Haplogroup C-M130


Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations. It is one of two primary branches of Haplogroup CF alongside Haplogroup F. Haplogroup C is found in ancient populations on every continent except Africa and is the predominant Y-DNA haplogroup among males belonging to many peoples indigenous to East Asia, Central Asia, Siberia, North America and Australia as well as ancient and modern populations in Europe, the Levant, and Japan. The haplogroup is also found with moderate to low frequency among many present-day populations of Southeast Asia, South Asia, and Southwest Asia.
In addition to the basal paragroup C*, this haplogroup now has two major branches: C1 and C2.

Origins

Haplogroup C-M130 seems to have come into existence shortly after SNP mutation M168 occurred for the first time, bringing the modern Haplogroup CT into existence, from which Haplogroup CF, and in turn Haplogroup C, derived. This was probably at least 60,000 years ago.
Haplogroup C-M130 attains its highest frequencies among the indigenous populations of Kazakhstan, Mongolia, the Russian Far East, Polynesia, Australia, and at moderate frequency in Korea and Manchu people. It is therefore hypothesized that Haplogroup C-M130 either originated or underwent its longest period of evolution in the greater Central Asian region or in Southwest Asian coastal regions. Its expansion in East Asia is suggested to have started approximately 40,000 years ago.
Males carrying C-M130 are believed to have migrated to the Americas some 6,000-8,000 years ago, and was carried by Na-Dené-speaking peoples into the northwest Pacific coast of North America.
Asia is also the area in which Haplogroup D-M174 is concentrated. However, D-M174 is more closely related to haplogroup E than to C-M130 and the geographical distributions of Haplogroups C-M130 and D-M174 are entirely and utterly different, with various subtypes of Haplogroup C-M130 being found at high frequency amongst modern Kazakhs and Mongolians as well as in some Indigenous peoples of the Americas, Manchurians. It is also found at a medium frequency in Koreans, indigenous inhabitants of the Russian Far East, Aboriginal Australians and at moderate frequencies elsewhere throughout Asia and Oceania including Southeast Asia. Carriers of Haplogroup C among the ancient Jōmon people of Japan and Paleolithic and Neolithic Europeans exclusively carried C1a. Whereas Haplogroup D is found at high frequencies only amongst Tibetans, Japanese peoples, and Andaman Islanders, and has been found neither in India nor among the aboriginal inhabitants of the Americas or Oceania.
According to Sakitani et al., haplogroup C-M130 originated in Western Asia and spread from there into other parts of Eurasia and into parts of Australia. It is suggested that C-M130 was found in Eastern Eurasian hunter gatherers as well as in ancient samples of East and Southeast Asia.

Structure

C*
The distribution of Haplogroup C-M130 is generally limited to populations of Siberia, parts of East Asia, Oceania, and the Americas. Due to the tremendous age of Haplogroup C, numerous secondary mutations have had time to accumulate, and many regionally important subbranches of Haplogroup C-M130 have been identified.
Up to 46% of Aboriginal Australian males carried either basal C*, C1b2b* or C1b2b1, before contact with and significant immigration by Europeans, according to a 2015 study by Nagle et al. That is, 20.0% of the Y-chromosomes of 657 modern individuals, before 56% of those samples were excluded as "non-indigenous". C-M130* was apparently carried by up to 2.7% of Aboriginal males before colonisation; 43% carried C-M347, which has not been found outside Australia. The other haplogroups of Aboriginal Australians is similar to Papuans or other Negritos.
Low levels of C-M130* are carried by males:
C1b was identified in prehistoric remains, dating from 34,000 years BP, found in Russia and known as "Kostenki 14".
Haplogroup C2 – the most numerous and widely dispersed C lineage – which is believed to have originated in Southwest/Central Asia, spread from there into Northern Asia and the Americas. C-M217 stretches longitudinally from Central Europe and Turkey, to the Wayuu people of Colombia and Venezuela, and latitudinally from the Athabaskan peoples of Alaska to Vietnam to the Malay Archipelago. Found at low concentrations in Eastern Europe, where it may be a legacy of the invasions/migrations of the Huns, Turks and/or Mongols during the Middle Ages. Found at especially high frequencies in Buryats, Daurs, Hazaras, Itelmens, Kalmyks, Koryaks, Manchus, Mongolians, Oroqens, and Sibes, with a moderate distribution among other Tungusic peoples, Koreans, Ainus, Nivkhs, Altaians, Tuvinians, Uzbeks, Han Chinese, Tujia, Hani, and Hui. The highest frequencies of Haplogroup C-M217 are found among the populations of Mongolia and Far East Russia, where it is the modal haplogroup. Haplogroup C-M217 is the only variety of Haplogroup C-M130 to be found among Native Americans, among whom it reaches its highest frequency in Na-Dené populations.
Other subclades are specific to certain populations, within a restricted geographical range; even where these other branches are found, they tend to appear as a very low-frequency, minor component of the palette of Y-chromosome diversity within those territories:

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. 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.

Notable members

One particular haplotype within Haplogroup C-M217 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan.
A research paper published in 2017 - "Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty" confirmed that the Aisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster.

Genetics

Y-DNA C Subclades

Y-DNA backbone tree