Haplogroup O2b (Y-DNA)

Haplogroup O2b
Possible time of origin	6,300 [95% CI 600–37,000] years ago[1]
Possible place of origin	Manchuria or a nearby part of northern East Asia
Ancestor	O2
Defining mutations	M176/SRY465, P49, 022454
Highest frequencies	Japanese 32%[2] (26%[3][4]-36%[1]), Koreans 30%[5] (19%[3][6]-40%[1]), Okinawans 23%[7] (22%[8]-23%[9]), Manchus 19%[10] (4%[11]-34%[1])

Haplogroup O2b (SRY465, a.k.a. M176) is a human Y-chromosome DNA haplogroup. It is a descendant haplogroup of Haplogroup O2. Haplogroup O2b is found mainly in the northernmost parts of East Asia, from the Uriankhai and Zakhchin peoples of western Mongolia^[1] to the Japanese of Japan, though it also has been detected sporadically in the Buryats^[3] and Udegeys^[12] of southern Siberia, very rarely among populations of Southeast Asia (including Indonesia,^[8][3] the Philippines,^[3] Thailand,^[3] and Vietnam^[8][3]), and Micronesians.^[8] 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^[3] and Jiangsu,^[13] Daurs,^[14] Hezhes,^[14] Koreans in China,^[14][1] Manchus,^[14][1][11] and Sibes.^[14]

Subgroups

The phylogeography of Haplogroup O2b suggests an ancient origin in Manchuria or a nearby part of northern East Asia, followed by a long period of isolated evolution and population increase in the vicinity of the Korean Peninsula. Only branches of this haplogroup that are labeled as Haplogroup O2b*, i.e. those that do not exhibit the 47z mutation, have been detected among the indigenous populations of Inner Mongolia and northern Manchuria, and even then they are found only at very low frequencies. However, Haplogroup O2b* Y-chromosomes have been detected with high frequency in Korea, where they account for approximately 14%^[3][4][14] to 33%^[8] of the Korean male population.

Haplogroup O2b1
Possible time of origin	7,870 [95% CI 5,720–12,630] years ago[8]
Possible place of origin	Korean Peninsula or Japanese Archipelago[3][8]
Ancestor	O2b
Defining mutations	47z
Highest frequencies	Japanese 24%[15] (19%[3]-25%[8][9]), Okinawans 17%[16] (11%[8]-20%[9]), Koreans 8%[17] (4%[8][11]-12%[14]), Manchus 7%[18] (0%[11][8][14]-19%[4])

A subclade of Haplogroup O2b, namely Haplogroup O2b1-47z, is found with high frequency among the Yamato people and Ryukyuan populations of Japan. Haplogroup O2b1 has been detected in approximately 22% of all males who speak a Japonic language, while it has not been found at all among a total of twenty Ainu males whose Y-DNA has been sampled in two genetic studies.^[8][19] Based on the STR haplotype diversity within Haplogroup O2b1, it has been estimated that this haplogroup began to experience a population expansion among the proto-Japanese of approximately 4,000 years ago, which makes it a good candidate for a marker of the intrusion of a Neolithic population of the prehistoric Korean Peninsula into the southwestern parts of the Japanese Archipelago. However, the parent haplogroup, O2b*, is also found among Japanese, although at a relatively low frequency of approximately 4%^[14] to 8%^[9], and the descendant haplogroup O2b1 is found only with low frequency among samples of modern Koreans, which suggests the possibility that Haplogroup O2b* might have colonized the Japanese Archipelago much earlier, with the subgroup O2b1 subsequently evolving within the proto-Japanese-Ryukyuan population of the western parts of the archipelago.

