Haplogroup Y (mtDNA)
In human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA (mtDNA) haplogroup.
| Haplogroup Y | |
|---|---|
 | |
| Possible time of origin | 11,800 to 33,300 YBP |
| Ancestor | N9 |
| Descendants | Y1, Y2 |
| Defining mutations | 8392 10398 14178 14693 16126 16223 16231[1] |
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] It is also fairly common among indigenous peoples of the Kamchatka Peninsula (Koryaks, Itelmens) and Maritime Southeast Asia.
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%.[7][8]
The Y2 subclade has been observed in 40% (176/440) of a large pool of samples from Nias 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.[9]
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.[10]
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 7,200 [95% CI 4,000 <-> 11,900] ybp,[11] 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
- Y1
See also
 |
Wikimedia Commons has media related to Haplogroup Y (mtDNA). |
|
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
- 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. Archived from the original on 4 December 2012. Retrieved 2009-05-20.
- 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
- 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.
- 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.
- 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.
- 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)
- 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
- 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
External links
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree