Haplogroup Y
Possible time of origin11,800 to 33,300 YBP
Possible place of originNortheast Asia
AncestorN9
DescendantsY1, Y2
Defining mutations8392 10398 14178 14693 16126 16223 16231[1]

In human mitochondrial genetics, 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,[2] approximately 40% of Nanais, approximately 21% of Negidals, and approximately 20% of Ainus.[3][4][5][6][7] It is also fairly common among indigenous peoples of the Kamchatka Peninsula (Koryaks, Itelmens) and among certain Austronesian peoples (especially groups closely related to Native Taiwanese).

The distribution of haplogroup Y in populations of the Malay Archipelago contrasts starkly with the absence or extreme rarity of this clade in populations of continental Southeast Asia 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[4] and in South Siberian and Central Asian populations with an average frequency of 1%.[8][9]

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.[10]

Table of frequencies of mtDNA haplogroup Y

Population Frequency Count Source Subtypes
Nivkh (northern Sakhalin)0.66156Starikovskaya 2005Y1=37
Nivkh (northern Sakhalin)0.65838Duggan 2013Y1a=25
Ulchi (Old Bulava, New Bulava, Bogorodskoe, and Nizhniy Gavan villages)0.431160Sukernik 2012Y1a=69
Hezhen (China)0.40010HGDP ( Lippold 2014)Y1a=4
Indonesian (Nias)0.400440Y2=176
Ulch (Old and New Bulava)0.37987Starikovskaya 2005Y1=33
Negidal0.21233Starikovskaya 2005Y1=7
Ainu0.19651[5]Y1=10
Indonesian (Medan, Sumatra)0.16742Hill 2006Y2=7
Filipino (Palawan)0.15020Scholes 2011Y2=3
Even (Berezovka)0.13315Duggan 2013Y1a=2
Filipino0.12962Hill 2007Y2=8
Evenk (Taimyr)0.12524Duggan 2013Y1a=3
Koryak0.097155Starikovskaya 2005Y=15
Evenk (Buryatia)0.08945Derenko 2007Y=4
Udegey (Gvasiugi, Imeni Lazo, Khabarovsk Krai)0.08746Starikovskaya 2005Y1=4
Filipino (Mindanao)0.07170Tabbada 2010Y2=5
Udegey (Gvasyugi, Khabarovsk Krai)0.06531Duggan 2013Y1a=2
Filipino0.06364Tabbada 2010Y2=4
Indonesian (Pekanbaru, Sumatra)0.05852Hill 2006Y2=3
Bukharan Arab (Uzbekistan/Kyrgyzstan)0.05020Comas 2004Y=1
Kazakh (Uzbekistan/Kyrgyzstan)0.05020Comas 2004Y=1
Tajik (Uzbekistan/Kyrgyzstan)0.05020Comas 2004Y=1
Orok (Sakhalin)0.04961Bermisheva 2005Y=3
Even (Eveno-Bytantaysky & Momsky)0.048105Fedorova 2013Y1a=5
Filipino (Luzon)0.045177Tabbada 2010Y2=8
Itelmen0.04347Starikovskaya 2005Y=2
Batak (Palawan)0.03231Scholes 2011Y2=1
Gelao (Daozhen County, Guizhou)0.03231Li 2007Y1=1
Hani (Xishuangbanna, Yunnan)0.03033Wen 2004Y=1
Khamnigan (Buryatia)0.03099Derenko 2007Y=3
Korean0.029346Maruyama 2003Y=10
Evenk (Krasnoyarsk)0.02773Derenko 2007Y=2
Yakut (Vilyuy River basin)0.027111Fedorova 2013Y1a=3
Even (Kamchatka)0.02639Duggan 2013Y1a=1
Tajik (Tajikistan)0.02344Derenko 2007Y=1
Yakut (Central)0.02388Duggan 2013Y1a=2
Daur (Evenk Autonomous Banner)0.02245Kong 2003Y1=1
Han (Xinjiang)0.02147Yao 2004Y1=1
Mongolian (Ulaanbaatar)0.02147Jin 2009Y1=1
Kalmyk (Kalmykia)0.018110Derenko 2007Y=2
Kazakh (Kazakhstan)0.01855Yao 2004Y1=1
Japanese (Tōhoku)0.018336Umetsu 2005Y=6
Uzbek (Xinjiang)0.01758Yao 2004Y1=1
Indonesian (Sulawesi)0.017237Hill 2007Y2=4
Korean (South Korea)0.015203Umetsu 2005Y=3
Taiwan aborigines0.014640Peng 2011Y=9
Buryat (Buryatia)0.014295Derenko 2007Y=4
