Haplogroup C3 (Y-DNA)
Encyclopedia
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
.
, 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.
, 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%.
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.
Human genetics
Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...
, Haplogroup C3 (M217, P44) is a Y-chromosome DNA haplogroup
Human Y-chromosome DNA haplogroups
In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
mainly found in indigenous Siberians
Indigenous peoples of Siberia
Including the Russian Far East, the population of Siberia numbers just above 40 million people.As a result of the 17th to 19th century Russian conquest of Siberia and the subsequent population movements during the Soviet era, the demographics of Siberia today is dominated by native speakers of...
, Kazakhs
Kazakhs
The Kazakhs are a Turkic people of the northern parts of Central Asia ....
and Mongolians. Haplogroup C3 is the most widespread and frequently occurring branch of the greater Haplogroup C
Haplogroup C (Y-DNA)
In human genetics, Haplogroup C is a Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, M216, P184, P255, and P260, which are all SNP mutations. It is a sibling clade of Haplogroup F, within the more ancient grouping of Haplogroup CF...
(M130). One particular haplotype
Haplotype
A haplotype in genetics is a combination of alleles at adjacent locations on the chromosome that are transmitted together...
within Haplogroup C3 has received a great deal of attention for the possibility that it may represent direct patrilineal descent from Genghis Khan
Descent from Genghis Khan
Descent from Genghis Khan is traceable primarily in Central Asia. His four sons and other immediate descendants are famous by names and by deeds. Later Asian potentates attempted to claim descent from the House of Borjigin even on flimsy grounds. In the 14th century, valid sources all but dried...
.
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 JapanJapan
Japan is an island nation in East Asia. Located in the Pacific Ocean, it lies to the east of the Sea of Japan, China, North Korea, South Korea and Russia, stretching from the Sea of Okhotsk in the north to the East China Sea and Taiwan in the south...
, which suggests an origin in the Jōmon people of the prehistoric Japanese Archipelago
Japanese Archipelago
The , which forms the country of Japan, extends roughly from northeast to southwest along the northeastern coast of the Eurasia mainland, washing upon the northwestern shores of the Pacific Ocean...
. Second, Haplogroup C2 appears to have expanded throughout East Indonesia, Melanesia
Melanesia
Melanesia is a subregion of Oceania extending from the western end of the Pacific Ocean to the Arafura Sea, and eastward to Fiji. The region comprises most of the islands immediately north and northeast of Australia...
, Micronesia
Micronesia
Micronesia is a subregion of Oceania, comprising thousands of small islands in the western Pacific Ocean. It is distinct from Melanesia to the south, and Polynesia to the east. The Philippines lie to the west, and Indonesia to the southwest....
, and Polynesia
Polynesia
Polynesia is a subregion of Oceania, made up of over 1,000 islands scattered over the central and southern Pacific Ocean. The indigenous people who inhabit the islands of Polynesia are termed Polynesians and they share many similar traits including language, culture and beliefs...
after the hybridization of Austronesian colonists, ultimately from the Asian mainland, with pre-existing Melanesians
Melanesians
Melanesians are an ethnic group in Melanesia. The original inhabitants of the group of islands now named Melanesia were likely the ancestors of the present-day Papuan-speaking people...
. Third, Haplogroup C4 is the predominant male lineage among the indigenous Australians
Indigenous Australians
Indigenous Australians are the original inhabitants of the Australian continent and nearby islands. The Aboriginal Indigenous Australians migrated from the Indian continent around 75,000 to 100,000 years ago....
. Finally, Haplogroup C5 is found at a low frequency in South Asia
South Asia
South Asia, also known as Southern Asia, is the southern region of the Asian continent, which comprises the sub-Himalayan countries and, for some authorities , also includes the adjoining countries to the west and the east...
, Southwest Asia
Southwest Asia
Western Asia, West Asia, Southwest Asia or Southwestern Asia are terms that describe the westernmost portion of Asia. The terms are partly coterminous with the Middle East, which describes a geographical position in relation to Western Europe rather than its location within Asia...
, and Central Asia
Central Asia
Central Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north...
. 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 EastRussian Far East
Russian Far East is a term that refers to the Russian part of the Far East, i.e., extreme east parts of Russia, between Lake Baikal in Eastern Siberia and the Pacific Ocean...
, such as the Northern Tungusic peoples, Koryaks
Koryaks
Koryaks are an indigenous people of Kamchatka Krai in the Russian Far East, who inhabit the coastlands of the Bering Sea to the south of the Anadyr basin and the country to the immediate north of the Kamchatka Peninsula, the southernmost limit of their range being Tigilsk. They are akin to the...
, Itelmens
Itelmens
The Itelmen, sometimes known as Kamchadal, are an ethnic group who are the original inhabitants living on the Kamchatka Peninsula in Russia. The Itelmen language is distantly related to Chukchi and Koryak, forming the Chukotko-Kamchatkan language family, but it is now virtually extinct, the vast...
, and Nivkhs
Nivkhs
The Nivkh are an indigenous ethnic group inhabiting the northern half of Sakhalin Island and the region of the Amur River estuary in Russia's Khabarovsk Krai. Nivkh were mainly fishermen, hunters, and dog breeders...
. The subclade
Subclade
In genetics, subclade is a term used to describe a subgroup of a subgenus or haplogroup. It is commonly used today in describing genealogical DNA tests of human mitochondrial DNA haplogroups and human Y-chromosome DNA haplogroups....
C3b-P39 is quite common among males of the indigenous North American peoples whose languages belong to the Na-Dené
Na-Dené languages
Na-Dene is a Native American language family which includes at least the Athabaskan languages, Eyak, and Tlingit languages. An inclusion of Haida is controversial....
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
Korean people
The Korean people are an ethnic group originating in the Korean peninsula and Manchuria. Koreans are one of the most ethnically and linguistically homogeneous groups in the world.-Names:...
, Ainu
Ainu people
The , also called Aynu, Aino , and in historical texts Ezo , are indigenous people or groups in Japan and Russia. Historically they spoke the Ainu language and related varieties and lived in Hokkaidō, the Kuril Islands, and much of Sakhalin...
, and some Turkic peoples
Turkic peoples
The Turkic peoples are peoples residing in northern, central and western Asia, southern Siberia and northwestern China and parts of eastern Europe. They speak languages belonging to the Turkic language family. They share, to varying degrees, certain cultural traits and historical backgrounds...
of Central Asia
Central Asia
Central Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north...
although in a genetic study in 2004, haplogroup C3 was more frequent among Koreans than previously thought (16.5%). Among the Kazakhs
Kazakhs
The Kazakhs are a Turkic people of the northern parts of Central Asia ....
, 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
Nepal
Nepal , officially the Federal Democratic Republic of Nepal, is a landlocked sovereign state located in South Asia. It is located in the Himalayas and bordered to the north by the People's Republic of China, and to the south, east, and west by the Republic of India...
and adjacent regions of India
India
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...
, Vietnam, the Malay Archipelago
Malay Archipelago
The Malay Archipelago refers to the archipelago between mainland Southeastern Asia and Australia. The name was derived from the anachronistic concept of a Malay race....
, and the Wayuu people
Wayuu
Wayuu is an Amerindian ethnic group of the La Guajira Peninsula in northern Colombia and northwest Venezuela. They are part of the Maipurean language family.- Geography :...
of South America. Within Japan, haplogroup C3 has been found almost exclusively among Ainus
Ainu people
The , also called Aynu, Aino , and in historical texts Ezo , are indigenous people or groups in Japan and Russia. Historically they spoke the Ainu language and related varieties and lived in Hokkaidō, the Kuril Islands, and much of Sakhalin...
(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
Han Chinese
Han Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the...
from various areas has ranged from 0% (0/27 Han from Guangxi
Guangxi
Guangxi, formerly romanized Kwangsi, is a province of southern China along its border with Vietnam. In 1958, it became the Guangxi Zhuang Autonomous Region of the People's Republic of China, a region with special privileges created specifically for the Zhuang people.Guangxi's location, in...
) to 22.5% (9/40 Han from Liaoning
Liaoning
' is a province of the People's Republic of China, located in the northeast of the country. Its one-character abbreviation is "辽" , a name taken from the Liao River that flows through the province. "Níng" means "peace"...
), 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 AsiaEast Asia
East Asia or Eastern Asia is a subregion of Asia that can be defined in either geographical or cultural terms...
and parts of Southeast Asia
Southeast Asia
Southeast Asia, South-East Asia, South East Asia or Southeastern Asia is a subregion of Asia, consisting of the countries that are geographically south of China, east of India, west of New Guinea and north of Australia. The region lies on the intersection of geological plates, with heavy seismic...
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, KazakhsKazakhsThe Kazakhs are a Turkic people of the northern parts of Central Asia ....
, BuryatsBuryatsThe Buryats or Buriyads , numbering approximately 436,000, are the largest ethnic minority group in Siberia and are mainly concentrated in their homeland, the Buryat Republic, a federal subject of Russia...
, Daurs, Kalmyks, Hazaras, ManchuManchuThe Manchu people or Man are an ethnic minority of China who originated in Manchuria . During their rise in the 17th century, with the help of the Ming dynasty rebels , they came to power in China and founded the Qing Dynasty, which ruled China until the Xinhai Revolution of 1911, which...
s, SibesXibeThe Xibe or Sibo are a Tungusic ethnic group living mostly in northeast China and Xinjiang. They form one of the 56 ethnic groups officially recognized by the People's Republic of China.- History :...
, OroqenOroqenThe Oroqen people are an ethnic group in northern China. They form one of the 56 ethnic groups officially recognized by the People's Republic of China. According to the 2000 Census, 44.54% live in Inner Mongolia and 51.52% along the Heilongjiang River in the province of Heilongjiang...
s, KoryaksKoryaksKoryaks are an indigenous people of Kamchatka Krai in the Russian Far East, who inhabit the coastlands of the Bering Sea to the south of the Anadyr basin and the country to the immediate north of the Kamchatka Peninsula, the southernmost limit of their range being Tigilsk. They are akin to the...
, and ItelmensItelmensThe Itelmen, sometimes known as Kamchadal, are an ethnic group who are the original inhabitants living on the Kamchatka Peninsula in Russia. The Itelmen language is distantly related to Chukchi and Koryak, forming the Chukotko-Kamchatkan language family, but it is now virtually extinct, the vast...
; with a moderate distribution among other Tungusic peoples, Koreans, AinusAinu peopleThe , also called Aynu, Aino , and in historical texts Ezo , are indigenous people or groups in Japan and Russia. Historically they spoke the Ainu language and related varieties and lived in Hokkaidō, the Kuril Islands, and much of Sakhalin...
, NivkhsNivkhsThe Nivkh are an indigenous ethnic group inhabiting the northern half of Sakhalin Island and the region of the Amur River estuary in Russia's Khabarovsk Krai. Nivkh were mainly fishermen, hunters, and dog breeders...
, AltaiansAltay peopleThe Altay or Altai are an ethnic group of Turkic people living in the Siberian Altai Republic and Altai Krai and surrounding areas of Tuva and Mongolia. For alternative ethnonyms see also Teleut, Tele, Telengit, Mountain Kalmuck, White Kalmuck, Black Tatar, Oirat/Oirot.The Uriankhai people were...
, Tuvinians, and UzbeksUzbeksThe Uzbeks are a Turkic ethnic group in Central Asia. They comprise the majority population of Uzbekistan, and large populations can also be found in Afghanistan, Tajikstan, Kyrgyzstan, Turkmenistan, Kazakhstan, Russia, Pakistan, Mongolia and the Xinjiang Uyghur Autonomous Region of China... - C3a (M93) Observed sporadically in JapaneseJapanese peopleThe are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries...
- C3b (P39) Found in several indigenous peoples of North America, including some Na-DenéNa-Dené languagesNa-Dene is a Native American language family which includes at least the Athabaskan languages, Eyak, and Tlingit languages. An inclusion of Haida is controversial....
-, AlgonquianAlgonquian languagesThe Algonquian languages also Algonkian) are a subfamily of Native American languages which includes most of the languages in the Algic language family. The name of the Algonquian language family is distinguished from the orthographically similar Algonquin dialect of the Ojibwe language, which is a...
-, or SiouanSiouan languagesThe Western Siouan languages, also called Siouan proper or simply Siouan, are a Native American language family of North America, and the second largest indigenous language family in North America, after Algonquian...
-speaking populations - C3c (M48, M77, M86) Typical of Northern Tungusic peoples, KazakhsKazakhsThe Kazakhs are a Turkic people of the northern parts of Central Asia ....
, OiratsOiratsOirats are the westernmost group of the Mongols who unified several tribes origin whose ancestral home is in the Altai region of western Mongolia. Although the Oirats originated in the eastern parts of Central Asia, the most prominent group today is located in the Republic of Kalmykia, a federal...
, KalmyksKalmyk peopleKalmyk people is the name given to the Oirats, western Mongols in Russia, whose descendants migrated from Dzhungaria in 1607. Today they form a majority in the autonomous Republic of Kalmykia on the western shore of the Caspian Sea. Kalmykia is Europe's only Buddhist government...
