Haplogroup O-M176

Haplogroup O-M176 Geograhpical distribution of Y-crhomosome haplogroup O1b2-M176
Possible time of origin	28,500 [95% CI 26,200 <-> 30,900] years before present[1]
Possible place of origin	Korean Peninsula, Manchuria or a nearby part of northern East Asia[2][3]
Coalescence age	12,100 [95% CI 9,700 <-> 14,600] years before present (YFull[1]) 6,300 [95% CI 600–37,000] years ago (Katoh 2004)
Ancestor	O-P31
Defining mutations	M176/SRY465, P49, 022454
Highest frequencies	Koreans, Japanese, Ryukyuans, Manchus Japanese 32%[Footnote 1] 26% (Jin 2003) (Jin 2009)-36% (Katoh 2004) South Koreans 30%[Footnote 2] 19% (Jin 2003) -37% (Park 2013) Okinawans 27%[Footnote 3] 22% (Hammer 2006)-31% (Mizuno 2008) Manchus 19%[Footnote 4] 4% (Karafet 2001)-34% (Katoh 2004)

In human population genetics, Y-Chromosome haplogroups define the major lineages of direct paternal (male) lines back to a shared common ancestor in Africa. Haplogroup O-M176 (aka O-SRY465) is a human Y-chromosome DNA haplogroup. It is best known for its part in the settlement of Korea and Japan. It is a descendant of Haplogroup O-P31, and it has been estimated to share a most recent common ancestor with its nearest outgroup, Haplogroup O-K18, approximately 28,500 [95% CI 26,200 <-> 30,900] years before present.^[4]

Distribution

Haplogroup O-M176 is found mainly in the northernmost parts of East Asia, from the Uriankhai and Zakhchin peoples of western Mongolia (Katoh 2004) to the Japanese of Japan, though it also has been detected sporadically in the Buryats (Jin 2003). It's been detected with moderate frequencies in Udegeys (Jin 2010) of southern Siberia, rarely among populations of Southeast Asia including Indonesia (Hammer 2006 and Jin 2003), the Philippines (Jin 2003), Thailand (Jin 2003), and Vietnam (Hammer 2006 and Jin 2003), and Micronesians (Hammer 2006). This haplogroup is found with its highest frequency and diversity values among modern populations of Japan and Korea and is absent from most populations in China, but it has been detected in some samples of Han Chinese from Beijing (Jin 2003) and (1/51, Kim 2011)^[5], Shanghai (seven individuals, (Wu 2009)), Xi'an (1/34, Kim 2011)^[5], Jiangsu (Lu 2008), Wuhan (1/160)^[6], South China outside of Jiangsu, Anhui, Zhejiang, and Shanghai (1/65)^[7] and southern Fujian^[8], Koreans in China (Xue 2006 and Katoh 2004), Manchus (Xue 2006, Katoh 2004, and Karafet 2001), Sibes (Xue 2006), and Kham Tibetans.^[9]

Subclade distribution

Paragroup O-M176*

Y-DNA that belongs to O-M176(xK10, F3356) has been found in an individual from Hiroshima, an individual from Beijing, and 1% (7/706) of a sample of males collected in Seoul and Daejeon.^[10]

O-M176(x47z) has been found in approximately 3.5%^[11] to 9.9%^[12] of Japanese males. However, most of those individuals probably belong to subclades of O-K10(x47z).

O-K10

The majority of extant members of O-M176 belong to the subclade O-K10 (or O-F3356). O-K10 subsumes the prolific subclades O-47z, which occurs with especially high frequency in Japan, and O-L682, which occurs with especially high frequency in Korea, in addition to a relatively rare subclade, O-K3, which has been found among Manchus and southern Han Chinese. O-L682 and O-K3 are linked by 18 SNPs that define the O-K4 clade, and thus their members are more closely related to one another by paternal lineage than any of them is related to any member of O-47z.

An example of Y-DNA that belongs to O-K10 but neither O-47z nor O-K4 has been found in an individual in Tokyo, Japan. This individual's Y-DNA is estimated to share a most recent common ancestor with O-47z and O-K4 roughly around the same time as the most recent common ancestor of those latter two clades, about 8,200 [95% CI 6,300 <-> 10,200] ybp.^[4]

O-F3356(x47z, L682) has been found in 2% (14/706) of a sample of Koreans collected in Seoul and Daejeon, South Korea.^[10] However, the status of these individuals' Y-DNA in regard to K4, K3, and phylogenetically equivalent SNPs has not been published.

O-47z

Haplogroup O-47z Geograhpical distribution of Y-crhomosome haplogroup O1b2a1-47z
Possible time of origin	7,870 [95% CI 5,720–12,630] years ago (Hammer 2006) 8,200 [95% CI 6,300 <-> 10,200] ybp[4]
Possible place of origin	Japanese Archipelago(Hammer 2006)　or　Korean Peninsula(see Jin 2003)
Ancestor	O-M176
Defining mutations	47z
Highest frequencies	Japanese, Ryukyuans, Koreans, Manchus Japanese 24%[Footnote 5] Range: 19% (Jin 2003) to 29% (Katoh 2004) Okinawans 17%[Footnote 6] Range: 11% (Hammer 2006) to 20% (Nonaka 2007) South Koreans 8%[Footnote 7] Range: 4% (Hammer 2006 and Karafet 2001) to 12% (Xue 2006) Manchus 7%[Footnote 8] Range: 0% Karafet 2001, Hammer 2006, and Xue 2006 to 19% (Jin 2009)

O-47z or O-CTS11986 is a subclade of O-K10. It is found with high frequency among the Japanese and Ryukyuan populations of Japan, and with lower frequency among Koreans.

Haplogroup O-47z has been detected in approximately 24% of males who speak a Japonic language, while it has not been found at all among Ainu males whose Y-DNA has been tested in two genetic studies (Tajima 2004, n=16; Hammer 2006, n=4). Based on the STR haplotype diversity within Haplogroup O-47z, it has been estimated that this haplogroup began to experience a population expansion among the proto-Japanese of approximately 4,000 years ago. Haplogroup O-47z also has been found among samples of modern Koreans, though with low frequency in comparison to both the frequency of O-47z in samples of Japanese and the frequency of O-M176(x47z) in samples of Koreans.

O-47z has also been detected in two separate Han Chinese in Shanghai (Wu 2009).

O-K4

O-K4 is a subclade of O-K10. It includes at least two subclades, O-L682 and O-K3, which have been estimated to share a most recent common ancestor approximately 6,300 [95% CI 4,700 <-> 8,000] years before present.^[1]

O-K3

Haplogroup O-F940 Geograhpical distribution of Y-crhomosome haplogroup O1b2a2b-F940
Possible time of origin	3,500 [2,000-13,000]
Possible place of origin	Manchuria or Korean Peninsula
Ancestor	O-F2868
Defining mutations	CTS12145, F1912, F2206, F2703, F940, K3
Highest frequencies	Manchurian, Manchu Mongolian, Manchu Han Manchus 0-26% (katoh et al 2005) Manchu Mongolian 0-4% (Guo et al 2015) Manchu Han 0-4% (Liu et al 2014)

The O-K3 (or O-F940) lineage is a subclade of O-K4 that has been observed to date in two Han Chinese individuals from Southern China (Hunan and/or Fujian).

O-L682

Haplogroup O-L682 Geograhpical distribution of Y-crhomosome haplogroup O1b2a2a-L682
Possible time of origin	6,300 [95% CI 4,700 <-> 8,000] ybp[4]
Possible place of origin	Korean Peninsula or Manchuria
Ancestor	O-M176, O-F3356
Defining mutations	L682
Highest frequencies	Koreans, Hezhen, Udege, Japanese, Ryukyuans, Manchus South Koreans 20%[Footnote 9] Range: 20% Katoh 2004 to 21% (Yoo 2014) Okinawans 12%[Footnote 10] Range: 11% (Mizuno 2008) to 12% (Hashiyada 2008) Hezhen 8% Range: 4% (Xue 2006) to 12% (HGDP 2009) Japanese 6%[Footnote 11] Range: 6% (Katoh 2004) to 7% (Hashiyada 2008) Manchus 3%[Footnote 12] 6% (Katoh 2004) Udeges 10% (Jin 2010)

The O-L682 subclade of O-K4 is believed to be related to Native Korean population. One study has found O-L682 Y-DNA in 19% (134/706) of Koreans sampled in Seoul and Daejeon.^[10] O-L682 also has been found in Japanese in Tokyo and the USA, Chinese in Beijing and Shandong, Nanai people in China, and Udege people in Russia. Its descendants appear to have begun rapidly increasing in number at approximately the same time as those of its distant cousin O-47z, perhaps 4,000 years ago.^[1]

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.

