Haplogroup Y (mtDNA)

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]

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 38% of Ulchs, approximately 21% of Negidals, and approximately 20% of Ainus.^[2][3][4][5] 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 haplogroup 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^[3] and in South Siberian and Central Asian populations with an average frequency of 1%.^[6][7]

Its subclade Y2 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.^[8]

Table of frequencies of mtDNA haplogroup Y

Subclades

Haplogroup Y has been divided into two primary subclades, Y1 and Y2. Y1 predominates in the Northeast Asian range of haplogroup Y, which is centered on the Sea of Okhotsk. Y2 predominates in the Southeast Asian range of haplogroup Y, which is centered on the Philippines and Sumatra.

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

See also

• Genealogical DNA test
• Genetic Genealogy
• Human mitochondrial genetics
• Population Genetics

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. Retrieved 2009-05-20. 
2. ↑ 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.
3. 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.  CS1 maint: Explicit use of et al. (link)
4. ↑ 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.  CS1 maint: Explicit use of et al. (link)
5. ↑ 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)
6. ↑ Diversity of Mitochondrial DNA Lineages in South Siberia by Derenko1 et al., Annals of Human Genetics Volume 67 Issue 5 Page 391 - September 2003
7. ↑ 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
8. ↑ 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

External links

• Ian Logan's Mitochondrial DNA Site
• Mannis van Oven's Phylotree