Haplogroup O-M122

Haplogroup O-M122

Isofrequency map portraying spatial distribution of Haplogroup O-M122 in Asia and Oceania as per (Kumar 2007). The dots indicate the populations and the regions from where it was sampled.
Possible time of origin About 30,000 years ago (Shi 2009)

35,000 (with slower average mutation rate) or 30,000 (with faster average mutation rate) years ago[1]

31,200 [95% CI 29,400 <-> 33,100] years before present[2]
Possible place of origin China (GenographicProject 2005) or Southeast Asia (Shi 2009)
Coalescence age 28,400 [95% CI 26,000 <-> 30,900] years before present[2]
Ancestor O-M175
Defining mutations M122 (Krahn and FTDNA 2013)

In human population genetics, haplogroups define the major lineages of direct paternal (male) lines back to a shared common ancestor in Africa. Haplogroup O-M122 is an Eastern Eurasian Y-chromosome haplogroup. The lineage ranges across Southeast Asia and East Asia, where it dominates the paternal lineages with extremely high frequencies.

This lineage is a descendant haplogroup of haplogroup O-M175.

Origins

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.

Population Frequency n Source SNPs
Derung1Shi 2009 
Nishi0.94Cordaux 2004 
Adi0.89Cordaux 2004 
Tamang0.86745Gayden 2007M134
Nu0.86Wen 2004 
Yao (Liannan)0.82935Xue 2006M7=18
M117=5
M122(xM159, M7, M134)=4
M134(xM117)=2
Achang0.825Shi 2009 
Apatani0.82Cordaux 2004 
Bai0.82Shi 2009 
Naga0.76Cordaux 2004 
Ava (Yunnan)0.75929Cai 2011M122
Han Chinese0.74Wen 2004 
She0.73534Xue 2006M7=10
M122(xM159, M7, M134)=7
M117=6
M134(xM117)=2
Nu0.7Shi 2009 
Miao0.7Karafet 2001 
Shui0.7Shi 2009 
Han (Harbin)0.65735Xue 2006M122(xM159, M7, M134)=10
M134(xM117)=8
M117=5
Lisu0.65Wen 2004 
Zaomin (Guangdong)0.64937Cai 2011M122
She0.63Karafet 2001 
Filipinos0.62Jin 2009 
Taiwan Han0.61921Tajima 2004M122
Philippines0.60728Hurles 2005M122
Han (East China)0.593167Yan 2011M122
Garo0.59Reddy 2007 
Han (North China)0.566129Yan 2011M122
Toba (Sumatra)0.55338Karafet 2010P201(xM7, M134)
Northern Han0.55149Tajima 2004M122
Garo0.55Kumar 2007 
Tujia0.54Shi 2009 
Tujia0.53Karafet 2001 
Han (Chengdu)0.52934Xue 2006M122(xM159, M7, M134)=8
M134(xM117)=5
M117=5
Han (NE China)0.52442Katoh 2005M122
Han (Meixian)0.51435Xue 2006M122(xM159, M7, M134)=10
M117=4
M7=2
M159=1
M134(xM117)=1
Han (South China)0.49265Yan 2011M122
Va0.48Shi 2009 
Bai0.48Shi 2009
Wen 2004
 
