Haplogroup O-K18

In genetics, Haplogroup O-K18 is a human Y-chromosome DNA haplogroup. Haplogroup O-K18 is a descendant branch of Haplogroup O-P31. It is best known for the high frequency of its O-M95 subclade among populations of Southeast Asia and among speakers of Austroasiatic languages in South Asia.

Distribution

Haplogroup O-K18 is distributed widely in Asia, from southern India to the Altai Mountains and Central Asia in the west, and from Indonesia to northern China and Japan in the east. It is found only at marginally low frequencies of approximately 1% at the periphery of its distribution in southern India, Central Asia, northern China, and Japan, but many populations within the vast intervening territory in South Asia, Southeast Asia, and southern China display a greatly elevated frequency of Haplogroup O-K18 Y-chromosomes. Haplogroup O-M122, which attains its peak frequency among the Sino-Tibetan and Hmong–Mien peoples of China and Southeast Asia, and Haplogroup O-M119, which predominates among Taiwanese aborigines and many populations of the Philippines, also generally occur among speakers of Austroasiatic languages in South China and the Indochinese Peninsula, but usually at much lower frequencies than Haplogroup O-M95.

According to the National Geographic project regarding O-M95: The Austro-Asiatic language family developed in groups containing men from this lineage. As these groups spread across Southeast Asia in successive waves, they spread their language. Today, the distribution of men from this lineage matches the pattern of these waves of migration. It is 42 percent of male lineages in Java, 40 percent of male lineages in Vietnam, and 38 percent of male lineages in Borneo. It accounts for 28 percent of the male population in Malaysia. It is present in Sumatra in about 14 percent of the male population. In mainland China, it is, on average, about 3 percent of the male population. In South Asia, it is 9 percent of the Pardhan, between 1 and 2 percent of the Andh, and 10 percent of the Naikpod. It is around 59 percent of Balinese male lineages.

Subclade distribution

• O-K18
  • O-CTS10887 Found in Han Chinese, Vietnamese, Dai, and Japanese
  • O-PK4
    • O-F838 This lineage has been relocated upstream of M95 following a paper published on the subject in 2011.(Shi Yan et al. 2011) Found in three samples of Han Chinese: 3/65 = 4.6% South China, 1/129 = 0.8% North China, 1/167 = 0.6% East China.
    • O-M95 This lineage is frequently found among Austroasiatic peoples, Tai peoples, Balinese^[2], Japanese, Taiwanese, and Chinese, with a moderate distribution among other populations not mentioned, throughout South Asia, Southeast Asia, East Asia, and Central Asia.
      • O-M88 This lineage is frequently found among Hani, She people, and Vietnamese with a moderate distribution among Tai peoples, Cambodians, Qiang, Hlai, Miao, Yao, Taiwanese aborigines, populations of Borneo (Hurles 2005), Han Chinese of Sichuan, Guangxi, and Guangdong, and Pashtuns (Khaliq 2006)
      • O-M297 More research is needed on this lineage. It is claimed to be downstream from M95 and parallel to M88.

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.

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.

• O-M95 (M95)
  • O-M88 (M88, M111)

Table of frequencies of O-M95(xM88/M111)

Haplogroup O-M95
Possible time of origin	12,400 [95% CI 10,900 <-> 14,000] years before present[1]
Coalescence age	10,900 [95% CI 9,700 <-> 12,200] years before present[1]
Ancestor	O-K18 > O-PK4
Descendants	O-CTS10007, O-M1283, O-F4212, O-CTS10484, O-CTS7399, O-M111
Defining mutations	M95, F1931/M1362, F1358/M1318, CTS11761/M1487, F987/M1300, M1449, Y14250/Z23640, CTS9030/M1429, M1311, M1452, F709, M1458, CTS10977/M1474, FGC29889/Z23644/Y9045, F2176/M1376, FGC19660/Y9046, F2917/M1436, F4233/M1404, F2254/M1383, M1335, M1373
Highest frequencies	Nicobarese, Shompen, Bonda, Juang, Gadaba, Birhor, Lamet, Korku, Ho

Table of frequencies of O-M88/M111

See also

Genetics

Y-DNA O subclades

Y-DNA backbone tree

References

Footnotes

Works cited

Books

• Underhill, Peter (2005). "Chapter 17: A synopsis of extant Y chromosome diversity in East Asia and Oceania". In Sagart, Laurent; Blench, Roger; Sanchez-Mazas, Alicia. The Peopling of East Asia: Putting Together Archaeology, Linguistics and Genetics. Psychology Press. pp. 297–314. ISBN 9780415322423. 

Conference Posters

• Yong, R.Y.Y.; Gan, L.S.H.; Khripin, Y.; Yap, V.B.; Yap, E.P.H. (2006). Workshop 6 Genomic Variation and Diversity: Association of Y chromosome variation with paternal ancestry origin of three ethnic populations in Singapore. HUGO's 11th Human Genome Meeting Helsinki Fair Centre, Helsinki, Finland, Wed 31 May to Sat 3 June 2006. Helsinki, Finland. 

Journals

• Firasat, Sadaf; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2006). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics. 15 (1): 121–6. PMC 2588664 . PMID 17047675. doi:10.1038/sj.ejhg.5201726. 
• Fornarino, Simona; Pala, Maria; Battaglia, Vincenza; Maranta, Ramona; Achilli, Alessandro; Modiano, Guido; Torroni, Antonio; Semino, Ornella; Santachiara-Benerecetti, Silvana A (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): A reservoir of genetic variation". BMC Evolutionary Biology. 9 (1): 154. PMC 2720951 . PMID 19573232. doi:10.1186/1471-2148-9-154. 
• Hurles, M; Sykes, B; Jobling, M; Forster, P (2005). "The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages". The American Journal of Human Genetics. 76 (5): 894–901. PMC 1199379 . PMID 15793703. doi:10.1086/430051. 
• Karafet, Tatiana M.; Lansing, J. S.; Redd, Alan J.; Watkins, Joseph C.; Surata, S. P. K.; Arthawiguna, W. A.; Mayer, Laura; Bamshad, Michael; 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. PMID 16114819. doi:10.1353/hub.2005.0030. 
• Sahoo, Sanghamitra; Kashyap, V.K. (2006). "Phylogeography of mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India". American Journal of Physical Anthropology. 131 (1): 84–97. PMID 16485297. doi:10.1002/ajpa.20399. 
• Trivedi, Rajni; Sitalaximi, T.; Banerjee, Jheelam; Singh, Anamika; Sircar, P. K.; Kashyap, V. K. (2006). "Molecular insights into the origins of the Shompen, a declining population of the Nicobar archipelago". Journal of Human Genetics. 51 (3): 217–26. PMID 16453062. doi:10.1007/s10038-005-0349-2. 
• Shi Yan; Chuan-Chao Wang; Hui Li; Shi-Lin Li; Li Jin; The Genographic Consortium (2011). "An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4". European Journal of Human Genetics. 19 (9): 1013–1015. PMC 3179364 . PMID 21505448. doi:10.1038/ejhg.2011.64. 

Further reading

• 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" (PDF). Journal of Human Genetics. 51 (1): 47–58. PMID 16328082. doi:10.1007/s10038-005-0322-0. 
• Shi, Hong; Dong, Yong-li; Wen, Bo; Xiao, Chun-Jie; Underhill, Peter A.; Shen, Pei-Dong; Chakraborty, Ranajit; Jin, Li; Su, Bing (2005). "Y-Chromosome Evidence of Southern Origin of the East Asian–Specific Haplogroup O3-M122". The American Journal of Human Genetics. 77 (3): 408–19. PMC 1226206 . PMID 16080116. doi:10.1086/444436. 
• Thanseem, Ismail; Thangaraj, Kumarasamy; Chaubey, Gyaneshwer; Singh, Vijay; Bhaskar, Lakkakula VKS; Reddy, B Mohan; Reddy, Alla G; Singh, Lalji (2006). "Genetic affinities among the lower castes and tribal groups of India: Inference from Y chromosome and mitochondrial DNA". BMC Genetics. 7 (1): 42. PMC 1569435 . PMID 16893451. doi:10.1186/1471-2156-7-42.