Haplogroup O1 (Y-DNA)

Haplogroup O1a
Possible time of origin
Possible place of origin
Ancestor O1
Defining mutations M119
Highest frequencies Taiwanese aborigines 69%[1]-90%,[2] Hlai/Cun 8%[3]-58%,[3] Filipinos 10%[2]-46%,[4][5] Trobriand Islands 28%,[6] Borneo 15%[6]-29%,[5] Java 23%,[6] Nusa Tenggara 23%,[6] Admiralty Islands 18%,[7] Balinese 18%,[2] Sui 18%,[8] Malagasy 17%,[5] Han 7%[4]-23%,[6] Zhuang 10%[9][10]-18%,[11] Tujia 7%[8]-20%[11]

In human genetics, Haplogroup O1 (MSY2.2) 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 (M119).

Contents

Origins

The Haplogroup O1 branch is believed to have evolved during the Late Pleistocene (Upper Paleolithic) in Southeast Asia. The genetic marker, Haplogroup O1a-M119 is found frequently among Austronesian peoples, Tai–Kadai peoples, and various other ethnic minorities in China. This lineage is presumed to be a marker of the prehistoric Austronesian expansion, with possible origins encompassing the regions along the southeastern coast of China and neighboring Taiwan, and is found among modern populations of Maritime Southeast Asia and Oceania.[2]

A 2009 study by Karafet et al. at the University of Arizona suggests haplogroup O1 was part of a four-phase colonization model in which Paleolithic migrations of hunter-gatherers shaped the primary structure of current Y chromosome diversity of Maritime Southeast Asia. Neolithic incursions made only a minor impact on the paternal gene pool, despite the large cultural impact of the Austronesian expansion. Approximately 5000 BCE, Haplogroup O1 coalesced at Sundaland and migrated northwards to as far as Taiwan, where O1a2 constitutes some 90% of the Aboriginal Y-DNA, being the main haplogroup that can be directly linked to the Austronesian expansion in phase 3.[12]

Li et al. at the Yale University Department of Genetics, School of Medicine, concluded that in contrast to the Taiwan homeland hypothesis, Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. According to their results, lineages within Maritime Southeast Asia did not originate from Taiwanese aborigines as linguistic studies suggest. Taiwan aborigines and Indonesians were likely to have been derived from the Daic populations based on their paternal lineages, and therefore evolved independently of each other.[13]

The strongest positive correlation between Haplogroup O1 and ethnolinguistic affiliation is that which is observed between this haplogroup and the Austronesians. The peak frequency of Haplogroup O1 is found among the aborigines of Taiwan, precisely the region from which linguists have hypothesized that the Austronesian language family originated. A slightly weaker correlation is observed between Haplogroup O1 and the Han Chinese populations of southern China, as well as between this haplogroup and the Tai–Kadai-speaking populations of southern China and Southeast Asia. The distribution of Daic languages in Thailand and other parts of Southeast Asia outside of China has long been believed, for reasons of traditional linguistic geography, to reflect a recent invasion of Southeast Asia by Daic-speaking populations originating from southeastern China, and the somewhat elevated frequency of Haplogroup O1 among the Daic populations, coupled with a high frequency of Haplogroup O2a, which is a genetic characteristic of the Austro-Asiatic peoples of Southeast Asia, suggests that the genetic signature of the Daic peoples' affinity with populations of southeastern China has been weakened due to extensive assimilation of the earlier Austro-Asiatic residents of the lands which the Daic peoples invaded. Also, it has been noted that Haplogroup O1 lineages among populations of continental Southeast Asia outside of China display a reduced level of diversity when compared with populations of South China and insular Southeast Asia, which may be evidence of a bottleneck associated with the westward migration and settlement of ancestral Daic-speaking populations in Indochina.

Distribution

Haplogroup O1 lineages are found primarily in Southeast Asian populations of Malaysia, Vietnam, Indonesia, the Philippines, southern China and Taiwan.[14]

Haplogroup O1a-M119 Y-chromosomes also have been found to occur at low frequency among various populations of Siberia, such as the Nivkhs (one of 17 sampled Y-chromosomes), Ulchi/Nanai (2/53), Yenisey Evenks (1/31), and especially the Buryats living in the Sayan-Baikal uplands of Irkutsk Oblast (6/13).[15]

Frequencies

A 2008 study by Li et al. at Yale University Department of Genetics, School of Medicine, demonstrated that the admixture analyses of Daic populations showed a significant genetic influence over a large proportion of Indonesians. Most of the population samples contained a high frequency of haplogroup O1a-M119.[16]

The frequencies of Haplogroup O1 among various East Asian and Austronesian populations suggest a complex genetic history of the modern Han populations of southern China. Although Haplogroup O1 occurs only at an average frequency of approximately 4% among Han populations of northern China and peoples of southwestern China and Southeast Asia who speak Tibeto-Burman languages, the frequency of this haplogroup among the Han populations of southern China nearly quadruples to about 15%. The frequency of Haplogroup O1 among the Southern Han has been found to be slightly greater than the arithmetic mean of the frequencies of Haplogroup O1 among the Northern Han and a pooled sample of Austronesian populations. This suggests that modern Southern Han populations may possess a non-trivial number of male ancestors who were originally affiliated with some Austronesian-related culture, or who at least shared a genetic affinity with many of the ancestors of modern Austronesian peoples.

Subgroups

The subclades of Haplogroup O1 with their defining mutation(s), according to the 2010 ISOGG tree:

References

  1. ^ a b Underhill, PA; Shen, P; Lin, AA; Jin, L; Passarino, G; Yang, WH; Kauffman, E; Bonné-Tamir, B et al. (2000). "Y chromosome sequence variation and the history of human populations". Nature genetics 26 (3): 358–61. doi:10.1038/81685. PMID 11062480. 
  2. ^ a b c d Karafet, TM; Lansing, JS; Redd, AJ; Reznikova, S; Watkins, JC; Surata, SP; Arthawiguna, WA; Mayer, L et al. (2005). "Balinese Y-Chromosome Perspective on the Peopling of Indonesia: Genetic Contributions from Pre-Neolithic Hunter-Gatherers, Austronesian Farmers, and Indian Traders". Human Biology 77 (1): 93–114. doi:10.1353/hub.2005.0030. PMID 16114819. http://www.ic.arizona.edu/~lansing/docs/Y%20Bali%20article.pdf. 
  3. ^ a b MacAulay, Vincent; Li, Dongna; Li, Hui; Ou, Caiying; Lu, Yan; Sun, Yuantian; Yang, Bo; Qin, Zhendong et al. (2008). MacAulay, Vincent. ed. "Paternal Genetic Structure of Hainan Aborigines Isolated at the Entrance to East Asia". PLoS ONE 3 (5): e2168. doi:10.1371/journal.pone.0002168. PMC 2374892. PMID 18478090. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2374892. 
  4. ^ a b Tajima, Atsushi; Hayami, Masanori; Tokunaga, Katsushi; Juji, T; Matsuo, M; Marzuki, S; Omoto, K; Horai, S (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics 49 (4): 187–193. doi:10.1007/s10038-004-0131-x. PMID 14997363. 
  5. ^ a b c d Hurles, Matthew E.; Sykes, Bryan C.; Jobling, Mark A.; Forster, Peter (2005). "The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages". American Journal of Human Genetics 76 (5): 894–901. doi:10.1086/430051. PMC 1199379. PMID 15793703. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1199379. 
  6. ^ a b c d e Kayser, Manfred; Brauer, Silke; Weiss, Gunter; Schiefenhövel, W; Underhill, P; Shen, P; Oefner, P; Tommaseo-Ponzetta, M et al. (2003). "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". American Journal of Human Genetics 72 (2): 281–302. doi:10.1086/346065. PMC 379223. PMID 12532283. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=379223. 
  7. ^ Kayser, M.; Choi, Y.; Van Oven, M.; Mona, S.; Brauer, S.; Trent, R. J.; Suarkia, D.; Schiefenhovel, W. et al. (2008). "The Impact of the Austronesian Expansion: Evidence from mtDNA and Y Chromosome Diversity in the Admiralty Islands of Melanesia". Molecular Biology and Evolution 25 (7): 1362–74. doi:10.1093/molbev/msn078. PMID 18390477. 
  8. ^ a b Xie, XH; Li, H; Mao, XY; Wen, B; Gao, S; Jin, JZ; Lu, DR; Jin, L (2004). "Genetic structure of Tujia as revealed by Y chromosomes". Acta Genetica Sinica 31 (10): 1023–1029. PMID 15552034. 
  9. ^ Chen, J; Li, H; Qin, ZD; Liu, WH; Lin, WX; Yin, RX; Jin, L; Pan, SL (2006). "Y-chromosome genotyping and genetic structure of Zhuang populations". Yi chuan xue bao = Acta genetica Sinica 33 (12): 1060–72. doi:10.1016/S0379-4172(06)60143-1. PMID 17185165. 
  10. ^ 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. doi:10.1007/s10038-005-0322-0. PMID 16328082. 
  11. ^ a b Su, B; Xiao, J; Underhill, P; Deka, R; Zhang, W; Akey, J; Huang, W; Shen, D et al. (1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". American Journal of Human Genetics 65 (6): 1718–1724. doi:10.1086/302680. PMC 1288383. PMID 10577926. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288383. 
  12. ^ Karafet, T. M.; Hallmark, B.; Cox, M. P.; Sudoyo, H.; Downey, S.; Lansing, J. S.; Hammer, M. F. (2010). "Major East-West Division Underlies Y Chromosome Stratification across Indonesia". Molecular Biology and Evolution 27 (8): 1833–44. doi:10.1093/molbev/msq063. PMID 20207712. 
  13. ^ Li, Hui; Wen, Bo; Chen, Shu-Juo; Su, Bing; Pramoonjago, Patcharin; Liu, Yangfan; Pan, Shangling; Qin, Zhendong et al. (2008). "Paternal genetic affinity between western Austronesians and Daic populations". BMC Evolutionary Biology 8: 146. doi:10.1186/1471-2148-8-146. PMC 2408594. PMID 18482451. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2408594. 
  14. ^ "Y-DNA Haplogroup O and its Subclades. 2010". International Society of Genetic Genealogy. http://www.isogg.org/tree/ISOGG_HapgrpO.html. Retrieved 2010. 
  15. ^ Lell, Jeffrey T.; Sukernik, Rem I.; Starikovskaya, Yelena B.; Su, Bing; Jin, Li; Schurr, Theodore G.; Underhill, Peter A.; Wallace, Douglas C. (2002). "The Dual Origin and Siberian Affinities of Native American Y Chromosomes". American Journal of Human Genetics 70 (1): 192–206. doi:10.1086/338457. PMC 384887. PMID 11731934. http://www.journals.uchicago.edu/AJHG/journal/issues/v70n1/013099/013099.web.pdf. 
  16. ^ Li, Hui; Wen, Bo; Chen, Shu-Juo; Su, Bing; Pramoonjago, Patcharin; Liu, Yangfan; Pan, Shangling; Qin, Zhendong et al. (2008). "Paternal genetic affinity between western Austronesians and Daic populations". BMC Evolutionary Biology 8: 146. doi:10.1186/1471-2148-8-146. PMC 2408594. PMID 18482451. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2408594. 

See also

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