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. Mitochondria ...

, Haplogroup Y is a human mitochondrial DNA (mtDNA) haplogroup.

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, including approximately 66% of Nivkhs, approximately 43% of Ulchs, approximately 40% of Nanais, approximately 21% of Negidals, and approximately 20% of Ainus. 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 (, ) 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 western coastlines, respectively. Immediately offshore along the Pacific ...

(Koryaks, Itelmens) and among certain

Austronesian peoples The Austronesian people, sometimes referred to as Austronesian-speaking peoples, are a large group of peoples who have settled in Taiwan, maritime Southeast Asia, parts of mainland Southeast Asia, Micronesia, coastal New Guinea, Island Melan ...

(especially groups closely related to Native Taiwanese). The distribution of haplogroup Y in populations of the

Malay Archipelago The Malay Archipelago is the archipelago between Mainland Southeast Asia and Australia, and is also called Insulindia or the Indo-Australian Archipelago. The name was taken from the 19th-century European concept of a Malay race, later based ...

contrasts starkly with the absence or extreme rarity of this clade in populations of continental

Southeast Asia Southeast Asia is the geographical United Nations geoscheme for Asia#South-eastern Asia, southeastern region of Asia, consisting of the regions that are situated south of China, east of the Indian subcontinent, and northwest of the Mainland Au ...

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 are an East Asian ethnic group native to the Korean Peninsula. The majority of Koreans live in the two Korean sovereign states of North and South Korea, which are collectively referred to as Korea. As of 2021, an estimated 7.3 m ...

and in South

Siberia Siberia ( ; , ) is an extensive geographical region comprising all of North Asia, from the Ural Mountains in the west to the Pacific Ocean in the east. It has formed a part of the sovereign territory of Russia and its predecessor states ...

n and

Central Asia Central Asia is a region of Asia consisting of Kazakhstan, Kyrgyzstan, Tajikistan, Turkmenistan, and Uzbekistan. The countries as a group are also colloquially referred to as the "-stans" as all have names ending with the Persian language, Pers ...

n populations with an average frequency of 1%. The Y2 subclade has been observed in 40% (176/440) of a large pool of samples from Nias people 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 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. Y1* has been observed in two

Uyghurs The Uyghurs,. alternatively spelled Uighurs, Uygurs or Uigurs, are a Turkic peoples, Turkic ethnic group originating from and culturally affiliated with the general region of Central Asia and East Asia. The Uyghurs are recognized as the ti ...

, a Minnan Han Chinese in Taiwan, and a Khamnigan. Y1a* has been observed in a Nivkh, in a Buryat in Zabaikal, in Mongolia, in a Daur and a Han Chinese in China, in Korea 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 and Indigirka rivers). Y1a1 has been observed in at least five

, a Kyrgyz, a Buryat in Buryat Republic, a Hezhen 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. (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 5% CI 3,800 <-> 9,800ybp,YFull MTree 1.02.8328 (as of 11 March 2021)
/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, officially the Republic of the Philippines, is an Archipelagic state, archipelagic country in Southeast Asia. Located in the western Pacific Ocean, it consists of List of islands of the Philippines, 7,641 islands, with a tot ...

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 list of islands by area, sixth-largest island in the world at 482,286.55 km2 (182,812 mi. ...

. However, Y2b has been observed in

Japan Japan is an island country in East Asia. Located in the Pacific Ocean off the northeast coast of the Asia, Asian mainland, it is bordered on the west by the Sea of Japan and extends from the Sea of Okhotsk in the north to the East China Sea ...

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 - South Siberia, China, Korea *** Y1a - Nivkh, Ulchi, Hezhen **** Y1a1 - China (Beijing, Liaoning) **** Y1a-T16189C! ***** Y1a2 *** Y1b - Korea, China (

North China North China () is a list of regions of China, geographical region of the People's Republic of China, consisting of five province-level divisions of China, provincial-level administrative divisions, namely the direct-administered municipalities ...

Northeast China Northeast China () is a geographical region of China, consisting officially of three provinces Liaoning, Jilin and Heilongjiang. The heartland of the region is the Northeast China Plain, the largest plain in China with an area of over . The regi ...

) **** Y1b1 - Korea, China ***** Y1b1a - Korea ** Y2 *** Y2a - Philippines, Indonesia **** Y2a1 ***** Y2a1a *** Y2b - Korea, Japan

References

Works cited

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