|Possible time of origin||20,000 to 25,000 years BP|
|Possible place of origin||N in Far East (ISOGG 2012) or South China|
|Highest frequencies||Yakuts 75%, Nenets 75%, Finns 60%, Baltic States 45% (McDonald 2005), Saami 40%, East Prussian Germans 28%, Russians 20% (Malyarchuk 2004),|
- 1 Origins
- 2 Distribution
- 3 Phylogenetics
- 4 See also
- 5 References
- 6 External links
Haplogroup N-M231 is a descendant haplogroup of Haplogroup NO. It is considered relatively young, having populated the north of Eurasia after the last Ice Age. Males carrying the marker apparently moved northwards as the climate warmed in the Holocene. The absence of haplogroup N-M231 in the Americas indicates that its spread across Asia happened after the submergence of the Bering land bridge (Chiaroni 2009). It is suggested that it arose in southeast Asia 19.4±4.8 ky years ago, and then migrated in a counter-clockwise path from modern day regions of Mongolia and northern China to as far as northeastern Europe (Rootsi 2006).
Haplogroup N-231 has a wide geographic distribution throughout northern Eurasia, and it also has been observed occasionally in more southerly areas, including Southeast Asia, Nepal, Southwest Asia, and Southern Europe. Its highest frequency occurs among the Finnic and Baltic peoples of northern Europe, the Ob-Ugric and Northern Samoyedic peoples of western Siberia, and the Siberian Turkic-speaking Yakuts (McDonald 2005). It is also carried by about 10% to 20% of Russians (Malyarchuk 2004).
Y-chromosomes that display the M231 mutation that defines Haplogroup N-M231 but do not display the LLY22g mutation that defines Haplogroup N-LLY22g are said to belong to Paragroup N-M231*. Per present research, Paragroup N-M231* Y-DNA has been found in 1.2% of a sample of 165 Han males from China (Karafet 2010).[Footnote 1]
|Possible time of origin|
|Possible place of origin||Asia|
Y-chromosomes that display the M231 and LLY22g mutations that define Haplogroup N-M231 and Haplogroup N-LLY22g but do not display any of the downstream mutations that define the subclades N-M128, N-P43, and N-M46/N-Tat are said to belong to Paragroup N-LLY22g*.[Phylogenetics 2]
Paragroup N-LLY22g* reaches a frequency of up to 30% (13/43) among the Yizu of Butuo County, Sichuan Province in southwestern China (Hammer 2005, Karafet 2001, and Wen2004b). Paragroup N-LLY22g* also has been found in samples of Han Chinese, but with widely varying frequency:
- 15.0% (6/40) Guangdong Han (Hammer 2005 and Karafet 2001)
- 6.8% (3/44) Shaanxi Han (Hammer 2005 and Karafet 2001)
- 6.7% (2/30) Han from Lanzhou (Xue 2006)
- 3.6% (3/84) Taiwanese Han (Hammer 2005)
- 2.9% (1/34) Han from Chengdu (Xue 2006)
- 2.9% (1/35) Han from Harbin (Xue 2006)
- 2.9% (1/35) Han from Meixian (Xue 2006)
- 0% (0/32) Han from Yili (Xue 2006)
Other populations in which representatives of Paragroup N-LLY22g* have been found include:
- Hani (4/34 = 11.8%) (Xue 2006)
- Sibe (4/41 = 9.8%) (Xue 2006)
- Tujia (2/49 = 4.1%) (Hammer 2005)
- Manchu (2/52 = 3.8% (Hammer 2005) to 2/35 = 5.7% (Xue 2006)
- Bit (1/28 = 3.6%) (Cai 2011)
- Uyghur (2/70 = 2.9% (Xue 2006) to 2/67 = 3.0%) (Hammer 2005)
- Tibetan (3/105 = 2.9%(Hammer 2005) to 3/35 = 8.6% (Xue 2006))
- Koreans (0/106 = 0.0% - 2/25 = 8% (Rootsi 2006, Xue 2006, and Kim 2007)
- Vietnamese (2/70 = 2.9%) (Hammer 2005)
- Japanese (0/70 Tokushima - 2/26 = 7.7% Aomori) (Hammer 2005)
- Maori = 7% 
- Manchurian Evenk (0/26 = 0.0% (Xue 2006) to 1/41 = 2.4%(Hammer 2005))
- Altaians (0/50 Northern to 5/96 = 5.2% Southern, or 0/43 Beshpeltir to 5/46 = 10.9% Kulada),(Hammer 2005)(Kharkov 2007)
- Shorians (2/23 = 8.7%) (Rootsi 2006)
- Khakas (5/181 = 2.8%) (Rootsi 2006)
- Tuvinians (5/311 = 1.6%) (Rootsi 2006)
- southern Borneo (1/40 = 2.5%) (Rootsi 2006)
- Forest Nenets (1/89 = 1.1%) (Rootsi 2006)
- Fiji (1/107 = 0.9%) (Rootsi 2006)
- Yakuts (0/215 - 1/121 = 0.8%) (Rootsi 2006)
- Turks (1/523 = 0.2%) (Rootsi 2006)
In Turkey, the total of subclades of haplogroup N-M231 amounts to 4% of the male population. One individual who belongs either to N-LLY22g(xM128,P43,Tat) or to N-M231(xLLY22g) has been found in a sample of 77 males from Kathmandu, Nepal (1/77 = 1.3% N-M231(xM128,P43,Tat)) (Gayden 2007).
