchers believe that it first appeared in China
China
Chinese 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...

 approximately 10,000 years ago, while others believe it to have had an origin in Southeast Asia
Southeast Asia
Southeast Asia, South-East Asia, South East Asia or Southeastern Asia is a subregion of Asia, consisting of the countries that are geographically south of China, east of India, west of New Guinea and north of Australia. The region lies on the intersection of geological plates, with heavy seismic...

 approximately 25,000-30,000 years ago. The prehistoric peopling of East Asia by modern humans remains controversial with respect to early population migrations. In a systematic sampling and genetic screening of an East Asian–specific Y-chromosome haplogroup (O3-M122) in 2,332 individuals from diverse East Asian populations, results indicate that the O3-M122 lineage is dominant in East Asian populations, with an average frequency of 44.3%. Microsatellite data show that the O3 haplotypes are more diverse in Southeast Asia than those in northern East Asia. This suggests a southern origin of the O3-M122 mutation to be likely.

Distribution

Although Haplogroup O3 appears to be primarily associated with Chinese
China
Chinese 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...

 populations, it also forms a significant component of the Y-chromosome diversity of most modern populations of the East Asian region.

Haplogroup O3 is found in over 50% of all modern Chinese
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...

 males (with frequency ranging from 30/101 = 29.7% among Pinghua-speaking Hans in Guangxi
Guangxi
Guangxi, formerly romanized Kwangsi, is a province of southern China along its border with Vietnam. In 1958, it became the Guangxi Zhuang Autonomous Region of the People's Republic of China, a region with special privileges created specifically for the Zhuang people.Guangxi's location, in...

 to 110/148 = 74.3% among Hans in Changting
Changting County
Changting , also known as Tingzhou or Tingchow, is a county in western Fujian province, the People's Republic of China. With a population of 480,000 and an area of 3,099 square kilometers, Changting is the fifth largest county in Fujian province...

, Fujian
Fujian
' , formerly romanised as Fukien or Huguing or Foukien, is a province on the southeast coast of mainland China. Fujian is bordered by Zhejiang to the north, Jiangxi to the west, and Guangdong to the south. Taiwan lies to the east, across the Taiwan Strait...

), about 40% of Manchu, Korean, and Vietnamese
Vietnamese people
The Vietnamese people are an ethnic group originating from present-day northern Vietnam and southern China. They are the majority ethnic group of Vietnam, comprising 86% of the population as of the 1999 census, and are officially known as Kinh to distinguish them from other ethnic groups in Vietnam...

 males, about 33.3% to 62% of Filipino
Filipino people
The Filipino people or Filipinos are an Austronesian ethnic group native to the islands of the Philippines. There are about 92 million Filipinos in the Philippines, and about 11 million living outside the Philippines ....

 males, about 10.5% to 55.6% of Malaysian males, about 10% (4/39 Guide County
Guide County
Guide County is a county of Qinghai Province, China. It is under the administration of Hainan Tibetan Autonomous Prefecture.-Economics:* Laxiwa Dam...

, Qinghai
Qinghai
Qinghai ; Oirat Mongolian: ; ; Salar:) is a province of the People's Republic of China, named after Qinghai Lake...

) to 45% (22/49 Zhongdian County, Yunnan
Yunnan
Yunnan is a province of the People's Republic of China, located in the far southwest of the country spanning approximately and with a population of 45.7 million . The capital of the province is Kunming. The province borders Burma, Laos, and Vietnam.Yunnan is situated in a mountainous area, with...

) of Tibetan
Tibetan people
The Tibetan people are an ethnic group that is native to Tibet, which is mostly in the People's Republic of China. They number 5.4 million and are the 10th largest ethnic group in the country. Significant Tibetan minorities also live in India, Nepal, and Bhutan...

 males, about 20% (10/50 Shuangbai, northern Yunnan
Yunnan
Yunnan is a province of the People's Republic of China, located in the far southwest of the country spanning approximately and with a population of 45.7 million . The capital of the province is Kunming. The province borders Burma, Laos, and Vietnam.Yunnan is situated in a mountainous area, with...