Koreans0.472216Kim 2007 
Lisu0.47Shi 2009 
Hani0.47Wen 2004 
Han (Yili)0.46932Xue 2006M122(xM159, M7, M134)=10
M7=2
M117=2
M134(xM117)=1
Bai (Dali, Yunnan)0.4650Wen 2004M122
Hezhe (China)0.44445Xue 2005M122(xM159, M7, M134)=11
M134(xM117)=2
M117=7
Koreans0.443506Kim 2011P201=146
M324(xP201)=76
M122(xM324)=2
Tibetans
(Zhongdian, Yunnan)
0.44050Wen 2004M122
Miao0.44Shi 2009 
Yi0.44Wen 2004 
Lahu0.43Shi 2009 
Bit (Laos)0.42928Cai 2011M122
Manchu (NE China)0.426101Katoh 2005M122
Koreans (Seoul)0.422573Park 2012M122
Koreans (Daejeon)0.414133Park 2012M122
Hmong Daw (Laos)0.41251Cai 2011M122
Vietnamese0.41Karafet 2001 
Dai0.4Yang 2005 
Dungan (Kyrgyzstan)0.4040Wells 2001M122
Tibetans0.40035Xue 2006M117=13
M134(xM117)=1
Koreans (China)0.40025Xue 2006M122(xM159, M7, M134)=6
M117=4
Koreans (South Korea)0.39543Xue 2006M122(xM159, M7, M134)=7
M134(xM117)=5
M117=5
Vietnamese0.39Jin 2009 
Blang (Yunnan)0.38552Cai 2011M122
Manchu0.38Karafet 2001 
Philippine
(Tagalog language group)
0.38050Tajima 2004M122
Manchu0.37135Xue 2006M122(xM159, M7, M134)=6
M117=5
M134(xM117)=2
Han (Lanzhou)0.36730Xue 2006M122(xM159, M7, M134)=6
M117=3
M134(xM117)=2
Lahu0.36Wen 2004 
Qiang0.36433Xue 2006M134(xM117)=4
M117=3
M122(xM159, M7, M134)=3
M7=2
Borneo, Indonesia0.3686Karafet 2010M122
Korean0.35645Wells 2001M122
Pahng (Guangxi)0.35531Cai 2011M122
Philippines0.35448Karafet 2010M122
Western Yugur0.35Zhou 2008 
Thai
(Chiang Mai & Khon Kaen)
0.35334Shi 2009
Tajima 2004
M122
Tharu0.345171Fornarino 2009M134
Kinh (Hanoi, Vietnam)0.34276He 2012M122
Koreans (Seoul)0.34185Katoh 2005M122
Tibet0.340156Gayden 2007M122
Yao (Bama)0.34335Xue 2006M7=12
Kazakhs (SE Altai)0.33789Dulik 2011M134(xM117, P101)
Polynesians0.325Su 2000 
Tibetans0.32Wen 2004 
Khasi0.32Reddy 2007 
Lao
(Luang Prabang, Laos)
0.3225He 2012M122
Eastern Yugur0.31Zhou 2008 
Malays0.31Karafet 2001 
Buyei0.31435Xue 2006M7=6
M134(xM117)=3
M117=1
M122(xM159, M7, M134)=1
Han (Pinghua speakers)0.3Gan 2008 
Salar0.3WeiWang 2003 
Koreans (NE China)0.29179Katoh 2005M122
Khasi0.29Kumar 2007 
Zhuang0.29Su 2000 
Inner Mongolian0.28945Xue 2006M122(xM159, M7, M134)=5
M117=5
M134(xM117)=3
Bonan0.28WeiWang 2003 
Sibe0.26841Xue 2006M134(xM117)=5
M122(xM159, M7, M134)=4
M117=2
Micronesia0.27Su 2000 
Daur0.25639Xue 2005M122(xM159, M7, M134)=7
M117=3
Polynesians0.25Hammer 2005
Kayser 2006
 
Bunu (Guangxi)0.2536Cai 2011M122
Malay
(near Kuala Lumpur)
0.2512Tajima 2004M122
Japanese (Kyūshū)0.240104Tajima 2004M122
Dongxiang0.24WeiWang 2003 
Manchurian Evenks0.24Karafet 2001 
Thai (Northern Thailand)0.23517He 2012M122
Japanese0.23447Xue 2006M117=8
M134(xM117)=2
M122(xM159, M7, M134)=1
Mosuo (Ninglang, Yunnan)0.23447Wen 2004M122
Evenks (China)0.23126Xue 2005M117=4
M134(xM117)=1
M122(xM159, M7, M134)=1
Mongolia
(mainly Khalkhs[3])
0.228149Hammer 2006M134=24
M122(xM134)=10
Khmers0.22Black 2006 
Mal (Laos)0.2250Cai 2011M122
Japanese (Tokushima)0.21470Hammer 2005M122
Newar0.21266Gayden 2007M117
Blang0.21Shi 2009 
Okinawans0.21Nonaka 2007 
Kathmandu, Nepal0.20877Gayden 2007M324
Sui0.2Xie 2004 
Yi (Shuangbai, Yunnan)0.2050Wen 2004M122(xM7)
Japanese (Shizuoka)0.19761Hammer 2005M122
Khmu (Laos)0.19651Cai 2011M122
Oroqen0.19431Xue 2006M122(xM159, M7, M134)=2
M7=2
M134(xM117)=1
M117=1
Khalkh (Mongolia)0.18885Katoh 2005M122
Hani0.17634Xue 2006M134(xM117)=3
M117=2
M122(xM159, M7, M134)=1
Micronesia0.18Hammer 2005 
Japanese (Tokyo)0.17956Poznik 2016M122
Hui0.17135Xue 2006M122(xM159, M7, M134)=4
M134(xM117)=1
M117=1
Japanese0.167263Nonaka 2007M122
Mandar (Sulawesi)0.16754Karafet 2010M122
Japanese (Kantō)0.162117Katoh 2005M122
Thai0.16Jin 2009 
Zhuang0.16Karafet 2001 
Aheu (Laos)0.15838Cai 2011M122
Bugan (Yunnan)0.15632Cai 2011M122
Okinawans0.15645Hammer 2005M122(xM134)=6
M134=1
Uygur (Yili)0.15439Xue 2006M122(xM159, M7, M134)=2
M134(xM117)=2
M117=2
Japanese (Aomori)0.15426Hammer 2005M122
Cambodia0.14Shi 2009 
Cham
(Binh Thuan, Vietnam)
0.13659He 2012M122
Java
(mainly sampled in Dieng)
0.13161Karafet 2010M122
Aboriginal Taiwanese0.126223Tajima 2004M122
Uighur (Kazakhstan)0.12241Wells 2001M122
Uzbek (Bukhara)0.12158Wells 2001M122
Karakalpak (Uzbekistan)0.11444Wells 2001M122
Outer Mongolian0.10865Xue 2006M122(xM159, M7, M134)=3
M117=3
M134(xM117)=1
Bo (Laos)0.10728Cai 2011M122
Tibetans0.1Zhou 2008 
Maluku Islands0.130Karafet 2010M122
Kazakh (Kazakhstan)0.09354Wells 2001M122
Pumi (Ninglang, Yunnan)0.08547Wen 2004M122(xM7)
Zakhchin (Mongolia)0.08360Katoh 2005M122
Mongols0.08324Wells 2001M122
Balinese (Bali)0.073641Karafet 2010M122
Japanese0.06859Ochiai 2016P198
Uriankhai (Mongolia)0.06760Katoh 2005M122
Sinte (Uzbekistan)0.06715Wells 2001M122
Uygur (Urumqi)0.06531Xue 2006M134(xM117)=1
M117=1
Iranian (Esfahan)0.06316Wells 2001M122
Flores0.046394Karafet 2010M122
Buyei0.04Yang 2005 
Kazakhs (SW Altai)0.03330Dulik 2011M134(xM117, P101)
Burusho0.03197Firasat 2007M122
Li0.02934Xue 2006M134(xM117)=1
Sumba0.029350Karafet 2010M122
Khoton (Mongolia)0.02540Katoh 2005M122
Naxi (Lijiang, Yunnan)0.02540Wen 2004M134
Pathan0.01096Firasat 2007M122
Pakistan0.005638Firasat 2007M122

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. 2005) 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 at 76% (Cordaux 2004). In Meghalaya, 59.2% (42/71) of a sample of Garos and 31.7% (112/353) of a sample of Khasis have been found to belong to O-M122 (Reddy 2007). In Nepal, Tamang people present a very high frequency of O-M122 (39/45 = 86.7%), while much lower percentages of Newar (14/66 = 21.2%) and the general population of Kathmandu (16/77 = 20.8%) belong to this haplogroup (Gayden 2007). A study published in 2009 found O-M122 in 52.6% (30/57, including 28 members of O-M117 and two members of O-M134(xM117)) of a sample of Tharus from a village in Chitwan District of south-central Nepal, 28.6% (22/77, all O-M117) of a sample of Tharus from another village in Chitwan District, and 18.9% (7/37, all O-M117) of a sample of Tharus from a village in Morang District of southeastern Nepal.[4] In contrast, the same study found O-M122 in only one individual in a sample of non-Tharu Hindus collected in Chitwan District (1/26 = 3.8% O-M134(xM117)), one tribal individual from Andhra Pradesh, India (1/29 = 3.4% O-M117), and one individual in a sample of Hindus from New Delhi, India (1/49 = 2.0% O-M122(xM134)).[4]

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.

Subclade Distribution

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.[5]

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.[6]

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.[7]

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.[5]

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.[7]

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.[5]

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%),[8] Jilin of northeastern China (Korean, 9.36%), Inner Mongolia (Mongolian, 6.58%), and Gansu of northwestern China (Baima, 7.35%; Han, 11.30%).[9] Y-DNA belonging to haplogroup O-JST002611 has been observed in 10.6% (61/573) of a sample collected in Seoul and 8.3% (11/133) of a sample collected in Daejeon, South Korea.[10][11]

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.[7]

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

Projected spatial frequency distribution for haplogroup O3-M7.[12]

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 mutation 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).

O-M333

Phylogenetics

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.

YCC 2002/2008 (Shorthand) (α) (β) (γ) (δ) (ε) (ζ) (η) YCC 2002 (Longhand) YCC 2005 (Longhand) YCC 2008 (Longhand) YCC 2010r (Longhand) ISOGG 2006 ISOGG 2007 ISOGG 2008 ISOGG 2009 ISOGG 2010 ISOGG 2011 ISOGG 2012
O-M17526VII1U28Eu16H9IO*OOOOOOOOOO
O-M11926VII1U32Eu16H9HO1*O1aO1aO1aO1aO1aO1aO1aO1aO1aO1a
O-M10126VII1U32Eu16H9HO1aO1a1O1a1aO1a1aO1a1O1a1O1a1aO1a1aO1a1aO1a1aO1a1a
O-M5026VII1U32Eu16H10HO1bO1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2O1a2
O-P3126VII1U33Eu16H5IO2*O2O2O2O2O2O2O2O2O2O2
O-M9526VII1U34Eu16H11GO2a*O2aO2aO2aO2aO2aO2aO2aO2aO2a1O2a1
O-M8826VII1U34Eu16H12GO2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1O2a1aO2a1a
O-SRY46520VII1U35Eu16H5IO2b*O2bO2bO2bO2bO2bO2bO2bO2bO2bO2b
O-47z5VII1U26Eu16H5IO2b1O2b1aO2b1O2b1O2b1aO2b1aO2b1O2b1O2b1O2b1O2b1
O-M12226VII1U29Eu16H6LO3*O3O3O3O3O3O3O3O3O3O3
O-M12126VII1U29Eu16H6LO3aO3aO3a1O3a1O3a1O3a1O3a1O3a1O3a1O3a1aO3a1a
O-M16426VII1U29Eu16H6LO3bO3bO3a2O3a2O3a2O3a2O3a2O3a2O3a2O3a1bO3a1b
O-M15913VII1U31Eu16H6LO3cO3cO3a3aO3a3aO3a3O3a3O3a3aO3a3aO3a3aO3a3aO3a3a
O-M726VII1U29Eu16H7LO3d*O3cO3a3bO3a3bO3a4O3a4O3a3bO3a3bO3a3bO3a2bO3a2b
O-M11326VII1U29Eu16H7LO3d1O3c1O3a3b1O3a3b1-O3a4aO3a3b1O3a3b1O3a3b1O3a2b1O3a2b1
O-M13426VII1U30Eu16H8LO3e*O3dO3a3cO3a3cO3a5O3a5O3a3cO3a3cO3a3cO3a2c1O3a2c1
O-M11726VII1U30Eu16H8LO3e1*O3d1O3a3c1O3a3c1O3a5aO3a5aO3a3c1O3a3c1O3a3c1O3a2c1aO3a2c1a
O-M16226VII1U30Eu16H8LO3e1aO3d1aO3a3c1aO3a3c1aO3a5a1O3a5a1O3a3c1aO3a3c1aO3a3c1aO3a2c1a1O3a2c1a1

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.

See also

Genetics

Y-DNA O Subclades

Y-DNA Backbone Tree

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F2  F3  GHIJK
G HIJK
IJK H
IJ   K
I J     LT [χ 5]  K2
L     T [χ 6] K2a [χ 7] K2b [χ 8]   K2c   K2d  K2e [χ 9]  
K2a1                    K2b1 [χ 10]    P [χ 11]
NO    S [χ 12]  M [χ 13]    P1     P2
NO1    Q   R
N O
  1. Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. PMID 24166809. doi:10.1002/humu.22468.
  2. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. Haplogroup A0-T is also known as A0'1'2'3'4.
  4. Haplogroup A1 is also known as A1'2'3'4.
  5. Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  7. Haplogroup K2a (M2308) and the new subclade K2a1 (M2313) were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. PMC 4884158Freely accessible. PMID 27111036. doi:10.1038/ng.3559. In the past, other haplogroups, including NO1 (M214) and K2e had also been identified with the name "K2a".
  8. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
  10. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
  11. Haplogroup P (P295) is also klnown as K2b2.
  12. Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
  13. Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)