|Possible time of origin|
|Possible place of origin||Asia|
This subclade is defined by the presence of the marker M128.[Phylogenetics 3] N-M128 was first identified in a sample from Japan (1/23 = 4.3%) and in a sample from Central Asia and Siberia (1/184 = 0.5%) in a preliminary survey of worldwide Y-DNA variation. Subsequently, it has been found with low frequency in some samples of Manchus, Sibes, Manchurian Evenks, Koreans, northern Han Chinese, Buyei, and some Turkic peoples of Central Asia.
Haplogroup N-P43[Phylogenetics 4] is defined by the presence of the marker P43. It is a significantly younger subclade, perhaps only 6,000 to 8,000 years old, with a probable origin in Siberia (Darenko 2007). It is found frequently among Northern Samoyedic peoples; also found at low to moderate frequency among some other Uralic peoples, Turkic peoples, Mongolic peoples, Tungusic peoples, and Siberian Yupiks.
The mutations that define the subclade N-M46[Phylogenetics 5] are M46/Tat and P105. This is the most frequent subclade of N. It arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe (Rootsi 2006). Haplogroup N-M46 is approximately 14,000 years old.
In Siberia, haplogroup N-M46 reaches a maximum frequency of approximately 90% among the Yakuts, a Turkic people who live mainly in the Sakha (Yakutia) Republic. However, it is practically non-existent among many of the Yakuts' neighboring ethnic groups, such as Tungusic speakers. It also has been detected in 5.9% (3/51) of a sample of Hmong Daw from Laos (Cai 2011), 2.4% (2/85) of a sample from Seoul, South Korea (Katoh 2004), and in 1.4% (1/70) of a sample from Tokushima, Japan (Hammer 2005).
The haplogroup N-M46 has a low diversity among Yakuts suggestive of a population bottleneck or founder effect ( & Pakendorf 2002). This was confirmed by a study of ancient DNA which traced the origins of the male Yakut lineages to a small group of horse-riders from the Cis-Baikal area (Crubézy 2010).
The subclade N-M178[Phylogenetics 6] is defined by the presence of markers M178 and P298. N-M178* has higher average frequency in Northern Europe than in Siberia, reaching frequencies of approximately 60% among Finns and approximately 40% among Latvians, Lithuanians & 35% among Estonians (Darenko 2007 and Lappalainen 2008).
Miroslava Derenko and her colleagues noted that there are two subclusters within this haplogroup, both present in Siberia and Northern Europe, with different histories. The one that they labelled N3a1 first expanded in south Siberia (approximately 10,000 years ago on their calculated by the Zhivotovsky method) and spread into Northern Europe where its age they calculated as around 8,000 years ago. Meanwhile, the younger subcluster, which they labelled N3a2, originated in south Siberia (probably in the Baikal region) approximately 4,000 years ago (Darenko 2007).
Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome Phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being above all timely. The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.
|YCC 2002/2008 (Shorthand)||(α)||(β)||(γ)||(δ)||(ε)||(ζ)||(η)||YCC 2002 (Longhand)||YCC 2005 (Longhand)||YCC 2008 (Longhand)||YCC 2010r (Longhand)||ISOGG 2006||ISOGG 2007||ISOGG 2008||ISOGG 2009||ISOGG 2010||ISOGG 2011||ISOGG 2012|
Original research publications
The following research teams per their publications were represented in the creation of the YCC Tree.
Associated mutations (SNPs and UEPs)
B1/B3 The b2/b3 deletion in the AZFc region of the Y-chromosome. This deletion appears to have occurred independently on at least four different occasions. Therefore, this deletion should not be taken as a unique event polymorphism defining this branch of the Y-chromosome tree (ISOGG 2012).
This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree (Karafet 2008) and subsequent published research.
- N (M231)
- N1 (LLY22g)
- N1a (M128)
- N1b (P43) Found in Siberia, North-East European Russia, Tajikistan Murghob District Kyrghyz
- N1b1 (P63) Rare outside of Siberia
- N1c (M46/Tat,P105) N1c* is very rare, found mainly in Asia (dominant among N1c in the Altai).
- N1c1 (M178, P298)
- N1c1a (P21)
- N1c1b (P67)
- N1c1c (P119)
- N1c1d (L708) Most common lineage in Europe
- N1c1 (M178, P298)
- N (M231)
- genetic genealogy
- Genetic history of Europe
- Human Y-chromosome DNA haplogroup
- molecular phylogeny
- Y-chromosome haplogroups by populations
- Y-DNA haplogroups in European populations
- Y-DNA haplogroups by populations of East and Southeast Asia
- Y-DNA haplogroups by ethnic groups
Y-DNA N subclades
Y-DNA backbone tree
|Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups|
- In Karafet 2010, the "Southern Han" sample of Karafet and Hammer's research group is described as originating from Guangdong, and the "Northern Han" sample is described as originating from Shaanxi.
- Shi H, Qi X, Zhong H, Peng Y, Zhang X, et al. (2013) Genetic Evidence of an East Asian Origin and Paleolithic Northward Migration of Y-chromosome Haplogroup N. PLoS ONE 8(6): e66102. doi:10.1371/journal.pone.0066102
- [full citation needed]
- Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations," Nature Genetics • Volume 26 • November 2000
- Dulik 2012
- Cai, Xiaoyun; Qin, Zhendong; Wen, Bo; Xu, Shuhua; Wang, Yi; Lu, Yan; Wei, Lanhai; Wang, Chuanchao et al. (2011). "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". In O'Rourke, Dennis. PLoS ONE 6 (8): e24282. doi:10.1371/journal.pone.0024282. PMC 3164178. PMID 21904623.
- Chiaroni, Jacques; Underhill, Peter A.; Cavalli-Sforza, Luca L. (2009). "Y chromosome diversity, human expansion, drift, and cultural evolution". Proceedings of the National Academy of Sciences 106 (48): 20174–20179. doi:10.1073/pnas.0910803106. PMC 2787129. PMID 19920170.
- Crubézy, Eric; Amory, Sylvain; Keyser, Christine; Bouakaze, Caroline; Bodner, Martin; Gibert, Morgane; Röck, Alexander; Parson, Walther; Alexeev, Anatoly; Ludes, Bertrand (2010). "Human evolution in Siberia: From frozen bodies to ancient DNA". BMC Evolutionary Biology 10: 25. doi:10.1186/1471-2148-10-25. PMC 2829035. PMID 20100333.
- Derenko, Miroslava; Malyarchuk, Boris; Denisova, Galina; Wozniak, Marcin; Grzybowski, Tomasz; Dambueva, Irina; Zakharov, Ilia (2007). "Y-chromosome haplogroup N dispersals from south Siberia to Europe". Journal of Human Genetics 52 (9): 763–70. doi:10.1007/s10038-007-0179-5. PMID 17703276.
- Gayden, Tenzin; Cadenas, Alicia M.; Regueiro, Maria; Singh, Nanda B.; Zhivotovsky, Lev A.; Underhill, Peter A.; Cavalli-Sforza, Luigi L.; Herrera, Rene J. (2007). "The Himalayas as a Directional Barrier to Gene Flow". The American Journal of Human Genetics 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243.
- Hammer, Michael F.; Karafet, Tatiana M.; Park, Hwayong; Omoto, Keiichi; Harihara, Shinji; Stoneking, Mark; Horai, Satoshi (2005). "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.
- Karafet, Tatiana; Xu, Liping; Du, Ruofu; Wang, William; Feng, Shi; Wells, R.S.; Redd, Alan J.; Zegura, Stephen L.; Hammer, Michael F. (2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics 69 (3): 615–28. doi:10.1086/323299. PMC 1235490. PMID 11481588. In this article, the "Southern Han" sample of Karafet and Hammer's research group is described as originating from Guangdong, and the "Northern Han" sample is described as originating from Shaanxi.
- Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274.
- Karafet, T. M.; Hallmark, B.; Cox, M. P.; Sudoyo, H.; Downey, S.; Lansing, J. S.; Hammer, M. F. (2010). "Major East-West Division Underlies Y Chromosome Stratification across Indonesia". Molecular Biology and Evolution 27 (8): 1833–44. doi:10.1093/molbev/msq063. PMID 20207712.
- Katoh, Toru; Munkhbat, Batmunkh; Tounai, Kenichi; Mano, Shuhei; Ando, Harue; