* {{cite journal |ref={{harvid|Marchani|2008}} |last1=Marchani |first1=Elizabeth E |last2=Watkins |first2=W Scott |last3=Bulayeva |first3=Kazima |last4=Harpending |first4=Henry C |last5=Jorde |first5=Lynn B |title=Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan |journal=BMC Genetics |date=December 2008 |volume=9 |issue=1 |doi=10.1186/1471-2156-9-47}}
* {{cite journal |ref={{harvid|Marchani|2008}} |last1=Marchani |first1=Elizabeth E |last2=Watkins |first2=W Scott |last3=Bulayeva |first3=Kazima |last4=Harpending |first4=Henry C |last5=Jorde |first5=Lynn B |title=Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan |journal=BMC Genetics |date=December 2008 |volume=9 |issue=1 |doi=10.1186/1471-2156-9-47}}
* {{cite journal |ref={{harvid|Pimenoff|2008}} |last1=Pimenoff |first1=Ville N |last2=Comas |first2=David |last3=Palo |first3=Jukka U |display-authors=etal |year=2008 |title=Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers |journal=European Journal of Human Genetics |volume=16 |issue=10 |pages=1254–1264 |doi=10.1038/ejhg.2008.101 |pmid=18506205 |s2cid=19488203 |doi-access=free}}
* {{cite journal |ref={{harvid|Pimenoff|2008}} |last1=Pimenoff |first1=Ville N |last2=Comas |first2=David |last3=Palo |first3=Jukka U |display-authors=etal |year=2008 |title=Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers |journal=European Journal of Human Genetics |volume=16 |issue=10 |pages=1254–1264 |doi=10.1038/ejhg.2008.101 |pmid=18506205 |s2cid=19488203 |doi-access=free}}
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.[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 BuryatinZabaikal, 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.[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.
^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. 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)
^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.
^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
Duggan, Ana T.; Whitten, Mark; Wiebe, Victor; Crawford, Michael; Butthof, Anne; Spitsyn, Victor; Makarov, Sergey; Novgorodov, Innokentiy; Osakovsky, Vladimir; Pakendorf, Brigitte (12 December 2013). "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers". PLoS ONE. 8 (12): e83570. doi:10.1371/journal.pone.0083570.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Starikovskaya, Elena B.; Sukernik, Rem I.; Derbeneva, Olga A.; Volodko, Natalia V.; Ruiz‐Pesini, Eduardo; Torroni, Antonio; Brown, Michael D.; Lott, Marie T.; Hosseini, Seyed H.; Huoponen, Kirsi; Wallace, Douglas C. (January 2005). "Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups". Annals of Human Genetics. 69 (1): 67–89. doi:10.1046/j.1529-8817.2003.00127.x.
Volodko, Natalia V.; Starikovskaya, Elena B.; Mazunin, Ilya O.; Eltsov, Nikolai P.; Naidenko, Polina V.; Wallace, Douglas C.; Sukernik, Rem I. (May 2008). "Mitochondrial Genome Diversity in Arctic Siberians, with Particular Reference to the Evolutionary History of Beringia and Pleistocenic Peopling of the Americas". The American Journal of Human Genetics. 82 (5): 1084–1100. doi:10.1016/j.ajhg.2008.03.019.
Derenko, Miroslava; Malyarchuk, Boris; Grzybowski, Tomasz; Denisova, Galina; Dambueva, Irina; Perkova, Maria; Dorzhu, Choduraa; Luzina, Faina; Lee, Hong Kyu; Vanecek, Tomas; Villems, Richard; Zakharov, Ilia (November 2007). "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations". The American Journal of Human Genetics. 81 (5): 1025–1041. doi:10.1086/522933.
Fedorova, Sardana A; Reidla, Maere; Metspalu, Ene; Metspalu, Mait; Rootsi, Siiri; Tambets, Kristiina; Trofimova, Natalya; Zhadanov, Sergey I; Kashani, Baharak Hooshiar; Olivieri, Anna; Voevoda, Mikhail I; Osipova, Ludmila P; Platonov, Fedor A; Tomsky, Mikhail I; Khusnutdinova, Elza K; Torroni, Antonio; Villems, Richard (December 2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology. 13 (1). doi:10.1186/1471-2148-13-127.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Kong, Qing-Peng; Yao, Yong-Gang; Sun, Chang; Bandelt, Hans-Jürgen; Zhu, Chun-Ling; Zhang, Ya-Ping (September 2003). "Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences". The American Journal of Human Genetics. 73 (3): 671–676. doi:10.1086/377718.
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.
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.
Tambets, Kristiina; Rootsi, Siiri; Kivisild, Toomas; Help, Hela; Serk, Piia; Loogväli, Eva-Liis; Tolk, Helle-Viivi; Reidla, Maere; et al. (April 2004). "The Western and Eastern Roots of the Saami—the Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes". The American Journal of Human Genetics. 74 (4): 661–682. doi:10.1086/383203.
Comas, David; Plaza, Stéphanie; Wells, R Spencer; Yuldaseva, Nadira; Lao, Oscar; Calafell, Francesc; Bertranpetit, Jaume (June 2004). "Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages". European Journal of Human Genetics. 12 (6): 495–504. doi:10.1038/sj.ejhg.5201160.
Wen, Bo; Xie, Xuanhua; Gao, Song; Li, Hui; Shi, Hong; Song, Xiufeng; Qian, Tingzhi; Xiao, Chunjie; et al. (May 2004). "Analyses of Genetic Structure of Tibeto-Burman Populations Reveals Sex-Biased Admixture in Southern Tibeto-Burmans". The American Journal of Human Genetics. 74 (5): 856–865. doi:10.1086/386292.
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.
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.
Derenko, Miroslava; Malyarchuk, Boris; Denisova, Galina; Perkova, Maria; Rogalla, Urszula; Grzybowski, Tomasz; Khusnutdinova, Elza; Dambueva, Irina; Zakharov, Ilia (21 February 2012). "Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe". PLoS ONE. 7 (2): e32179. doi:10.1371/journal.pone.0032179.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.
Kim, Wook; Yoo, Tag-Keun; Shin, Dong-Jik; Rho, Hyun-Wook; Jin, Han-Jun; Kim, Eun-Tak; Bae, Yoon-Sun (21 May 2008). "Mitochondrial DNA Haplogroup Analysis Reveals no Association between the Common Genetic Lineages and Prostate Cancer in the Korean Population". PLoS ONE. 3 (5): e2211. doi:10.1371/journal.pone.0002211.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Ji, Fuyun; Sharpley, Mark S.; Derbeneva, Olga; Alves, Leonardo Scherer; Qian, Pin; Wang, Yaoli; Chalkia, Dimitra; Lvova, Maria; et al. (8 May 2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". Proceedings of the National Academy of Sciences. 109 (19): 7391–7396. doi:10.1073/pnas.1202484109.
Marchani, Elizabeth E; Watkins, W Scott; Bulayeva, Kazima; Harpending, Henry C; Jorde, Lynn B (December 2008). "Culture creates genetic structure in the Caucasus: Autosomal, mitochondrial, and Y-chromosomal variation in Daghestan". BMC Genetics. 9 (1). doi:10.1186/1471-2156-9-47.{{cite journal}}: CS1 maint: unflagged free DOI (link)
