Haplogroup C3 (Y-DNA)

Haplogroup C3
Possible time of origin	11,900 ± 4,800 years before present
Possible place of origin
Ancestor	C
Defining mutations	M217, P44, PK2
Highest frequencies	Oroqen 61%-91%, Evens 5%-74%, Evenks 44%-71%, Buryats 7%-84%, Mongolians 52%-54%, Tanana 42%, Kazakhs 40%, Hazaras 40%, Nivkhs 38%, Koryaks 33%, Daur 31%, Yukaghir 31%, Sibe 27%, Manchu 26%-27%, Altai 22%-24%, Hezhe 22%, Uzbeks 20%, Tujia 18%, Hani 18%, Cheyenne 16%, Apache 15%, Tuvans 15%, Ainu 12.5%-25%, Koreans 11%-16%, Hui 11%, Sioux 11%, Han Chinese 0%-22.5%

Haplogroup C3c
Possible time of origin	3,500 [95% CI 300–19,700] years before present or 2,750 ± 1,370 years before present
Possible place of origin	perhaps Mongolia or the Lake Baikal region
Ancestor	C3
Defining mutations	M48, M77, M86
Highest frequencies	Kazakhs 57%-63%, Oroqen 42%-68%, Evenks 27%-70%, Udegey 60%, Negidal 20%-100%, Evens 5%-61%, Itelmen 39%, Ulchi/Nanai 38%, Kalmyks 37%, Nivkhs 35%, Koryaks 33%, Yukaghir 23%, Mongolians 18%-46% (Uriankhai 33%, Zakhchin 30%, Khalkh 15%, Khoton 10%), Tuvans 7%-20%, Hezhe 11%, Kyrgyz 8%-12%

In human genetics, Haplogroup C3 (M217, P44) is a Y-chromosome DNA haplogroup mainly found in indigenous Siberians, Kazakhs and Mongolians. Haplogroup C3 is the most widespread and frequently occurring branch of the greater Haplogroup C (M130). One particular haplotype within Haplogroup C3 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan.

Genetic origin

Haplogroup C3 is believed to have originated approximately 20,000 years before present in eastern or central Asia. Its closest phylogenetic relatives are found in the general vicinity of South Asia, East Asia, or Oceania. First, Haplogroup C1 has a relictual distribution in Japan, which suggests an origin in the Jōmon people of the prehistoric Japanese Archipelago. Second, Haplogroup C2 appears to have expanded throughout East Indonesia, Melanesia, Micronesia, and Polynesia after the hybridization of Austronesian colonists, ultimately from the Asian mainland, with pre-existing Melanesians. Third, Haplogroup C4 is the predominant male lineage among the indigenous Australians. Finally, Haplogroup C5 is found at a low frequency in South Asia, Southwest Asia, and Central Asia. Haplogroup C* Y-chromosomes, which do not belong to any of the five identified subclades of Haplogroup C, are found at low frequency in Central Asia, South Asia, Southeast Asia, East Asia, and Oceania.

Distribution

Haplogroup C3 is the modal haplogroup among Mongolians and most indigenous populations of the Russian Far East, such as the Northern Tungusic peoples, Koryaks, Itelmens, and Nivkhs. The subclade C3b-P39 is quite common among males of the indigenous North American peoples whose languages belong to the Na-Dené phylum. The frequency of Haplogroup C3 tends to be negatively correlated with distance from Mongolia and the Russian Far East, but it still comprises more than ten percent of the total Y-chromosome diversity among the Manchus, Koreans, Ainu, and some Turkic peoples of Central Asia although in a genetic study in 2004, haplogroup C3 was more frequent among Koreans than previously thought (16.5%). Among the Kazakhs, who are a Turkic people of Kazakhstan and neighboring areas in northern Central Asia, Haplogroup C3 once again emerges as the most common haplogroup. Beyond this range of high-to-moderate frequency, which contains mainly the northeast quadrant of Eurasia and the northwest quadrant of North America, Haplogroup C3 continues to be found at low frequencies, and it has even been found as far afield as Northwest Europe, Turkey, Pakistan, Nepal and adjacent regions of India, Vietnam, the Malay Archipelago, and the Wayuu people of South America. Within Japan, haplogroup C3 has been found almost exclusively among Ainus (2/16 = 12.5% or 1/4 = 25%) and among Japanese of the Kyūshū region (4/53 = 7.5%). The frequency of Haplogroup C3 in samples of Han Chinese from various areas has ranged from 0% (0/27 Han from Guangxi) to 22.5% (9/40 Han from Liaoning), with the frequency of this haplogroup in several studies' pools of all Han Chinese samples ranging between 6.0% and 12.0%.

Geographical origin

The extremely broad distribution of Haplogroup C3 Y-chromosomes, coupled with the fact that the ancestral paragroup C* is not found among any of the modern Siberian or North American populations among whom Haplogroup C3 predominates, makes the determination of the geographical origin of the defining M217 mutation exceedingly difficult. The presence of Haplogroup C3 at a low frequency but relatively high diversity throughout East Asia and parts of Southeast Asia makes that region one likely source. In addition, the C3 haplotypes found with high frequency among North Asian populations appear to belong to a different genealogical branch from the C3 haplotypes found with low frequency among East and Southeast Asians, which suggests that the marginal presence of C3 among modern East and Southeast Asian populations may not be due to recent admixture from Northeast or Central Asia.

Subgroups

The subclades of Haplogroup C3 with their defining mutation(s), according to the 2008 ISOGG tree:

• C3 (M217, P44, PK2)
  • C3* Typical of Mongolians, Kazakhs, Buryats, Daurs, Kalmyks, Hazaras, Manchus, Sibes, Oroqens, Koryaks, and Itelmens; with a moderate distribution among other Tungusic peoples, Koreans, Ainus, Nivkhs, Altaians, Tuvinians, and Uzbeks
  • C3a (M93) Observed sporadically in Japanese
  • C3b (P39) Found in several indigenous peoples of North America, including some Na-Dené-, Algonquian-, or Siouan-speaking populations
  • C3c (M48, M77, M86) Typical of Northern Tungusic peoples, Kazakhs, Oirats, Kalmyks, Outer Mongolians, Yukaghirs, Nivkhs, Koryaks, Itelmens, and Udegeys, with a moderate distribution among other Southern Tungusic peoples, Inner Mongolians, Buryats, Tuvinians, Yakuts, Chukchi, Kyrgyz, Uyghurs, Uzbeks, Karakalpaks, and Tajiks
  • C3d (M407) Found with low frequency in Bai, Cambodian, Han Chinese, Manchu, Tujia, Uyghur, and Yakut populations
  • C3e (P53.1) Found in about 10% of Xinjiang Sibe and with low frequency in Inner Mongolian Mongol and Evenk, Ningxia Hui, Xizang Tibetan, Xinjiang Uyghur, and Gansu Han
  • C3f (P62)

External links

• Spread of Haplogroup C3, from The Genographic Project, National Geographic

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups (by ethnic groups · famous haplotypes)

most recent common Y-ancestor

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