Taiwanese0.013152Maruyama 2003Y=2
Indonesian (Adonara)0.01377Mona 2009Y2=1
Indonesian (Bali)0.01282Hill 2007Y2=1
Yakut (vicinity of Yakutsk)0.012164Fedorova 2013Y1a=2
Chinese0.011263Maruyama 2003Y=3
Taiwanese (Taipei, Taiwan)0.01191Umetsu 2005Y=1
Korean (South Korea)0.011185Jin 2009Y1=1, Y2=1
Kazakh (Kosh-Agachsky, Altai Republic)0.01098Derenko 2012Y1=1
Japanese (Miyazaki)0.010100Uchiyama 2007Y=1
Hmong (Jishou, Hunan)0.010103Wen 2005Y=1
Korean (South Korea)0.010103Derenko 2007Y=1
Buryat0.008126Kong 2003Y1=1
Tatar (Buinsk, Tatarstan)0.008126Malyarchuk 2010Y1b=1
Japanese (northern Kyūshū)0.008256Umetsu 2005Y=2
Barghut (Hulunbuir)0.007149Derenko 2012Y1=1
Okinawa0.006326Umetsu 2005Y=2
Japanese0.005211Maruyama 2003Y=1
Japanese (Hokkaidō)0.005217Asari 2007Y=1
Bashkir (Beloretsky, Sterlibashevsky, Ilishevsky, & Perm Oblast)0.005221Bermisheva 2002Y=1
Korean (South Korea)0.004261Kim 2008Y=1
Han (southern California)0.003390Ji 2012Y=1
Han (Taiwan)0.0011117Ji 2012Y=1
Dingban Yao (Mengla, Yunnan)0.00010Wen 2005-
Xiban Yao (Fangcheng, Guangxi)0.00011Wen 2005-
Chukchi (Anadyr)0.00015Derenko 2007-
Dungan (Uzbekistan/Kyrgyzstan)0.00016Comas 2004-
Uyghur (Uzbekistan/Kyrgyzstan)0.00016Comas 2004-
Yukaghir (Upper Kolyma)0.00018Volodko 2008-
Huatou Yao (Fangcheng, Guangxi)0.00019Wen 2005-
Crimean Tatar (Uzbekistan/Kyrgyzstan)0.00020Comas 2004-
Iranian (Uzbekistan/Kyrgyzstan)0.00020Comas 2004-
Karakalpak (Uzbekistan/Kyrgyzstan)0.00020Comas 2004-
Turkmen (Uzbekistan/Kyrgyzstan)0.00020Comas 2004-
Yi (Hezhang County, Guizhou)0.00020Li 2007-
Yukaghir (Verkhnekolymsky & Nizhnekolymsky)0.00022Fedorova 2013-
Guoshan Yao (Jianghua, Hunan)0.00024Wen 2005-
Hindu (Chitwan, Nepal)0.00024Fornarino 2009-
Nganasan0.00024Starikovskaya 2005-
Bunu (Dahua & Tianlin, Guangxi)0.00025Wen 2005-
Buryat (Kushun, Nizhneudinsk, Irkutsk Oblast)0.00025Starikovskaya 2005-
Kubachi (Dagestan)0.00025Marchani 2008-
Kurd (northwestern Iran)0.00025Derenko 2007-
Kumyk (Dagestan)0.00026Marchani 2008-
Lanten Yao (Tianlin, Guangxi)0.00026Wen 2005-
Iu Mien (Mengla, Yunnan)0.00027Wen 2005-
Indonesian (Palembang, Sumatra)0.00028Hill 2006-
Andhra Pradesh (tribal)0.00029Fornarino 2009-
Batek (Malaysia)0.00029Hill 2006-
Tujia (Yanhe County, Guizhou)0.00029Li 2007-
Cun (Hainan)0.00030Peng 2011-
Nu (Gongshan, Yunnan)0.00030Wen 2004-
Tujia (Yongshun, Hunan)0.00030Wen 2004-
Lingao (Hainan)0.00031Peng 2011-
Wuzhou Yao (Fuchuan, Guangxi)0.00031Wen 2005-
Yi (Luxi, Yunnan)0.00031Wen 2004-
Chuvantsi (Markovo, Chukotka)0.00032Volodko 2008-
Mendriq (Malaysia)0.00032Hill 2006-
Mien (Shangsi, Guangxi)0.00032Wen 2005-
Pan Yao (Tianlin, Guangxi)0.00032Wen 2005-
Nogai (Dagestan)0.00033Marchani 2008-
Temuan (Malaysia)0.00033Hill 2006-
Bapai Yao (Liannan, Guangdong)0.00035Wen 2005-
Tibetan (Zhongdian, Yunnan)0.00035Wen 2004-
Aleut (Commander Islands)0.00036Volodko 2008-
Pumi (Ninglang, Yunnan)0.00036Wen 2004-
Yakut (Yakutia)0.00036Derenko 2007-
Sireniki Eskimo0.00037Volodko 2008-
Ket0.00038Starikovskaya 2005-
Eskimo (Naukan)0.00039Volodko 2008-
Hmong (Wenshan, Yunnan)0.00039Wen 2005-
Nganasan0.00039Volodko 2008-
Han (Beijing)0.00040Jin 2009-
Kim Mun (Malipo, Yunnan)0.00040Wen 2005-
Manchurian0.00040Jin 2009-
Thai0.00040Jin 2009-
Tharu (Morang, Nepal)0.00040Fornarino 2009-
Uzbek (Uzbekistan/Kyrgyzstan)0.00040Comas 2004-
Yi (Shuangbai, Yunnan)0.00040Wen 2004-
Tu Yao (Hezhou, Guangxi)0.00041Wen 2005-
Lowland Yao (Fuchuan, Guangxi)0.00042Wen 2005-
Vietnamese0.00042Jin 2009-
Indonesian (Ambon)0.00043Hill 2007-
Indonesian (Mataram, Lombok)0.00044Hill 2007-
Hui (Xinjiang)0.00045Yao 2004-
Indonesian (Alor)0.00045Hill 2007-
Naxi (Lijiang, Yunnan)0.00045Wen 2004-
Tofalar0.00046Starikovskaya 2005-
Evenk (New Barag Left Banner)0.00047Kong 2003-
Kyrgyz (Sary-Tash)0.00047Yao 2004-
Mongolian (Ulan Bator)0.00047Derenko 2007-
Uyghur (Xinjiang)0.00047Yao 2004-
Hindu (New Delhi)0.00048Fornarino 2009-
Korean (Arun Banner)0.00048Kong 2003-
Kyrgyz (Talas)0.00048Yao 2004-
Mongol (New Barag Left Banner)0.00048Kong 2003-
Oirat Mongol (Xinjiang)0.00049Yao 2004-
Aini (Xishuangbanna, Yunnan)0.00050Wen 2004-
Eskimo (Chaplin)0.00050Volodko 2008-
Indonesian (Waingapu, Sumba)0.00050Hill 2007-
Jahai (Malaysia)0.00051Hill 2006-
Korean (northern China)0.00051Jin 2009-
Senoi (Malaysia)0.00052Hill 2006-
Kazakh (Xinjiang)0.00053Yao 2004-
Teleut (Kemerovo)0.00053Derenko 2007-
Chuvash (Morgaushsky, Chuvashia)0.00055Bermisheva 2002-
Uyghur (Kazakhstan)0.00055Yao 2004-
Tibetan (Qinghai)0.00056Wen 2004-
Khakassian (Khakassia)0.00057Derenko 2007-
Semelai (Malaysia)0.00061Hill 2006-
Komi-Zyryan (Sysolsky, Komi Republic)0.00062Bermisheva 2002-
Mansi0.00063Pimenoff 2008-
Tujia (western Hunan)0.00064Wen 2004-
Chukchi0.00066Starikovskaya 2005-
Bai (Dali, Yunnan)0.00068Wen 2004-
Saami (Finland)0.00069Tambets 2004-
Tatar (Aznakayevo, Tatarstan)0.00071Malyarchuk 2010-
Telenghit (Altai Republic)0.00071Derenko 2007-
Tubalar (Turochaksky & Choysky, Altai Republic)0.00072Starikovskaya 2005-
Komi-Permyak (Komi-Permyak Autonomous Okrug)0.00074Bermisheva 2002-
Siberian Eskimo0.00079Starikovskaya 2005-
Persian (eastern Iran)0.00082Derenko 2007-
Shor (Kemerovo)0.00082Derenko 2007-
Yukaghir (Lower Kolyma-Indigirka)0.00082Volodko 2008-
Altai Kizhi0.00090Derenko 2007-
Tuvan0.00095Starikovskaya 2005-
Eskimo (Canada)0.00096Volodko 2008-
Mansi0.00098Starikovskaya 2005-
Saami (Sweden)0.00098Tambets 2004-
Udmurt (Malopurginsky, Udmurtia & Tatyshlinsky, Bashkortostan)0.000101Bermisheva 2002-
Gelao (Daozhen County, Guizhou)0.000102Liu 2011-
Mordvinian (Staroshaygovsky, Mordovia)0.000102Bermisheva 2002-
Tuvinian0.000105Derenko 2007-
Khanty0.000106Pimenoff 2008-
Yakut0.000117Kong 2003-
Evenk (Ust-Maysky, Oleneksky, & Zhigansky, Yakutia)0.000125Fedorova 2013-
Tharu (Chitwan, Nepal)0.000133Fornarino 2009-
Mari (Zvenigovsky, Mari El)0.000136Bermisheva 2002-
Han (Southwest China; pool of 44 Sichuan, 34 Chongqing, 33 Yunnan, & 26 Guizhou)0.000137Ji 2012-
Yakut (northern Yakutia)0.000148Fedorova 2013-
Dolgan (Anabarsky, Volochanka, Ust-Avam, and Dudinka)0.000154Fedorova 2013-
Chinese (Shenyang, Liaoning)0.000160Umetsu 2005-
Aleut (Aleutian Islands)0.000163Volodko 2008-
Cham (Bình Thuận, Vietnam)0.000168Peng 2010-
Tatar (Almetyevsky and Yelabuzhsky, Tatarstan)0.000228Bermisheva 2002-
Saami (Norway)0.000278Tambets 2004-
Japanese (Tōkai)0.000282Umetsu 2005-
Tibetan (Tibet)0.000289Ji 2012-
Li (Hainan)0.000346Peng 2011-
Eskimo (Greenland)0.000385Volodko 2008-

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.[11]

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, 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, 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 Uyghurs, 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.[2] (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 [95% CI 3,800 <-> 9,800] ybp,[12] 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.[2]

Y2a predominates in the Southeast Asian range of haplogroup Y, which is centered on the Philippines and Sumatra. However, Y2b has been observed in Japan 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[1] and subsequent published research.

  • Y
    • Y1
      • Y1a
      • Y1b
    • Y2
      • Y2a
      • Y2b

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T

References

  1. 1 2 van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
  2. 1 2 3 Sukernik, Rem I.; Volodko, Natalia V.; Mazunin, Ilya O.; Eltsov, Nikolai P.; Dryomov, Stanislav V.; Starikovskaya, Elena B. (May 2012). "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 (1): 123–138. doi:10.1002/ajpa.22050. PMID 22487888.
  3. Bermisheva, M. A.; Kutuev, I. A.; Spitsyn, V. A.; Villems, R.; Batyrova, A. Z.; Korshunova, T. Yu.; Khusnutdinova, E. K. (January 2005). "Analysis of Mitochondrial DNA variation in the population of oroks". Russian Journal of Genetics. 41 (1): 66–71. doi:10.1007/PL00022112. S2CID 264200417. Translated from Genetika, Vol. 41, No. 1, 2005, pp. 78–84.
  4. 1 2 Tanaka M, Cabrera VM, González AM, et al. (2004). "Mitochondrial Genome Variation in Eastern Asia and the Peopling of Japan". Genome Research. 14 (10A): 1832–1850. doi:10.1101/gr.2286304. PMC 524407. PMID 15466285.
  5. 1 2 Tajima A, Hayami M, Tokunaga K, et al. (2004). "Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages". Journal of Human Genetics. 49 (4): 187–193. doi:10.1007/s10038-004-0131-x. PMID 14997363.
  6. 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)
  7. Inoue et al. 2016
  8. Diversity of Mitochondrial DNA Lineages in South Siberia by Derenko1 et al., Annals of Human Genetics Volume 67 Issue 5 Page 391 - September 2003
  9. Yao, Y.-G.; Kong, QP; Wang, CY; Zhu, CL; Zhang, YP. (11 August 2004). "Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China". Molecular Biology and Evolution. 21 (12): 2265–2280. doi:10.1093/molbev/msh238. PMID 15317881.
  10. 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) doi:10.1093/molbev/msq300
  11. 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
  12. YFull MTree 1.02.8328 (as of 11 March 2021)

Works cited

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