References

1. ^ ^{a b c d e f g} Toru Katoh, Batmunkh Munkhbat, Kenichi Tounai et al., "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis," Gene (2004). doi:10.1016/j.gene.2004.10.023
2. ^ 238/744 = 32.0% O2b-SRY465 in a pool of all Japanese samples of Xue et al. (2006), Katoh et al. (2004), Han-Jun Jin et al. (2009), Nonaka et al. (2007), and all non-Ainu and non-Okinawan Japanese samples of Hammer et al. (2006).
3. ^ ^{a b c d e f g h i j k} Han-Jun Jin, Kyoung-Don Kwak, Michael F. Hammer, Yutaka Nakahori, Toshikatsu Shinka, Ju-Won Lee, Feng Jin, Xuming Jia, Chris Tyler-Smith and Wook Kim, "Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans," Human Genetics (2003)
4. ^ ^{a b c} Han-Jun Jin, Chris Tyler-Smith, and Wook Kim (2009), "The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers," PLoS ONE 4(1): e4210. doi:10.1371/journal.pone.0004210
5. ^ 202/677 = 29.8% O2b-SRY465 in a pool of all ethnic Korean samples of Hammer et al. (2006), Xue et al. (2006), Katoh et al. (2004), Wook Kim et al. (2007), and Han-Jun Jin et al. (2009).
6. ^ Wook Kim, Tag-Keun Yoo, Sung-Joo Kim et al. (2007), "Lack of Association between Y-Chromosomal Haplogroups and Prostate Cancer in the Korean Population," PLoS ONE 2(1): e172. doi:10.1371/journal.pone.0000172
7. ^ 30/132 = 22.7% O2b-SRY465 in a pool of all Okinawan data from Hammer et al. (2006) and Nonaka et al. (2007)
8. ^ ^{a b c d e f g h i j k l} Michael F. Hammer, Tatiana M. Karafet, Hwayong Park et al., "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes," Journal of Human Genetics (2006) 51:47–58
9. ^ ^{a b c d} I. Nonaka, K. Minaguchi, and N. Takezaki (2007), "Y-chromosomal Binary Haplogroups in the Japanese Population and their Relationship to 16 Y-STR Polymorphisms," Annals of Human Genetics Volume 71 Issue 4, Pages 480 - 495
10. ^ 45/232 = 19.4% O2b-SRY465 in a pool of all Manchu samples of Karafet et al. (2001), Han-Jun Jin et al. (2003), Katoh et al. (2004), and Xue et al. (2006)
11. ^ ^{a b c d} Tatiana Karafet, Liping Xu, Ruofu Du et al., "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes," American Journal of Human Genetics 69:615–628, 2001
12. ^ Han-Jun Jin, Ki-Cheol Kim, and Wook Kim, "Genetic Diversity of Two Haploid Markers in the Udegey Population From Southeastern Siberia," American Journal of Physical Anthropology (2010) DOI 10.1002/ajpa.21232
13. ^ Chuncheng Lu, Jie Zhang, Yingchun Li et al., "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 Advance Access originally published online on December 16, 2008.
14. ^ ^{a b c d e f g h i} Yali Xue, Tatiana Zerjal, Weidong Bao et al., "Male Demography in East Asia: A North–South Contrast in Human Population Expansion Times," Genetics 172: 2431–2439 (April 2006). DOI: 10.1534/genetics.105.054270
15. ^ 150/628 = 23.9% O2b1-47z in a pool of all non-Ainu and non-Okinawan Japanese samples of Jin et al. (2003), Hammer et al. (2006), Xue et al. (2006), and Nonaka et al. (2007)
16. ^ 22/132 = 16.7% O2b1-47z in a pool of all Okinawan samples of Hammer et al. (2006) and Nonaka et al. (2007)
17. ^ 41/519 = 7.9% O2b1-47z in a pool of all ethnic Korean samples of Jin et al. (2003), Hammer et al. (2006), Xue et al. (2006), and Kim et al. (2007)
18. ^ 9/135 = 6.7% O2b1-47z in a pool of all "Manchu" or "Manchurian" samples of Hammer et al. (2006), Xue et al. (2006), and Jin et al. (2009)
19. ^ Tajima A, Hayami M, Tokunaga K et al. (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". J. Hum. Genet. 49 (4): 187–93. doi:10.1007/s10038-004-0131-x. PMID 14997363.

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups

most recent common Y-ancestor

A

A1b

A1a-T

A1a

A2-T

A2

A3

BT

B

CT

DE

CF

D

E

C

F

G

H

IJK

IJ

K

I

J

LT

K(xLT)

L

T

M

NO

P

S

O

N

Q

R

Y-DNA by populations · Famous Y-DNA haplotypes