In
human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochond ...
, Haplogroup Y is a
human mitochondrial DNA (mtDNA) haplogroup
In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolu ...
.
Origin
Haplogroup Y is a descendant of
haplogroup N9.
Distribution
Haplogroup Y has been found with high frequency in many indigenous populations who live around the
Sea of Okhotsk
The Sea of Okhotsk ( rus, Охо́тское мо́ре, Ohótskoye móre ; ja, オホーツク海, Ohōtsuku-kai) is a marginal sea of the western Pacific Ocean. It is located between Russia's Kamchatka Peninsula on the east, the Kuril Islands ...
, including approximately 66% of
Nivkhs
The Nivkh, or Gilyak (also Nivkhs or Nivkhi, or Gilyaks; ethnonym: Нивхгу, ''Nʼivxgu'' (Amur) or Ниғвңгун, ''Nʼiɣvŋgun'' (E. Sakhalin) "the people"), are an indigenous ethnic group inhabiting the northern half of Sakhalin Islan ...
, approximately 43% of
Ulchs
The Ulch people, also known as Ulch or Ulchi, (russian: ульчи, obsolete ольчи; Ulch: , nani) are an indigenous people of the Russian Far East, who speak a Tungusic language known as Ulch. Over 90% of Ulchis live in Ulchsky District ...
,
approximately 40% of
Nanais
The Nanai people are a Tungusic people of East Asia who have traditionally lived along Heilongjiang (Amur), Songhuajiang (Sunggari) and Wusuli River on the Middle Amur Basin. The ancestors of the Nanai were the Jurchens of northernmost Manch ...
, approximately 21% of
Negidals
Negidals (; Negidal language, Negidal: ''элькан бэйэнин'', ''elkan bayenin'', "local people") are a people in the Khabarovsk Krai in Russia, who live along the Amgun River and Amur River.
The ethnonym "Negidal" is a Russification ...
, and approximately 20% of
Ainus.
[M. A. Bermisheva, I. A. Kutuev, V. A. Spitsyn et al., "Analysis of Mitochondrial DNA Variation in the Population of Oroks", Russian Journal of Genetics, Vol. 41, No. 1, 2005, pp. 66–71. Translated from Genetika, Vol. 41, No. 1, 2005, pp. 78–84.][Noboru Adachi, Ken-ichi Shinoda, Kazuo Umetsu, and Hirofumi Matsumura, "Mitochondrial DNA Analysis of Jomon Skeletons From the Funadomari Site, Hokkaido, and Its Implication for the Origins of Native American", American Journal of Physical Anthropology 138:255–265 (2009)] It is also fairly common among indigenous peoples of the
Kamchatka Peninsula
The Kamchatka Peninsula (russian: полуостров Камчатка, Poluostrov Kamchatka, ) is a peninsula in the Russian Far East, with an area of about . The Pacific Ocean and the Sea of Okhotsk make up the peninsula's eastern and we ...
(Koryaks, Itelmens) and among certain
Austronesian peoples
The Austronesian peoples, sometimes referred to as Austronesian-speaking peoples, are a large group of peoples in Taiwan, Maritime Southeast Asia, Micronesia, coastal New Guinea, Island Melanesia, Polynesia, and Madagascar that speak Austro ...
(especially groups closely related to Native Taiwanese).
The distribution of haplogroup Y in populations of the
Malay Archipelago
The Malay Archipelago (Indonesian/Malay: , tgl, Kapuluang Malay) is the archipelago between mainland Indochina and Australia. It has also been called the " Malay world," "Nusantara", "East Indies", Indo-Australian Archipelago, Spices Archipe ...
contrasts starkly with the absence or extreme rarity of this clade in populations of continental
Southeast Asia
Southeast Asia, also spelled South East Asia and South-East Asia, and also known as Southeastern Asia, South-eastern Asia or SEA, is the geographical United Nations geoscheme for Asia#South-eastern Asia, south-eastern region of Asia, consistin ...
in a manner reminiscent of
haplogroup E. However, the frequency of haplogroup Y fades more smoothly away from its maximum around the Sea of Okhotsk in Northeast Asia, being found in approximately 2% of
Koreans
Koreans ( South Korean: , , North Korean: , ; see names of Korea) are an East Asian ethnic group native to the Korean Peninsula.
Koreans mainly live in the two Korean nation states: North Korea and South Korea (collectively and simply refe ...
and in South
Siberia
Siberia ( ; rus, Сибирь, r=Sibir', p=sʲɪˈbʲirʲ, a=Ru-Сибирь.ogg) is an extensive geographical region, constituting all of North Asia, from the Ural Mountains in the west to the Pacific Ocean in the east. It has been a part of ...
n and
Central Asia
Central Asia, also known as Middle Asia, is a subregion, region of Asia that stretches from the Caspian Sea in the west to western China and Mongolia in the east, and from Afghanistan and Iran in the south to Russia in the north. It includes t ...
n populations with an average frequency of 1%.
Diversity of Mitochondrial DNA Lineages in South Siberia
by Derenko1 et al., ''Annals of Human Genetics'' Volume 67 Issue 5 Page 391 - September 2003[Yong-Gang Yao, Qing-Peng Kong, Cheng-Ye Wang ''et al.'', "Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China", ''Mol. Biol. Evol.'' 21(12):2265–2280. 2004]
The Y2 subclade has been observed in 40% (176/440) of a large pool of samples from Nias people
Nias people are an ethnic group native to Nias, an island off the west coast of North Sumatra, Indonesia. In the Nias language, the Nias people are known as Ono Niha, which literally means 'descendants of human'. Nias island is known as ''Tanö N ...
in western Indonesia, ranging from a low of 25% (3/12) among the Zalukhu subpopulation to a high of 52% (11/21) among the Ho subpopulation.[Mannis van Oven, Johannes M Hämmerle, Marja van Schoor ''et al.'', "Unexpected island effects at an extreme: reduced Y-chromosome and mitochondrial DNA diversity in Nias", ''Molecular Biology and Evolution'' (2010) ]
Table of frequencies of mtDNA haplogroup Y
Subclades
Haplogroup Y has been divided into two primary subclades, Y1 and Y2. In a study published in 2016, mtDNA haplogroup Y1a was observed in an Ulchi sampled in Nizhniy Gavan, Lower Amur, whereas mtDNA haplogroup Y2a1 was observed in an Igorot
The indigenous peoples of the Cordillera Mountain Range of northern Luzon, Philippines are often referred to using the exonym Igorot people, or more recently, as the Cordilleran peoples. There are nine main ethnolinguistic groups whose domains ar ...
from Mountain Province, Luzon Island, Philippines (sampled in Singapore) and in a Hawaiian.[Swapan Mallick, Heng Li, Mark Lipson, ''et al.'', "The Simons Genome Diversity Project: 300 genomes from 142 diverse populations." ''Nature'' 538, 201–206 (13 October 2016) doi:10.1038/nature18964]
Y1 predominates in the Northeast Asian range of haplogroup Y, which is centered on the Sea of Okhotsk
The Sea of Okhotsk ( rus, Охо́тское мо́ре, Ohótskoye móre ; ja, オホーツク海, Ohōtsuku-kai) is a marginal sea of the western Pacific Ocean. It is located between Russia's Kamchatka Peninsula on the east, the Kuril Islands ...
. Y1* has been observed in two Uyghurs
The Uyghurs; ; ; ; zh, s=, t=, p=Wéiwú'ěr, IPA: ( ), alternatively spelled Uighurs, Uygurs or Uigurs, are a Turkic ethnic group originating from and culturally affiliated with the general region of Central and East Asia. The Uyghur ...
, a Minnan Han Chinese in Taiwan, and a Khamnigan
The Khamnigan, Hamnigan Mongols, or the Tungus Evenki, are a Tungusic- Mongolic ethnic (sub)group of Mongolized Evenks.
Khamnigan is the Buriat- Mongolian term for all Ewenkis. In the early 16th century, the Evenks of Transbaikalia or Khamnigan ...
. Y1a* has been observed in a Nivkh
Nivkh or Amuric or Gilyak may refer to:
* Nivkh people
The Nivkh, or Gilyak (also Nivkhs or Nivkhi, or Gilyaks; ethnonym: Нивхгу, ''Nʼivxgu'' (Amur) or Ниғвңгун, ''Nʼiɣvŋgun'' (E. Sakhalin) "the people"), are an indigenous et ...