, Outer MongoliaOuter MongoliaOuter Mongolia was a territory of the Qing Dynasty = the Manchu Empire. Its area was roughly equivalent to that of the modern state of Mongolia, which is sometimes informally called "Outer Mongolia" today...
ns, Yukaghirs, NivkhsNivkhsThe Nivkh are an indigenous ethnic group inhabiting the northern half of Sakhalin Island and the region of the Amur River estuary in Russia's Khabarovsk Krai. Nivkh were mainly fishermen, hunters, and dog breeders...
, KoryaksKoryaksKoryaks are an indigenous people of Kamchatka Krai in the Russian Far East, who inhabit the coastlands of the Bering Sea to the south of the Anadyr basin and the country to the immediate north of the Kamchatka Peninsula, the southernmost limit of their range being Tigilsk. They are akin to the...
, ItelmensItelmensThe Itelmen, sometimes known as Kamchadal, are an ethnic group who are the original inhabitants living on the Kamchatka Peninsula in Russia. The Itelmen language is distantly related to Chukchi and Koryak, forming the Chukotko-Kamchatkan language family, but it is now virtually extinct, the vast...
, and Udegeys, with a moderate distribution among other Southern Tungusic peoples, Inner Mongolians, BuryatsBuryatsThe Buryats or Buriyads , numbering approximately 436,000, are the largest ethnic minority group in Siberia and are mainly concentrated in their homeland, the Buryat Republic, a federal subject of Russia...
, Tuvinians, YakutsYakutsYakuts , are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages....
, ChukchiChukchi peopleThe Chukchi, or Chukchee , ) are an indigenous people inhabiting the Chukchi Peninsula and the shores of the Chukchi Sea and the Bering Sea region of the Arctic Ocean within the Russian Federation. They speak the Chukchi language...
, Kyrgyz, UyghursUyghur peopleThe Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China...
, UzbeksUzbeksThe Uzbeks are a Turkic ethnic group in Central Asia. They comprise the majority population of Uzbekistan, and large populations can also be found in Afghanistan, Tajikstan, Kyrgyzstan, Turkmenistan, Kazakhstan, Russia, Pakistan, Mongolia and the Xinjiang Uyghur Autonomous Region of China...
, KarakalpaksKarakalpaksThe Karakalpaks are a Turkic speaking people. They mainly live in the lower reaches of the Amu Darya and in the delta of Amu Darya on the southern shore of the Aral Sea in Uzbekistan. The name "Karakalpak" comes from two words: "qara" meaning black, and "qalpaq" meaning hat...
, and Tajiks - C3d (M407) Found with low frequency in Bai, CambodiaCambodiaCambodia , officially known as the Kingdom of Cambodia, is a country located in the southern portion of the Indochina Peninsula in Southeast Asia...
n, Han ChineseHan ChineseHan Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the...
, ManchuManchuThe Manchu people or Man are an ethnic minority of China who originated in Manchuria . During their rise in the 17th century, with the help of the Ming dynasty rebels , they came to power in China and founded the Qing Dynasty, which ruled China until the Xinhai Revolution of 1911, which...
, Tujia, UyghurUyghur peopleThe Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China...
, and YakutYakutsYakuts , are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages....
populations - C3e (P53.1) Found in about 10% of Xinjiang SibeXibeThe Xibe or Sibo are a Tungusic ethnic group living mostly in northeast China and Xinjiang. They form one of the 56 ethnic groups officially recognized by the People's Republic of China.- History :...
and with low frequency in Inner Mongolian Mongol and EvenkEvenksThe Evenks are a Tungusic people of Northern Asia. In Russia, the Evenks are recognized as one of the Indigenous peoples of the Russian North, with a population of 35,527...
, Ningxia HuiHui peopleThe Hui people are an ethnic group in China, defined as Chinese speaking people descended from foreign Muslims. They are typically distinguished by their practice of Islam, however some also practice other religions, and many are direct descendants of Silk Road travelers.In modern People's...
, Xizang Tibetan, Xinjiang UyghurUyghur peopleThe Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China...
, and Gansu HanHan ChineseHan Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the... - C3f (P62)
- C3* Typical of Mongolians, Kazakhs
External links
- Spread of Haplogroup C3, from The Genographic ProjectThe Genographic ProjectThe Genographic Project, launched on April 13, 2005 by the National Geographic Society and IBM, is a multi-year genetic anthropology study that aims to map historical human migration patterns by collecting and analyzing DNA samples from hundreds of thousands of people from around the...
, National Geographic