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]
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.[21]
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, 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
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,[22] 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.[citation needed]
^
abcSukernik, 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.
PMID22487888.
^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.
PMID15771254.
S2CID264200417. 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)
^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
^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
Bermisheva, M. A.; Tambets, K.; Villems, R.; Khusnutdinova, E. K. (2002). "Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga-Ural Region". Molecular Biology. 36 (6): 802–812.
doi:
10.1023/A:1021677708482.
S2CID16959586.
Scholes, Clarissa; Siddle, Katherine; Ducourneau, Axel; Crivellaro, Federica; Järve, Mari; Rootsi, Siiri; Bellatti, Maggie; Tabbada, Kristina; et al. (September 2011). "Genetic diversity and evidence for population admixture in Batak Negritos from Palawan". American Journal of Physical Anthropology. 146 (1): 62–72.
doi:
10.1002/ajpa.21544.
PMID21796613.
Maruyama, Sayaka; Minaguchi, Kiyoshi; Saitou, Naruya (1 August 2003). "Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population". International Journal of Legal Medicine. 117 (4): 218–225.
doi:
10.1007/s00414-003-0379-2.
PMID12845447.
S2CID1224295.
Umetsu, Kazuo; Tanaka, Masashi; Yuasa, Isao; et al. (2005). "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations". Electrophoresis. 26 (1): 91–98.
doi:
10.1002/elps.200406129.
PMID15624129.
S2CID44989190.
Asari, M; et al. (2007). "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population". Leg Med. 9 (5): 237–240.
doi:
10.1016/j.legalmed.2007.01.007.
PMID17467322.
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]
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.[21]
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, 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
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,[22] 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.[citation needed]
^
abcSukernik, 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.
PMID22487888.
^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.
PMID15771254.
S2CID264200417. 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)
^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
^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
Bermisheva, M. A.; Tambets, K.; Villems, R.; Khusnutdinova, E. K. (2002). "Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga-Ural Region". Molecular Biology. 36 (6): 802–812.
doi:
10.1023/A:1021677708482.
S2CID16959586.
Scholes, Clarissa; Siddle, Katherine; Ducourneau, Axel; Crivellaro, Federica; Järve, Mari; Rootsi, Siiri; Bellatti, Maggie; Tabbada, Kristina; et al. (September 2011). "Genetic diversity and evidence for population admixture in Batak Negritos from Palawan". American Journal of Physical Anthropology. 146 (1): 62–72.
doi:
10.1002/ajpa.21544.
PMID21796613.
Maruyama, Sayaka; Minaguchi, Kiyoshi; Saitou, Naruya (1 August 2003). "Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population". International Journal of Legal Medicine. 117 (4): 218–225.
doi:
10.1007/s00414-003-0379-2.
PMID12845447.
S2CID1224295.
Umetsu, Kazuo; Tanaka, Masashi; Yuasa, Isao; et al. (2005). "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations". Electrophoresis. 26 (1): 91–98.
doi:
10.1002/elps.200406129.
PMID15624129.
S2CID44989190.
Asari, M; et al. (2007). "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population". Leg Med. 9 (5): 237–240.
doi:
10.1016/j.legalmed.2007.01.007.
PMID17467322.