, in a Buryat in Zabaikal, in Mongolia, in a Daur and a Han Chinese in China, and in Tibet. Y1a with an additional T16189C mutation is common among the Nivkhs and among several Tungusic peoples (Hezhen in the PRC, Ulchi, Udegey, Even in the basins of the Kolyma
Kolyma (russian: Колыма́, ) is a region located in the Russian Far East. It is bounded to the north by the East Siberian Sea and the Arctic Ocean, and by the Sea of Okhotsk to the south. The region gets its name from the Kolyma River an ...
and Indigirka
The Indigirka ( rus, Индиги́рка, r=; sah, Индигиир, translit=Indigiir) is a river in the Sakha Republic in Russia between the Yana (river), Yana to the west and the Kolyma River, Kolyma to the east. It is long. The area of its ...
rivers). Y1a1 has been observed in at least five Uyghurs
The Uyghurs; ; ; ; zh, s=, t=, p=Wéiwú'ěr, IPA: ( ), alternatively spelled Uighurs, Uygurs or Uigurs, are a Turkic ethnic group originating from and culturally affiliated with the general region of Central and East Asia. The Uyghur ...
, a Kyrgyz, a Buryat in Buryat Republic, a Hezhen
The Nanai people are a Tungusic people of East Asia who have traditionally lived along Heilongjiang (Amur), Songhuajiang (Sunggari) and Wusuli River on the Middle Amur Basin. The ancestors of the Nanai were the Jurchens of northernmost Manch ...
in China, an Udegey, three Evenks in Taimyr, and two Yakuts in central Sakha Republic. Y1a2 has been observed in Koryaks and in an Even in Kamchatka. Y1a appears to be a relatively young haplogroup, with an age of 6,000 (95% CI 3,300 <-> 8,800) years estimated from 13 complete genomes (Ulchi x 6, Nivkh x 3, Koryak x 2, Even x 1, Mongolian x 1); however, this estimate may be relevant only for the TMRCA of Y1a2 and most Y1a* and Y1a-T16189C haplotypes, as it is not certain that any of the Y1a mtDNAs that have been analyzed belong to the Y1a1 clade.[Rem I. Sukernik, Natalia V. Volodko, Ilya O. Mazunin, Nikolai P. Eltsov, Stanislav V. Dryomov, and Elena B. Starikovskaya, "Mitochondrial Genome Diversity in the Tubalar, Even, and Ulchi: Contribution to Prehistory of Native Siberians and Their Affinities to Native Americans." ''American Journal of Physical Anthropology'' 148:123–138 (2012). DOI 10.1002/ajpa.22050] (However, YFull has estimated the TMRCA of the entire Y1a clade, including all tabulated members of Y1a1 and Y1a* as well as Y1a+T16189C and Y1a2, to be 6,300 9,800">5% CI 3,800 <-> 9,800ybp,[YFull MTree 1.02.8328 (as of 11 March 2021)](_blank)
/ref> so the addition of members of the Y1a1 subclade apparently does not significantly affect the estimate of the time to most recent common ancestor of the Y1a clade.) Y1b has been observed in a Tatar from Buinsk, Y1b1 has been observed in China, and Y1b1a has been observed in China and in Japan. The age of the entire Y1 clade has been estimated from 17 complete genomes (including the 13 aforementioned members of the Y1a clade plus one Japanese, one Chinese, and one Tatar member of the Y1b clade plus one Khamnigan member of Y1*) to be 12,400 (95% CI 5,900 <-> 19,100) ybp.
Y2a predominates in the Southeast Asian range of haplogroup Y, which is centered on the Philippines
The Philippines (; fil, Pilipinas, links=no), officially the Republic of the Philippines ( fil, Republika ng Pilipinas, links=no),
* bik, Republika kan Filipinas
* ceb, Republika sa Pilipinas
* cbk, República de Filipinas
* hil, Republ ...
and Sumatra
Sumatra is one of the Sunda Islands of western Indonesia. It is the largest island that is fully within Indonesian territory, as well as the sixth-largest island in the world at 473,481 km2 (182,812 mi.2), not including adjacent i ...
. However, Y2b has been observed in Japan
Japan ( ja, 日本, or , and formally , ''Nihonkoku'') is an island country in East Asia. It is situated in the northwest Pacific Ocean, and is bordered on the west by the Sea of Japan, while extending from the Sea of Okhotsk in the north ...
and in a Buryat, and Y2* has been observed in Chinese, Japanese, and Khamnigan samples.
Tree
This phylogenetic tree of haplogroup Y subclades is based on the paper by Mannis van Oven and Manfred Kayser ''Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation'' and subsequent published research.
*Y
**Y1
***Y1a
***Y1b
**Y2
***Y2a
***Y2b
See also
*Genealogical DNA test
A genealogical DNA test is a DNA-based test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixt ...
*Genetic genealogy
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used b ...
*Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochond ...
*Population genetics
Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and pop ...
{{mtDNA
References
External links
*Ian Logan'
Mitochondrial DNA Site
*Mannis van Oven'
Phylotree
Y