References

Citations

  1. G. David Poznik, Yali Xue, Fernando L. Mendez, et al., "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences." Nature Genetics 2016 June ; 48(6): 593–599. doi:10.1038/ng.3559.
  2. 1 2 YFull Haplogroup YTree v5.04 at 16 May 2017
  3. T. M. Karafet, S. L. Zegura, O. Posukh, L. Osipova, A. Bergen, J. Long, D. Goldman, W. Klitz, S. Harihara, P. de Knijff, V. Wiebe, R. C. Griffiths, A. R. Templeton, and M. F. Hammer, "Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes." American Journal of Human Genetics 64:817–831, 1999.
  4. 1 2 Simona Fornarino, Maria Pala, Vincenza Battaglia, et al., "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation." BMC Evolutionary Biology 2009, 9:154 doi:10.1186/1471-2148-9-154.
  5. 1 2 3 Shi, Hong; Dong, Yong-li; Wen, Bo; Xiao, Chun-Jie; Underhill, Peter A.; Shen, Pei-dong; Chakraborty, Ranajit; Jin, Li; Su, Bing (Sep 2005). "Y-Chromosome Evidence of Southern Origin of the East Asian–Specific Haplogroup O3-M122". American Journal of Human Genetics. 77 (408–419): 2005. PMC 1226206Freely accessible. PMID 16080116. doi:10.1086/444436.
  6. Kim, Soon-Hee; Kim, Ki-Cheol; Shin, Dong-Jik; Jin, Han-Jun; Kwak, Kyoung-Don; Han, Myun-Soo; Song, Joon-Myong; Kim, Won; Kim, Wook (2011). "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea". Investigative Genetics. 2 (1): 10–121. PMC 3087676Freely accessible. PMID 21463511. doi:10.1186/2041-2223-2-10.
  7. 1 2 3 Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26: 358–61. PMID 11062480. doi:10.1038/81685.
  8. Wang, Chuan-Chao; Wang, Ling-Xiang; Shrestha, Rukesh; Zhang, Manfei; Huang, Xiu-Yuan; Hu, Kang; Jin, Li; Li, Hui (2014). "Genetic Structure of Qiangic Populations Residing in the Western Sichuan Corridor". PLOS ONE. 9 (8): e103772. PMC 4121179Freely accessible. PMID 25090432. doi:10.1371/journal.pone.0103772.
  9. Wang; Yan, Shi; Dong, QIN; Lu, Yan; Qi; Liang, DING; Hai, WEI; Shi; Lin, LI; Ya; Jun, YANG; Jin, Li; Li, Hui (2013). "Late Neolithic expansion of ancient Chinese revealed by Y chromosome haplogroup O3a1c‐002611". Journal of Systematics and Evolution. 51 (3): 280–286. doi:10.1111/j.1759-6831.2012.00244.x.
  10. Myung Jin Park, Hwan Young Lee, Woo Ick Yang, and Kyoung-Jin Shin, "Understanding the Y chromosome variation in Korea—relevance of combined haplogroup and haplotype analyses." International Journal of Legal Medicine July 2012, Volume 126, Issue 4, pp 589–599. DOI: 10.1007/s00414-012-0703-9
  11. So Yeun Kwon, Hwan Young Lee, Eun Young Lee, Woo Ick Yang, and Kyoung-Jin Shin, "Confirmation of Y haplogroup tree topologies with newly suggested Y-SNPs for the C2, O2b and O3a subhaplogroups." Forensic Science International: Genetics 19 (2015) 42–46. http://dx.doi.org/10.1016/j.fsigen.2015.06.003
  12. O'Rourke, Dennis; Cai, Xiaoyun; Qin, Zhendong; Wen, Bo; Xu, Shuhua; Wang, Yi; Lu, Yan; Wei, Lanhai; Wang, Chuanchao; Li, Shilin; Huang, Xingqiu; Jin, Li; Li, Hui (2011). "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". PLoS ONE. 6 (8): e24282. ISSN 1932-6203. PMC 3164178Freely accessible. PMID 21904623. doi:10.1371/journal.pone.0024282.

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