Haplogroup O M122

Origins

Most researchers believe that O-M122 first appeared in Southeast Asia approximately 25,000-30,000 years ago (Shi 2009). In a systematic sampling and genetic screening of an East Asian–specific Y-chromosome haplogroup (O-M122) in 2,332 individuals from diverse East Asian populations, results indicate that the O-M122 lineage is dominant in East Asian populations, with an average frequency of 44.3%. Microsatellite data show that the O-M122 haplotypes are more diverse in Southeast Asia than those in northern East Asia (Shi 2009). This suggests a southern origin of the O-M122 mutation to be likely.

It was also part of the settlement of East Asia. However, the prehistoric peopling of East Asia by modern humans remains controversial with respect to early population migrations and the place of the O-M122 lineage in these migrations is ambivalent.

Distribution

Although Haplogroup O-M122 appears to be primarily associated with Chinese people, it also forms a significant component of the Y-chromosome diversity of most modern populations of the East Asian region.

Haplogroup O-M122's brother clade, Haplogroup O-MSY2.2, 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 O-M122. Another brother clade, Haplogroup O-P31, has an impressive extent of dispersal, as it is found among the males of populations as widely separated as the Kolarians of India and the Japanese of Japan; however, Haplogroup O-P31's distribution is much more patchy, and the Haplogroup O-P31 Y-chromosomes found among the Mundas and the Japanese belong to distinct subclades.

East Asia

Haplogroup O-M122 is found in over 50% of all modern Han Chinese males (with frequency ranging from 30/101=29.7% among Pinghua-speaking Hans in Guangxi (Gan et al. 2008) to 110/148=74.3% among Hans in Changting, Fujian (Wen et al. 2004c)), about 40% of Manchu, Korean, and Vietnamese males, about 33.3% (Hammer et al. 2005) to 62% (Jin et al. 2009 and (Hurles et al. 2005)) of Filipino males, about 10.5% (Su et al. 2000) to 55.6% (Su et al. 2000) of Malaysian males, about 10% (4/39 Guide County, Qinghai) (Zhou et al. 2008) to 45% (22/49 Zhongdian County, Yunnan) (Wen et al. 2004) of Tibetan males, about 20% (10/50 Shuangbai, northern Yunnan) (Wen et al. 2004) to 44% (8/18 Xishuangbanna, southern Yunnan) (Wen et al. 2004) and (Karafet et al. 2001) of Yi males, about 25% of Zhuang (Jing et al. 2006) and Indonesian (HuiLi et al. 2008) males, and about 16% (Katoh et al. 2004) and (Nonaka et al. 2007) to 20% (Hammer et al. 2005) of Japanese males. The distribution of Haplogroup O-M122 stretches far into Asia (approx. 40% of Dungans (Wells et al. 2001), 30% of Salars (WeiWang et al. 2003), 28% of Bonan (WeiWang 2003), 24% of Dongxiang (WeiWang et al. 2003), 18% to 22.8% of Mongolians (Hammer et al. 2005), 12% of Uyghurs (Wells et al. 2001), 9% of Kazakhs (Wells et al. 2001), 6.2% of Altaians (Kharkov et al. 2007), and 4.1% of Uzbeks (Wells et al. 2001).

South Asia

Haplogroup O-M122 is restricted among tribal groups of Northeast India where it is found at very high frequencies. In Arunachal Pradesh, it is found at 89% among Adi, 82% among Apatani and 94% among Nishi while the Naga people show it is at 76%. Cordaux 2004. In Meghalaya, Garos are at 59.2%(42/71) (Reddy 2007) while Khasis at 31.7%(112/353) (Reddy 2007). In Nepal, Tamang people present a very high 86.7%(39/45) while Newar shows at 21.2%(14/66). Among the general population of Kathmandu, 20%(16/77) (Gayden 2007) were found to be O-M122 positive.

Southeast Asia

Among all the populations of East and Southeast Asia, Haplogroup O-M122 is most closely associated with those that speak a Sinitic, Tibeto-Burman, or Hmong–Mien language. Haplogroup O-M122 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 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, however, despite the fact that they speak a language of the Tibeto-Burman language family, have high percentages of the otherwise rare haplogroups D-M15 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 O-M122 has been implicated as a diagnostic genetic marker of the Austronesian expansion when it is found in populations of insular Southeast Asia and Oceania. It appears at moderately high frequencies in the Philippines, Malaysia, and Indonesia. Its distribution in Oceania is mostly limited to the traditionally Austronesian culture zones, chiefly Polynesia (approx. 25% (Hammer 2005) to 32.5% (Su 2000)). O-M122 is found at generally lower frequencies in coastal and island Melanesia, Micronesia, and Taiwanese aboriginal tribes (18% (Hammer 2005) to 27.4% (Su 2000) of Micronesians, and 5% of Melanesians (Karafet 2005), albeit with reduced frequencies of most subclades.

It should be noted that Haplogroup O-M122* Y-chromosomes, which are not defined by any identified downstream markers, are actually more common among certain non-Han Chinese populations than among Han Chinese ones, and the presence of these O-M122* 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 O-M122* Y-chromosomes can be parsed into distinct subclades that display significant geographical or ethnic correlations.

Paragroup O-M122*

Paragroup O3*-M122(xO3a-P197) Y-DNA is quite rare, having been detected only in 2/165 = 1.2% of a sample of Han Chinese in a pool of samples from mainland China, Taiwan, the Philippines, Vietnam, and Malaysia (n=581), 8/641 = 1.2% of a sample of Balinese in a pool of samples from western Indonesia (n=960), and 7/350 = 2.0% of a sample of males from Sumba in a pool of samples from eastern Indonesia (n=957). In the same study, O3*-M122(xO3a-P197) Y-DNA was not observed in a pool of samples from Oceania (n=182) (Karafet 2010).

A paper published by a group of mainly Chinese geneticists in the American Journal of Human Genetics in 2005 reported the detection of O3*-M122(xO3a-M324) Y-DNA in 1.6% (8/488) of a pool of seven samples of Han Chinese (3/64 = 4.7% Sichuan, 2/98 = 2.0% Zibo, Shandong, 1/60 = 1.7% Inner Mongolia, 1/81 = 1.2% Yunnan, 1/86 = 1.2% Laizhou, Shandong, 0/39 Guangxi, 0/60 Gansu). O3*-M122(xO3a-M324) Y-DNA also was detected in the following samples of ethnic minorities in China: 5.9% (1/17) Jingpo from Yunnan, 4.3% (2/47) Zhuang from Yunnan, 4.1% (2/49) Lisu from Yunnan, 3.2% (1/31) Wa from Yunnan, 2.6% (1/39) Zhuang from Guangxi, 2.5% (2/80) Bai from Yunnan, 2.4% (1/41) Hani from Yunnan, 2.3% (2/88) Lahu from Yunnan, 2.1% (1/47) Yi from Yunnan, 2.1% (1/48) Miao from Yunnan, 1.5% (2/132) Dai from Yunnan, 1.0% (1/105) Miao from Hunan, and 0.9% (2/225) Yao from Guangxi.

O3*-M122(xO3a-M324) Y-DNA has been found as a singleton (1/156 = 0.6%) in a sample from Tibet.(Gayden 2007)

In a paper published in 2011, Korean researchers have reported finding O3*-M122(xO3a-M324) Y-DNA in the following samples: 5.9% (3/51) Beijing Han, 3.1% (2/64) Filipino, 2.1% (1/48) Vietnamese, 1.7% (1/60) Yunnan Han, 0.4% (2/506) Korean.

In 2011, Chinese researchers published a paper reporting their finding of O3*-M122(xO3a-M324) Y-DNA in 3.0% (5/167) of a sample of Han Chinese with origins in East China (defined as consisting of Jiangsu, Zhejiang, Shanghai, and Anhui) and in 1.5% (1/65) of a sample of Han Chinese with origins in Southern China. O3* Y-DNA was not detected in their sample of Han Chinese with origins in Northern China (n=129).

In a paper published in 2012, O3*-M122(xO3a-P200) Y-DNA was found in 12% (3/25) of a sample of Lao males from Luang Prabang, Laos. O3* Y-DNA was not detected in this study's samples of Cham from Binh Thuan, Vietnam (n=59), Kinh from Hanoi, Vietnam (n=76), or Thai from northern Thailand (n=17).(He 2012)

O-M324

O-M121

O3a1a-M121 is a subclade of O3a1-L127.1, parallel to O3a1b-M164 and O3a1c-JST002611.

In an early survey of Y-DNA variation in present-day human populations of the world, O-M121 was detected only in 5.6% (1/18) of a sample from Cambodia and Laos and in 5.0% (1/20) of a sample from China.

In a large study of 2,332 unrelated male samples collected from 40 populations in East Asia (and especially Southwest China), O-M121/DYS257 Y-DNA was detected only in 7.1% (1/14) of a sample of Cambodians and in 1.0% (1/98) of a sample of Han Chinese from Zibo, Shandong.

In a study published in 2011, O-M121 Y-DNA was found in 1.2% (2/167) of a sample of Han Chinese with origins in East China, defined as consisting of Jiangsu, Anhui, Zhejiang, and Shanghai, and in 0.8% (1/129) of a sample of Han Chinese with origins in Northern China. O-M121 was not detected in this study's sample of Han Chinese with origins in Southern China (n=65).(Yan 2011)

O-M164

O3a1b-M164 is a subclade of O3a1-L127.1, parallel to O3a1a-M121 and O3a1c-JST002611.

In an early survey of Y-DNA variation in present-day human populations of the world, O-M164 was detected only in 5.6% (1/18) of a sample from Cambodia and Laos.

In a large study of 2,332 unrelated male samples collected from 40 populations in East Asia (and especially Southwest China), O3a1b-M164 Y-DNA was detected only in 7.1% (1/14) of a sample of Cambodians.

O-JST002611

Haplogroup O3a1c-JST002611 is derived from O3-M122 via O3a-M324/P93/P197/P199/P200 and O3a1-L127.1/L465/L467. O3a1c-JST002611 is the most commonly observed type of O3a1 Y-DNA, and, more generally, represents the majority of extant O3-M122 Y-DNA that does not belong to the expansive subclade O3a2-P201.

Haplogroup O3a1c-JST002611 was first identified in 3.8% (10/263) of a sample of Japanese (Nonaka et al. 2007). Subsequently, this haplogroup has been found with higher frequency in some samples taken in and around China, including 12/58 = 20.7% Miao (China), 10/70 = 14.3% Vietnam, 18/165 = 10.9% Han (China & Taiwan), 4/49 = 8.2% Tujia (China) (Karafet 2010). O-002611 also has been found in a singleton from the Philippines (1/48 = 2.1%), but it has not been detected in samples from Malaysia (0/32), Taiwanese Aboriginals (0/48), She from China (0/51), Yao from China (0/60), Oceania (0/182), eastern Indonesia (0/957), or western Indonesia (0/960) (Karafet 2010).Haplogroup O3a1c‐002611 is prevalent in different ethnic groups in China and Southeast Asia, including Vietnam (14.29%), Sichuan of southwestern China (Han, 14.60%; Tibetan in Xinlong County, 15.22%), Jilin of northeastern China (Korean, 9.36%), Inner Mongolia(Mongolian, 6.58%), and Gansu of northwestern China(Baima, 7.35%; Han, 11.30%).

O-P201

O3a2-JST021354/P201 is a subclade of O3a that includes the most common types of O3-M122 Y-DNA. This clade includes the major subclades O3a2c1-M134 (subclade of O-P164) and O3a2b-M7, which exhibit expansive distributions centered on China, as well as an assortment of Y-chromosomes that have not yet been assigned to any subclade.

O3a2-P201(xO3a2b-M7, O3a2c1-M134) Y-DNA has been detected with high frequency in many samples of Austronesian-speaking populations, in particular some samples of Batak Toba from Sumatra (21/38 = 55.3%), Tongans (5/12 = 41.7%), and Filipinos (12/48 = 25.0%). (Karafet 2010) Outside of Austronesia, O3a2-P201(xO3a2b-M7, O3a2c1-M134) Y-DNA has been observed in samples of Tujia (7/49 = 14.3%), Han Chinese (14/165 = 8.5%), Japanese (11/263 = 4.2%), Miao (1/58 = 1.7%), and Vietnam (1/70 = 1.4%) (Karafet 2010 and Nonaka 2007).

O-M159

O3a2a-M159 is a subclade of O3a2-P201. In an early survey of Y-DNA variation in present-day human populations of the world, O-M159 was detected only in 5.0% (1/20) of a sample from China.

Unlike its phylogenetic siblings, O-M7 and O-M134, O-M159 is very rare, having been found only in 2.9% (1/35) of a sample of Han males from Meixian, Guangdong in a study of 988 males from East Asia.(Xue 2006)

In a study published in 2011, O-M159 was detected in 1.5% (1/65) of a sample of Han Chinese with origins in Southern China. O-M159 was not detected in the same study's samples of Han Chinese with origins in East China (n=167) or Northern China (n=129).(Yan 2011)

O-M7

Haplogroup O3a2b-M7 Y-DNA has been detected with high frequency in some samples of populations who speak Hmong-Mien languages, Katuic languages, or Bahnaric languages, scattered through some mostly mountainous areas of southern China, Laos, and Vietnam (Cai 2010).

O-M7 has been noted for having a widespread but uneven distribution among populations that speak Hmong-Mien languages, such as She (29/51 = 56.9% She, 10/34 = 29.4% She, 14/56 = 25.0% Northern She from Zhejiang), Miao (21/58 = 36.2% Miao from China, 17/51 = 33.3% Hmong Daw from northern Laos, 6/49 = 12.2% Yunnan Miao, 2/49 = 4.1% Guizhou Miao, 4/100 = 4.0% Hunan Miao), and Yao (18/35 = 51.4% Yao from Liannan, Guangdong, 29/60 = 48.3% Yao from Guangxi, 12/35 = 34.3% Yao from Bama, Guangxi, 12/37 = 32.4% Zaomin from Guangdong, 5/36 = 13.9% Bunu from Guangxi, 1/11 = 9.1% Top-Board Mien, 3/41 = 7.3% Native Mien, 2/31 = 6.5% Southern Mien from Guangxi, 1/19 = 5.3% Flowery-Headed Mien from Guangxi, 1/20 = 5.0% Mountain Straggler Mien from Hunan, 1/28 = 3.6% Blue Kimmun from Guangxi, 1/31 = 3.2% Pahng from Guangxi, 1/47 = 2.1% Western Mien from Yunnan, 0/11 Thin Board Mien, 0/31 Lowland Yao from Guangxi, 0/32 Mountain Kimmun from Yunnan, 0/33 Northern Mien, and 0/41 Lowland Kimmun from Guangxi). (Cai 2010)(Karafet 2010)(Xue 2006)

Cai et al. 2010 have reported finding high frequencies of O-M7 in their samples of Katuic (17/35 = 48.6% Ngeq, 10/45 = 22.2% Katu, 6/37 = 16.2% Kataang, 3/34 = 8.8% Inh (Ir), 4/50 = 8.0% So, 1/39 = 2.6% Suy) and Bahnaric (15/32 = 46.9% Jeh, 17/50 = 34.0% Oy, 8/32 = 25.0% Brau, 8/35 = 22.9% Talieng, 4/30 = 13.3% Alak, 6/50 = 12.0% Laven) peoples from southern Laos. Among the sampled Katuic peoples, the speakers of West Katuic (Kuy-Bru), such as the So and the Suy, have lower frequencies of O-M7 than the Katu proper and the speakers of the Ta'Oi dialect chain (Ngeq, Kataang, Ir). However, O-M7 has been found only with low frequency in samples of linguistically related Khmuic populations from northern Laos (1/50 = 2.0% Mal, 1/51 = 2.0% Khmu, 0/28 Bit, 0/29 Xinhmul), Vietic peoples from Vietnam and central Laos (8/76 = 10.5% Kinh from Hanoi, Vietnam, 2/28 = 7.1% Bo, 4/70 = 5.7% Vietnamese, 0/12 Muong, 0/15 Kinh, 0/38 Aheu), Palaungic peoples from northwestern Laos and southwestern Yunnan (2/35 = 5.7% Lamet, 0/29 Ava, 0/52 Blang), and Pakanic peoples from southeastern Yunnan and northwestern Guangxi (0/30 Palyu, 0/32 Bugan).(Cai 2010)(Karafet 2010)(He 2012)

Haplogroup O-M7 has been found with notable frequency in some samples of Austronesian populations from the central part of the Malay Archipelago (17/86 = 19.8% Indonesians from Borneo, 4/32 = 12.5% Malaysia, 7/61 = 11.5% Java (mostly sampled in Dieng)), but the frequency of this haplogroup appears to drop off very quickly toward the east (1/48 = 2.1% Philippines, 5/641 = 0.8% Balinese, 0/48 Taiwanese Aboriginals) and west (0/38 Batak Toba from Sumatra, 0/60 Nias, 0/74 Mentawai). (Karafet 2010) O-M7 has been found in 5.1% (3/59) of a sample of the Austronesian-speaking Cham people from Binh Thuan, Vietnam. (He 2012)

In the northern fringes of its distribution, O-M7 has been found in samples of Oroqen (2/31 = 6.5%), Tujia from Hunan (3/49 = 6.1%), Qiang (2/33 = 6.1%), and Han Chinese (3/165 = 1.8% Han Chinese, or 2/32 = 6.3% Han from Yili, Xinjiang, 4/66 = 6.1% Han from Huize, Yunnan, 2/35 = 5.7% Han from Meixian, Guangdong, 1/18 = 5.6% Han from Wuhan, Hubei, 6/148 = 4.1% Han from Changting, Fujian, 2/63 = 3.2% Han from Weicheng, Sichuan, 2/100 = 2.0% Han from Nanjing, Jiangsu, 1/55 = 1.8% Han from Shanghai).(Wen 2004)(Xue 2006)(Karafet 2010)

O-M134

O-M134*

Paragroup O-M134(xM117) has been found with very high frequency in some samples of Kim Mun people, a subgroup of the Yao people of southern China (16/32 = 50.0% Mountain Kimmun from southern Yunnan, 11/28 = 39.3% Blue Kimmun from western Guangxi). However, this paragroup has been detected in only 3/41 = 7.3% of a sample of Lowland Kimmun from eastern Guangxi (Cai et al. 2011). This paragroup also has been found with high frequency in some Kazakh samples, especially the Naiman tribe(Dulik et al. 2011 and Lu et al. 2011) Dulik hypothesizes that O-M134 in Kazakhs was due to a later expansion due to its much more recent TMRCA time.

The general outline of the distribution of O-M134(xM117) among modern populations is different as that of the related clade O-M117. In particular, O-M134(xM117) occurs with only low frequency or is nonexistent among most Tibeto-Burman-speaking populations of Southwest China, Northeast India, and Nepal, who exhibit extremely high frequencies of O-M117. This paragroup also occurs with very low frequency or is non-existent among most Mon-Khmer population of Laos, who exhibit much higher frequencies of O-M117 (Cai et al. 2011). In Han Chinese, the paragroup is found in approximately the same percentage as O-M117, but has a higher distribution in northern Han Chinese than Southern Han Chinese (Yan et al. 2012).

O-M117

Haplogroup O3a2c1a-M117 (also defined by the phylogenetically equivalent mutations M133 and Page23) is a subclade of O3a2c1-M134 that occurs frequently in China and in neighboring countries, especially among Tibeto-Burman-speaking peoples.

O-M117 has been detected in samples of Tamang (38/45 = 84.4%), Han Chinese in Quanzhou of Fujian Province in China (44/109 = 40.3%)， Tibetans (45/156 = 28.8% or 13/35 = 37.1%), Tharus (57/171 = 33.3%), Han Taiwanese (40/183 = 21.9%), Newars (14/66 = 21.2%), the general population of Kathmandu, Nepal (13/77 = 16.9%), Han Chinese (5/34 = 14.7% Chengdu, 5/35 = 14.3% Harbin, 4/35 = 11.4% Meixian, 3/30 = 10.0% Lanzhou, 2/32 = 6.3% Yili), Tungusic peoples from the PRC (7/45 = 15.6% Hezhe, 4/26 = 15.4% Ewenki, 5/35 = 14.3% Manchu, 2/41 = 4.9% Xibe, 1/31 = 3.2% Oroqen), Koreans (4/25 = 16.0% Koreans from the PRC, 5/43 = 11.6% Koreans from South Korea), Mongols (5/45 = 11.1% Inner Mongolian, 3/39 = 7.7% Daur, 3/65 = 4.6% Outer Mongolian), and Uyghurs (2/39 = 5.1% Yili, 1/31 = 3.2% Urumqi) (Xue et al. 2006, Gayden et al. 2007, and Fornarino et al. 2009).

Like O-M7, O-M117 has been found with greatly varying frequency in many samples of Hmong-Mien-speaking peoples, such as Mienic peoples (7/20 = 35.0% Mountain Straggler Mien, 9/28 = 32.1% Blue Kimmun, 6/19 = 31.6% Flower Head Mien, 3/11 = 27.3% Top Board Mien, 3/11 = 27.3% Thin Board Mien, 11/47 = 23.4% Western Mien, 6/33 = 18.2% Northern Mien, 5/31 = 16.1% Lowland Yao, 5/35 = 14.3% Yao from Liannan, Guangdong, 5/37 = 13.5% Zaomin, 5/41 = 12.2% Lowland Kimmun, 3/41 = 7.3% Native Mien, 2/31 = 6.5% Southern Mien, 2/32 = 6.3% Mountain Kimmun, but 0/35 Yao from Bama, Guangxi), She (6/34 = 17.6% She, 4/56 = 7.1% Northern She), and Hmongic peoples (9/100 = 9.0% Miao from Hunan, 4/51 = 7.8% Hmong Daw from northern Laos, 3/49 = 6.1% Miao from Yunnan, 1/49 = 2.0% Miao from Guizhou, but 0/36 Bunu from Guangxi) (Cai et al. 2011 and Xue et al. 2006).

In a study published by Chinese researchers in the year 2006, O-M117 was found with high frequency (8/47 = 17.0%) in a sample of Japanese of undescribed geographical origin (Xue et al. 2006). However, in a study published by Japanese researchers in the year 2007, the same haplogroup was found with much lower frequency (11/263 = 4.2%) in a larger sample of Japanese from various regions of Japan (Nonaka et al. 2007).

In Meghalaya, a predominantly tribal state of Northeast India, O-M133 has been found in 19.7% (14/71) of a sample of the Tibeto-Burman-speaking Garos, but in only 6.2% (22/353, ranging from 0/32 Bhoi to 6/44 = 13.6% Pnar) of a pool of eight samples of the neighboring Khasian-speaking tribes (Reddy et al. 2007).

Phylogenetic History

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

Original Research Publications

The following research teams per their publications were represented in the creation of the YCC Tree.

Phylogenetic Trees

This phylogenetic tree of haplogroup O subclades is based on the YCC 2008 tree (Karafet 2008) and subsequent published research.