Haplogroup O (Y-DNA)

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In human genetics, Haplogroup O (M175) is a Y-chromosome DNA haplogroup.

This haplogroup appears in 80-90% of all men in East and Southeast Asia, and it is almost exclusive to that region: M175 is almost nonexistent in Western Siberia, Western Asia, and Europe and is completely absent from Africa and the Americas, although certain clades of Haplogroup O do achieve significant frequencies among some tribal populations of South Asia, Altaic-speaking populations of Central Asia, and Austronesian-speaking populations of Oceania.

Haplogroup O is a descendant haplogroup of Haplogroup NO (M214), and is believed to have first appeared in Siberia or eastern Central Asia approximately 35,000 years ago. Haplogroup O shares a node in the phylogenetic tree of human Y-chromosomes with Haplogroup N, which is common throughout North Eurasia.

Among the subbranches of Haplogroup O are Haplogroup O1, Haplogroup O2, and Haplogroup O3. Haplogroup O* lineages, which belong to Haplogroup O but do not display any of the later mutations that define the major subclades O1, O2, and O3, can still be detected at a low frequency among most modern populations of Central Asia and East Asia. For example, a broad survey of Y-chromosome variation among populations of central Eurasia found haplogroup O-M175*(xO1a-M119,O2a-M95,O3-M122) in 2.5% (one out of 40 individuals) of a sample of Tajiks in Samarkand, 4.5% (1/22) of Crimean Tatars in Uzbekistan, 1.5% (1/68) of Uzbeks in Surkhandarya, 1.4% (1/70) of Uzbeks in Khorezm, 6.3% (1/16) of Tajiks in Dushanbe, 1.9% (1/54) of Kazakhs in Kazakhstan, 4.9% (2/41) of Uyghurs in Kazakhstan, and 31.1% (14/45) of Koreans.^[1] However, approximately 30% of all Korean O*(xO1a,O2a,O3) Y-chromosomes probably belong to Haplogroup O2b, which has been found to be very common among Koreans. There is also a possibility that the so-called Haplogroup O* Y-chromosomes that have been found among these populations might belong to Haplogroup O1*(xO1a-M119), Haplogroup O2*(xO2a-M95,O2b-M176), or Haplogroup O2b-M176.

The subclades of Haplogroup O with their defining mutation, according to the 2006 ISOGG tree:

O (M175)
- O*
- O1 (MSY2.2)
  - O1*
  - O1a (M119) Typical of Austronesians, southern Han Chinese, and Tai-Kadai peoples
    - O1a*
    - O1a1 (M101)
    - O1a2 (M50, M103, M110)
- O2 (P31, M268)
  - O2*
  - O2a (M95) Typical of Austro-Asiatic peoples, Tai-Kadai peoples, Malays, and Indonesians, with a moderate distribution throughout South Asia, Southeast Asia, East Asia, and Central Asia
    - O2a*
    - O2a1 (M88, M111) Frequently found among Hani, Tai peoples, Cambodians, and Vietnamese, with a moderate distribution among Qiang, Yi, Hlai, Yao, Taiwanese aborigines, and Han Chinese of Sichuan, Guangxi, and Guangdong
      - O2a1*
      - O2a1a (PK4) Found at low frequency among Pashtuns^[2]
    - O2a2 (M297)
  - O2b (SRY465 (M176))
    - O2b*
    - O2b1 (P49) Typical of Koreans
      - O2b1*
      - O2b1a (47z) Typical of Japanese and Ryukyuans
- O3 (M122) Typical of populations of East Asia, Southeast Asia, and culturally Austronesian regions of Oceania, with a moderate distribution in Central Asia
  - O3*
  - O3a (M324)
    - O3a*
    - O3a1 (M121, DYS257)
    - O3a2 (M164)
    - O3a3 (LINE1, M159) Found at low to moderate frequency throughout East Asia and Southeast Asia, especially among Hmong-Mien peoples and Han Chinese
    - O3a4 (M7) Typical of Hmong-Mien peoples
      - O3a4*
      - O3a4a (M113, M188, M209)
        
        O3a4a*
        
        O3a4a1 (N4)
        
        O3a4a2 (N5)
    - O3a5 (M134) Typical of Sino-Tibetan peoples, with a moderate distribution throughout East Asia and Southeast Asia
      - O3a5*
      - O3a5a (M117, M133) Typical of Han Chinese and Tibetans, with a moderate distribution throughout East Asia
        
        O3a5a*
        
        O3a5a1 (M162)
      - O3a5b (P101)
    - O3a6 (M300)
    - O3a7 (M333)

^ R. Spencer Wells, Nadira Yuldasheva, Ruslan Ruzibakiev, Peter A. Underhill, Irina Evseeva, Jason Blue-Smith, Li Jin, Bing Su, Ramasamy Pitchappan, Sadagopal Shanmugalakshmi, Karuppiah Balakrishnan, Mark Read, Nathaniel M. Pearson, Tatiana Zerjal, Matthew T. Webster, Irakli Zholoshvili, Elena Jamarjashvili, Spartak Gambarov, Behrouz Nikbin, Ashur Dostiev, Ogonazar Aknazarov, Pierre Zalloua, Igor Tsoy, Mikhail Kitaev, Mirsaid Mirrakhimov, Ashir Chariev, and Walter F. Bodmer: "The Eurasian Heartland: A continental perspective on Y-chromosome diversity." Proceedings of the National Academy of Sciences of the United States of America v.98(18); Aug 28, 2001
^ Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan, Sadaf Firasat, Shagufta Khaliq, Aisha Mohyuddin, Myrto Papaioannou, Chris Tyler-Smith, Peter A Underhill and Qasim Ayub, European Journal of Human Genetics (2007) 15, 121–126