Haplogroup C-M217


Haplogroup C-M217, also known as C2, is a Y-chromosome DNA haplogroup. It is the most frequently occurring branch of the wider Haplogroup C. It is found mostly in Central Asia, Eastern Siberia and significant frequencies in parts of East Asia and Southeast Asia including some populations in the Caucasus and Middle East.
The haplogroup C-M217 is now found at high frequencies among Central Asian peoples, indigenous Siberians, and some Native peoples of North America. In particular, males belonging to peoples such as the Buryats, Evens, Evenks, Itelmens, Kalmyks, Kazakhs, Koryaks, Mongolians, Negidals, Nivkhs, Udege, and Ulchi have high levels of M217.
One particular haplotype within Haplogroup C2-M217 has received a great deal of attention, because of the possibility that it may represent direct patrilineal descent from Genghis Khan, though that hypothesis is controversial. According to the recent result, C2's subgroups are divided into C2b and C2e, and in Mongolia, most belong to C2b, while very few are C2e. On the other hand, C2b takes minority and most are C2e in Japan and Korea and Southern East Asia. Its C-M48 subclade, which has been identified as a possible marker of the Manchu Aisin Gioro and has been found in ten different ethnic minorities in northern China, is absent from many Han Chinese populations.

Origin

After sharing a most recent common ancestor with Haplogroup C-F3393 approximately 48,400 years before present, Haplogroup C-M217 is believed to have begun spreading approximately 34,000 years before present in eastern or central Asia.
The extremely broad distribution of Haplogroup C-M217 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 C-M217 predominates, makes the determination of the geographical origin of the defining M217 mutation exceedingly difficult. The presence of Haplogroup C-M217 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 C-M217 haplotypes found with high frequency among North Asian populations appear to belong to a different genealogical branch from the C-M217 haplotypes found with low frequency among East and Southeast Asians, which suggests that the marginal presence of C-M217 among modern East and Southeast Asian populations may not be due to recent admixture from Northeast or Central Asia.
More precisely, haplogroup C-M217 is now divided into two primary subclades, C-F1067 and C-L1373. C-L1373 has been found often in populations from Central Asia through North Asia to the Americas, and rarely in individuals from some neighboring regions, such as Europe or East Asia. C-L1373 includes C-P39, which has been found at high frequency in samples of some indigenous North American populations, and C-M48, which is especially frequent among modern Tungusic peoples. The predominantly East Asian distributed C-F1067 subsumes a major clade, C-F2613, and a minor clade, C-CTS4660. The minor clade C-CTS4660 has been found in China. The major clade C-F2613 has known representatives from China, Korea, Japan, Laos, Thailand, Vietnam, Bhutan, Bangladesh, Mongolia, Kyrgyzstan, Tajikistan, Afghanistan, Pakistan, Nakhchivan, Chechnya, and Syria and includes the populous subclades C-F845, C-CTS2657, and C-Z8440. C-M407, a notable subclade of C-CTS2657, has expanded in a post-Neolithic time frame to include large percentages of modern Buryat, Soyot, and Hamnigan males in Buryatia in addition to many Kalmyks and other Mongols and members of the Qongirat tribe in Kazakhstan.

Distribution

Haplogroup C-M217 is the modal haplogroup among Mongolians and most indigenous populations of the Russian Far East, such as the Northern Tungusic peoples, Koryaks, and Itelmens. The subclade C-P39 is common among males of the indigenous North American peoples whose languages belong to the Na-Dené phylum. The frequency of Haplogroup C-M217 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. Beyond this range of high-to-moderate frequency, which contains mainly the northeast quadrant of Eurasia and the northwest quadrant of North America, Haplogroup C-M217 continues to be found at low frequencies, and it has even been found as far afield as Northwest Europe, Turkey, Pakistan, Bhutan, Bangladesh, Nepal and adjacent regions of India, Vietnam, Maritime Southeast Asia, and the Wayuu people of South America.
In an early study of Japanese Y-chromosomes, haplogroup C-M217 was found relatively frequently among Ainus and among Japanese of the Kyūshū region. However, in other samples of Japanese, the frequency of haplogroup C-M217 was found to be only about one to three percent. In a study published in 2014, large samples of males from seven different Japanese cities were examined, and the frequency of C-M217 varied between a minimum of 5.0% and a maximum of 7.8%, with a total of 6.1% of their sampled Japanese males belonging to this haplogroup; the authors noted that no marked geographical gradient was detected in the frequencies of haplogroups C-M217 or C-M8 in that study.
The frequency of Haplogroup C-M217 in samples of Han from various areas has ranged from 0% in a sample of Han from Guangxi in southern China to 23.5% in a sample of Han from Shanghai in eastern China, 23.5% in a sample of Han from Xi'an in northwestern China, and 29.6% in a sample of Han from Jilin in northeastern China, with the frequency of this haplogroup in several studies' pools of all Han samples ranging between 6.0% and 12.0%. C-M217 also has been found in many samples of ethnic minority populations from central and southern China, such as Dong, Bulang, Tujia, Hani, Yi, Mulao, Naxi, Miao, Shui, She, Wa, Dai, Gelao, ethnic Vietnamese, Yao, Bai, Tibetans, Buyi, and Taiwanese aborigines.
In Vietnam, Y-DNA that belongs to haplogroup C-M217 has been found in about 7.5% of all published samples, including 12.5% of a sample of Vietnamese from Hanoi, Vietnam, 11.8% of another sample of Kinh from Hanoi, Vietnam, 10% of a sample from Vietnam, 8.5% of a sample of Cham people from Binh Thuan, Vietnam, 8.3% of another sample of Vietnamese from Hanoi, 4.3% of a sample of Vietnamese from an unspecified location in Vietnam, 2.2% of the KHV sample of the 1000 Genomes Project, and 0% of one study's samples of Kinh and Muong.
Haplogroup C-M217 has been found less frequently in other parts of Southeast Asia and nearby areas, including Myanmar, Laos, Malaysia, Java, Nepal, Thailand, the Philippines, and Bali.
Although C-M217 is generally found with only low frequency in Tibet and Nepal, there may be an island of relatively high frequency of this haplogroup in Meghalaya, India. The indigenous tribes of this state of Northeast India, where they comprise the majority of the local population, speak Khasian languages or Tibeto-Burman languages. A study published in 2007 found C-M217 Y-DNA in 8.5% of a sample of Garos, who primarily inhabit the Garo Hills in the western half of Meghalaya, and in 7.6% of a pool of samples of eight Khasian tribes from the eastern half of Meghalaya.

Subclade distribution

The subclades of Haplogroup C-M217 with their defining mutation, according to the :
P53.1 has been used in multiple studies, but at testing in the commercial labs it appears in too many parts of the Y tree, including multiple parts of haplogroup C. Listed 16 April 2016.

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. 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.
YCC 2002/2008 ''''''YCC 2002 YCC 2005 YCC 2008 YCC 2010r ISOGG 2006ISOGG 2007ISOGG 2008ISOGG 2009ISOGG 2010ISOGG 2011ISOGG 2012
C-M21610V1F16Eu6H1CC*CCCCCCCCCC
C-M810V1F19Eu6H1CC1C1C1C1C1C1C1C1C1C1C1
C-M3810V1F16Eu6H1CC2*C2C2C2C2C2C2C2C2C2C2
C-P3310V1F18Eu6H1CC2aC2aC2a1C2a1C2aC2aC2a1C2a1C2a1removedremoved
C-P4410V1F17Eu6H1CC3*C3C3C3C3C3C3C3C3C3C3
C-M9310V1F17Eu6H1CC3aC3aC3aC3aC3aC3aC3aC3aC3aC3aC3a1
C-M20810V1F17Eu6H1CC3bC2bC2aC2aC2bC2bC2aC2aC2aC2aC2a
C-M21036V1F17Eu6H1CC3cC2cC4aC4aC4bC4bC4aC4aC4aC4aC4a

Research publications

The following research teams per their publications were represented in the creation of the YCC tree.

Phylogenetic trees

Genetics

Y-DNA C subclades

Y-DNA backbone tree