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.

• O2b (IMS-JST022454, L272.2, M176/Page63/SRY465, M302, P49, F1942/Page92)
  • O2b*
  • O2b1 (F3356)
    • O2b1*
    • O2b1a (47z)
    • O2b1b (L682)

Table of frequencies of O-M176

See also

Genetics

Y-DNA O subclades

Y-DNA backbone tree

References

Footnotes

Works cited

• Jin, Han-Jun; Kwak, Kyoung-Don; Hammer, Michael F.; Nakahori, Yutaka; Shinka, Toshikatsu; Lee, Ju-Won; Jin, Feng; Jia, Xuming; et al. (2003). "Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans". Human Genetics. 114 (1): 27–35. PMID 14505036. doi:10.1007/s00439-003-1019-0. 
• Hammer, Michael F.; Karafet, Tatiana M.; Park, Hwayong; Omoto, Keiichi; Harihara, Shinji; Stoneking, Mark; Horai, Satoshi (2005). "Dual origins of the Japanese: Common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics. 51 (1): 47–58. PMID 16328082. doi:10.1007/s10038-005-0322-0. 
• Jin, Han-Jun; Tyler-Smith, Chris; Kim, Wook (2009). Batzer, Mark A, ed. "The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers". PLoS ONE. 4 (1): e4210. PMC 2615218 . PMID 19148289. doi:10.1371/journal.pone.0004210. 
• Jin, Han-Jun; Kim, Ki-Cheol; Kim, Wook (2009). "Genetic diversity of two haploid markers in the Udegey population from southeastern Siberia". American Journal of Physical Anthropology. 142: NA. PMID 19953529. doi:10.1002/ajpa.21232. 
• Karafet, Tatiana; Xu, Liping; Du, Ruofu; Wang, William; Feng, Shi; Wells, R.S.; Redd, Alan J.; Zegura, Stephen L.; Hammer, Michael F. (2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics. 69 (3): 615–28. PMC 1235490 . PMID 11481588. doi:10.1086/323299. 
• Katoh, Toru; Munkhbat, Batmunkh; Tounai, Kenichi; Mano, Shuhei; Ando, Harue; Oyungerel, Ganjuur; Chae, Gue-Tae; Han, Huun; Jia, Guan-Jun; Tokunaga, Katsushi; Munkhtuvshin, Namid; Tamiya, Gen; Inoko, Hidetoshi (2005). "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis". Gene. 346: 63–70. PMID 15716011. doi:10.1016/j.gene.2004.10.023. 
• Kim, Wook; Yoo, Tag-Keun; Kim, Sung-Joo; Shin, Dong-Jik; Tyler-Smith, Chris; Jin, Han-Jun; Kwak, Kyoung-Don; Kim, Eun-Tak; Bae, Yoon-Sun (2007). Blagosklonny, Mikhail, ed. "Lack of Association between Y-Chromosomal Haplogroups and Prostate Cancer in the Korean Population". PLoS ONE. 2 (1): e172. PMC 1766463 . PMID 17245448. doi:10.1371/journal.pone.0000172. 
• Lu, C.; Zhang, J.; Li, Y.; Xia, Y.; Zhang, F.; Wu, B.; Wu, W.; Ji, G.; et al. (2009). "The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population". Human Molecular Genetics. 18 (6): 1122–30. PMID 19088127. doi:10.1093/hmg/ddn427. 
• Nonaka, I.; Minaguchi, K.; Takezaki, N. (2007). "Y-chromosomal Binary Haplogroups in the Japanese Population and their Relationship to 16 Y-STR Polymorphisms". Annals of Human Genetics. 71 (4): 480–95. PMID 17274803. doi:10.1111/j.1469-1809.2006.00343.x. 
• Tajima, Atsushi; Hayami, Masanori; Tokunaga, Katsushi; Juji, Takeo; Matsuo, Masafumi; Marzuki, Sangkot; Omoto, Keiichi; Horai, Satoshi (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics. 49 (4): 187–93. PMID 14997363. doi:10.1007/s10038-004-0131-x. 
• Xue, Y.; Zerjal, T; Bao, W; Zhu, S; Shu, Q; Xu, J; Du, R; Fu, S; et al. (2005). "Male Demography in East Asia: A North-South Contrast in Human Population Expansion Times". Genetics. 172 (4): 2431–9. PMC 1456369 . PMID 16489223. doi:10.1534/genetics.105.054270.