Haplogroup C-M8

Haplogroup C-M8 also known as Haplogroup C1a1 is a Y-chromosome haplogroup. It is one of two branches of Haplogroup C1a, one of the descendants of Haplogroup C-M130. The other is C1a2 (also known as C-V20).

Haplogroup C-M8 (C1a1)
Possible time of origin	41,900YBP[1] 51,800YBP[2]
Coalescence age	11,650YBP[3]
Possible place of origin	Japanese Archipelago?
Ancestor	(Grandparent) Haplogroup C1a
Defining mutations	M8, M105, M131, P122
Highest frequencies	Jōmon people 30%, Yamato people 6% (3.3% - 10%), Ryukyuan people 6.8% (4.4% - 8.0%)

It has been found in about 6% of modern males sampled in Japan and has been considered to be a Y-DNA haplogroup descended from Jōmon people.[4][5] Elsewhere, it has been observed among academic studies only in one individual in a sample collected on Jeju Island of South Korea[6] and in commercial testing in one individual who has reported an origin in Liaoning province of China and one individual who has reported an origin in Seoul, South Korea.[7]

The MRCA with the closest sister haplogroup C-V20 dates back to 40,000[1] to 50,000[2] years ago and is common in Europe and the Middle East. As long as grasped by current research, diffusion of the existing subtypes of C-M8 is estimated to be about 12,000 years ago.[3]

Frequency in Japan

Frequency in samples of Japanese from various regions:[5]

• Aomori 7.7%[3]
• Tokyo 7.1%[2]
• Okinawa 6.8% (4.4%[8] - 8.0%[9])
• Tokushima 6.3% (5.7%[10] - 10.0%[3])
• Osaka 6.2%[5]
• Fukuoka 5.9%[10]
• Kawasaki 5.6%[10]
• Shizuoka 4.9%[3]
• Sapporo 4.1% (3.4%[10] - 4.6%[10])
• Kanazawa 4.0% (3.4%[10] - 4.7%[10])
• Nagasaki 3.3%[10]

History

Possibly migration route of Haplogroup C (Y-DNA)

Haplogroup C1a1 (M8) is mostly unique to the Japanese archipelago, and its migration route is enigmatic. The closest sister Haplogroup C-V20 is discovered in Paleolithic Europe (Cro-Magnons), Neolithic Europe and small numbers of modern Europeans, North Africans, Armenians, and Nepalis.

Mitsuru Sakitani said that C1a1's ancestral type reached Japan over the Korean Peninsula via the Altai Mountains from Western Asia.[11] Although its age of arrival is unknown, the spread of the existing subgroup is about 12,000 years ago, which is almost consistent with the start of the Jōmon period. That is, Haplogroup C1a1 may belong to the group that brought the Jōmon culture to Japan.

C1a1 is estimated to be one of the common haplogroups among the Jōmon people (about 30%).[12]

References

1. Zhong H, Shi H, Qi XB et al. (July 2010). "Global distribution of Y-chromosome haplogroup C-M130 reveals the prehistoric migration routes of African exodus and early settlement in East Asia". J. Hum. Genet. 55 (7): 428–35. doi:10.1038/jhg.2010.40. PMID 20448651.
2. G. David Poznik, Yali Xue, Fernando L. Mendez, et al., "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences." Nature Genetics 2016 June ; 48(6): 593–599. doi:10.1038/ng.3559.
3. Hammer MF, Karafet TM, Park H et al. (2006). "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". J. Hum. Genet. 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082.
4. Michael F Hammer; Tatiana M Karafet; Hwayong Park; Keiichi Omoto; Shinji Harihara; Mark Stoneking; Satoshi Horai (2006). “Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes”. Journal of Human Genetics 51 (1): 47 - 58. doi:10.1007/s10038-005-0322-0. PMID 16328082.
5. Nakahori, Yutaka; Iwamoto, Teruaki; Yamauchi, Aiko; Ewis, Ashraf A.; Shinka, Toshikatsu; Sato, Youichi (2014). "Overview of genetic variation in the Y chromosome of modern Japanese males". Anthropological Science. 122 (3): 131–136. doi:10.1537/ase.140709. ISSN 0918-7960.
6. Kim, Soon-Hee; Kim, Ki-Cheol; Shin, Dong-Jik; Jin, Han-Jun; Kwak, Kyoung-Don; Han, Myun-Soo; Song, Joon-Myong; Kim, Won; Kim, Wook (2011). "High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: A genetic perspective on the peopling of Korea". Investigative Genetics. 2 (1): 10. doi:10.1186/2041-2223-2-10. PMC 3087676. PMID 21463511.
7. YFull Haplogroup YTree v6.02 at 02 April 2018
8. Tajima, Atsushi; Hayami, Masanori; Tokunaga, Katsushi; Juji, T; Matsuo, M; Marzuki, S; Omoto, K; Horai, S (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.
9. Nonaka I, Minaguchi K, Takezaki N (July 2007). "Y-chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y-STR polymorphisms". Ann. Hum. Genet. 71 (Pt 4): 480–95. doi:10.1111/j.1469-1809.2006.00343.x. PMID 17274803.
10. Youichi Sato, Toshikatsu Shinka, Ashraf A. Ewis, Aiko Yamauchi, Teruaki Iwamoto, and Yutaka Nakahori, "Overview of genetic variation in the Y chromosome of modern Japanese males." Anthropological Science Vol. 122(3), 131–136, 2014. DOI: 10.1537/ase.140709
11. 崎谷満『DNA・考古・言語の学際研究が示す新・日本列島史』（勉誠出版　2009年）(in Japanese)
12. Ohashi, Jun; Tokunaga, Katsushi; Hitomi, Yuki; Sawai, Hiromi; Khor, Seik-Soon; Naka, Izumi; Watanabe, Yusuke (2019-06-17). "Analysis of whole Y-chromosome sequences reveals the Japanese population history in the Jomon period". Scientific Reports. 9 (1): 8556. Bibcode:2019NatSR...9.8556W. doi:10.1038/s41598-019-44473-z. ISSN 2045-2322. PMC 6572846. PMID 31209235.

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
	"Y-chromosomal Adam"
		A00	A0-T [χ 3]
			A0	A1 [χ 4]
				A1a	A1b
					A1b1		BT
							B	CT
								DE						CF
							D	E		C		F
															F1	F2		F3	GHIJK
																				G	HIJK
																					IJK	H
														IJ	K
									I	J		LT [χ 5]		K2 [χ 6]
																L	T		K2a [χ 7]	K2b [χ 8]	K2c	K2d	K2e [χ 9]
																			K-M2313 [χ 10]		K2b1 [χ 11]	P [χ 12]
																			NO		S [χ 13]	M [χ 14]		P1	P2
																		N	O			Q	R
Y-DNA by population Y-DNA haplogroups of historic people Footnotes  Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.) Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4). Haplogroup A1 is also known as A1'2'3'4. Haplogroup LT (L298/P326) is also known as Haplogroup K1. Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT. Haplogroup K2a (M2308) and its primary subclade K-M2313 were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. doi:10.1038/ng.3559. PMC 4884158. PMID 27111036. In the past, other haplogroups, including NO (M214) and K2e had also been identified with the name "K2a". Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS. Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a). K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017) Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure. Haplogroup P (P295) is also klnown as K2b2. Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.) Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)