) to 44% (8/18 Xishuangbanna, southern Yunnan
Yunnan
Yunnan is a province of the People's Republic of China, located in the far southwest of the country spanning approximately and with a population of 45.7 million . The capital of the province is Kunming. The province borders Burma, Laos, and Vietnam.Yunnan is situated in a mountainous area, with...

) of Yi
Yi people
The Yi or Lolo people are an ethnic group in China, Vietnam, and Thailand. Numbering 8 million, they are the seventh largest of the 55 ethnic minority groups officially recognized by the People's Republic of China...

 males, about 25% of Zhuang and 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...

n males, and about 16% to 20% of Japanese
Japanese people
The are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries...

 males. The distribution of Haplogroup O3 stretches far into Central Asia (approx. 40% of Dungans, 30% of Salars, 28% of Bonan
Bonan
The Bonan people are an ethnic group living in Gansu and Qinghai provinces in northwestern China...

, 24% of Dongxiang
Dongxiang people
The Dongxiang people are one of 56 ethnic groups officially recognized by the People's Republic of China...

, 18% to 22.8% of Mongolians, 12% of Uyghurs
Uyghur people
The Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China...

, 9% of Kazakhs
Kazakhs
The Kazakhs are a Turkic people of the northern parts of Central Asia ....

, 6.2% of Altayans
Altay people
The Altay or Altai are an ethnic group of Turkic people living in the Siberian Altai Republic and Altai Krai and surrounding areas of Tuva and Mongolia. For alternative ethnonyms see also Teleut, Tele, Telengit, Mountain Kalmuck, White Kalmuck, Black Tatar, Oirat/Oirot.The Uriankhai people were...

, and 4.1% of Uzbeks
Uzbeks
The Uzbeks are a Turkic ethnic group in Central Asia. They comprise the majority population of Uzbekistan, and large populations can also be found in Afghanistan, Tajikstan, Kyrgyzstan, Turkmenistan, Kazakhstan, Russia, Pakistan, Mongolia and the Xinjiang Uyghur Autonomous Region of China...

) and Oceania (approx. 25% to 32.5% of Polynesia
Polynesia
Polynesia is a subregion of Oceania, made up of over 1,000 islands scattered over the central and southern Pacific Ocean. The indigenous people who inhabit the islands of Polynesia are termed Polynesians and they share many similar traits including language, culture and beliefs...

ns, 18% to 27.4% of Micronesia
Micronesia
Micronesia is a subregion of Oceania, comprising thousands of small islands in the western Pacific Ocean. It is distinct from Melanesia to the south, and Polynesia to the east. The Philippines lie to the west, and Indonesia to the southwest....

ns, and 5% of Melanesia
Melanesia
Melanesia is a subregion of Oceania extending from the western end of the Pacific Ocean to the Arafura Sea, and eastward to Fiji. The region comprises most of the islands immediately north and northeast of Australia...

ns), albeit with reduced frequencies of most subclades. It should be noted that Haplogroup O3*
* (haplogroup)
Paragroup is a term used in population genetics to describe lineages within a haplogroup that are not defined by any additional unique markers. In human Y-chromosome DNA haplogroups, paragroups are typically represented by an asterisk placed after the main haplogroup...

 Y-chromosomes, which are not defined by any identified downstream markers, are actually more common among certain non-Han Chinese
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 than among Han Chinese ones, and the presence of these O3* Y-chromosomes among various populations of Central Asia, East Asia, and Oceania is more likely to reflect a very ancient shared ancestry of these populations rather than the result of any historical events. It remains to be seen whether Haplogroup O3* Y-chromosomes can be parsed into distinct subclades that display significant geographical or ethnic correlations.

Haplogroup O3 is also found very frequently among populations of Northeast India (Garo
Garo (tribe)
See also Garo for other uses.The Garos are a tribal people in Meghalaya, India and neighboring areas of Bangladesh, who call themselves A·chik Mande or simply A·chik or Mande...

 42/71 = 59.2%, Khasi 112/353 = 31.7%) and Nepal
Nepal
Nepal , officially the Federal Democratic Republic of Nepal, is a landlocked sovereign state located in South Asia. It is located in the Himalayas and bordered to the north by the People's Republic of China, and to the south, east, and west by the Republic of India...

 (Tamang
Tamang
The Tamangs are the ancient and original inhabitants of the mountains and plains of the Himalayan regions of Nepal and India. Their ancient capital being Yambu - modern day Kathmandu. They have their own distinct culture, language and religion. Their ancestral domain is popularly known as...

 39/45 = 86.7%, Newar
Newar
The Newa , Newār or Newāl) are the indigenous people and the creators of the historical civilization of Nepal's Kathmandu Valley. The valley and surrounding territory have been known from ancient times as Nepal Mandala, its limits ever changing through history.Newas have lived in the Kathmandu...

 14/66 = 21.2%, general population of Kathmandu 16/77 = 20.8%).

Among all the populations of East and Southeast Asia, Haplogroup O3 is most closely associated with those that speak a Sinitic
Sinitic languages
The Sinitic languages, often called the Chinese languages or the Chinese language, are a language family frequently postulated as one of two primary branches of Sino-Tibetan...

, Tibeto-Burman
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 ....

, or Hmong–Mien language. Haplogroup O3 comprises about 50% or more of the total Y-chromosome variation among the populations of each of these language families. The Sinitic and Tibeto-Burman language families are generally believed to be derived from a common Sino-Tibetan
Sino-Tibetan languages
The Sino-Tibetan languages are a language family comprising, at least, the Chinese and the Tibeto-Burman languages, including some 250 languages of East Asia, Southeast Asia and parts of South Asia. They are second only to the Indo-European languages in terms of the number of native speakers...

 protolanguage, and most linguists place the homeland of the Sino-Tibetan language family somewhere in northern China. The Hmong–Mien languages and cultures, for various archaeological and ethnohistorical reasons, are also generally believed to have derived from a source somewhere north of their current distribution, perhaps in northern or central China. The Tibetans
Tibetan people
The Tibetan people are an ethnic group that is native to Tibet, which is mostly in the People's Republic of China. They number 5.4 million and are the 10th largest ethnic group in the country. Significant Tibetan minorities also live in India, Nepal, and Bhutan...

, however, despite the fact that they speak a language of the Tibeto-Burman language family, have high percentages of the otherwise rare haplogroups D1
Haplogroup D1 (Y-DNA)
In human genetics, Haplogroup D1 is a Y-chromosome DNA haplogroup. Haplogroup D1 is a descendant branch of the greater Haplogroup D.Its phylogenetically closest relatives are found among the peoples of Japan, Central Asia, and the Andaman Islands in the Bay of Bengal...

 and D3, which are also found at much lower frequencies among the members of some other ethnic groups in East Asia and Central Asia.

Haplogroup O3 has been implicated as a diagnostic genetic marker of the Austronesian expansion when it is found in populations of 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...

. Its distribution in Oceania is mostly limited to the traditionally Austronesian culture zones, including moderately high frequencies in 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...

, Malaysia, 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...

, and Polynesia
Polynesia
Polynesia is a subregion of Oceania, made up of over 1,000 islands scattered over the central and southern Pacific Ocean. The indigenous people who inhabit the islands of Polynesia are termed Polynesians and they share many similar traits including language, culture and beliefs...

, with generally lower frequencies found in coastal and island Melanesia
Melanesia
Melanesia is a subregion of Oceania extending from the western end of the Pacific Ocean to the Arafura Sea, and eastward to Fiji. The region comprises most of the islands immediately north and northeast of Australia...

, Micronesia
Micronesia
Micronesia is a subregion of Oceania, comprising thousands of small islands in the western Pacific Ocean. It is distinct from Melanesia to the south, and Polynesia to the east. The Philippines lie to the west, and Indonesia to the southwest....

, and Taiwanese aboriginal tribes
Taiwanese aborigines
Taiwanese aborigines is the term commonly applied in reference to the indigenous peoples of Taiwan. Although Taiwanese indigenous groups hold a variety of creation myths, recent research suggests their ancestors may have been living on the islands for approximately 8,000 years before major Han...

.

The subgroup O3a5-M134 is particularly closely associated with Sino-Tibetan
Sino-Tibetan languages
The Sino-Tibetan languages are a language family comprising, at least, the Chinese and the Tibeto-Burman languages, including some 250 languages of East Asia, Southeast Asia and parts of South Asia. They are second only to the Indo-European languages in terms of the number of native speakers...

 populations, and it is generally not found outside of areas where a Sino-Tibetan language is currently spoken or that are historically supposed to have undergone Chinese colonization or immigration, such as Korea
Korea
Korea ) is an East Asian geographic region that is currently divided into two separate sovereign states — North Korea and South Korea. Located on the Korean Peninsula, Korea is bordered by the People's Republic of China to the northwest, Russia to the northeast, and is separated from Japan to the...

, Japan
Japan
Japan is an island nation in East Asia. Located in the Pacific Ocean, it lies to the east of the Sea of Japan, China, North Korea, South Korea and Russia, stretching from the Sea of Okhotsk in the north to the East China Sea and Taiwan in the south...

, Vietnam
Vietnam
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 –...

, Malaysia, 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...

, and 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...

. However, its presence among non-Sino-Tibetan populations is always very limited and never amounts to more than 10% of the total Y-chromosome diversity. There are also reports that Y-chromosomes belonging to Haplogroup O3a5 have been sampled from populations of such far-flung places as Western Samoa. Surprisingly, Haplogroup O3a5-M134 Y-chromosomes have also been found in about 1% to 3% of indigenous Australian
Indigenous Australians
Indigenous Australians are the original inhabitants of the Australian continent and nearby islands. The Aboriginal Indigenous Australians migrated from the Indian continent around 75,000 to 100,000 years ago....

 men in the northwest of that continent, which might indicate that a certain degree of contact has occurred between the Austronesian expansion from Asia and some indigenous Australian populations. The fact that Haplogroup O3a5 is so strongly associated with Chinese populations, however, and the fact that no Y-chromosome haplogroups characteristic of Austronesian populations have been found among these indigenous Australian populations may be taken to suggest the possibility of some direct Chinese-Australian contact in the precolonial era. Within Japan, the subgroup O3a5-M134 forms the majority of the haplogroup O3 Y-chromosomes detected.

Haplogroup O3's brother clade, Haplogroup O1
Haplogroup O1 (Y-DNA)
In human genetics, Haplogroup O1 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 .-Origins:...

, displays a similar geographical distribution, being found among nearly all the populations of East and Southeast Asia, but generally at a frequency much lower than that of Haplogroup O3. Another brother clade, Haplogroup O2
Haplogroup O2 (Y-DNA)
In human genetics, Haplogroup O2 is a Y-chromosome DNA haplogroup.Haplogroup O2 is a descendent branch of the greater Haplogroup O.-Distribution:...

, has an impressive extent of dispersal, as it is found among the males of populations as widely separated as the Kolarians
Munda languages
-Anderson :Gregory Anderson's 1999 proposal is as follows. Individual languages are highlighted in italics.*North Munda **Korku**Kherwarian***Santhali***Mundari*South Munda **Kharia–Juang***Juang***Kharia...

 of India
India
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...

 and the Japanese
Japanese people
The are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries...

 of Japan
Japan
Japan is an island nation in East Asia. Located in the Pacific Ocean, it lies to the east of the Sea of Japan, China, North Korea, South Korea and Russia, stretching from the Sea of Okhotsk in the north to the East China Sea and Taiwan in the south...

; however, Haplogroup O2's distribution is much more patchy, and the Haplogroup O2 Y-chromosomes found among the Mundas and the Japanese belong to distinct subclades.

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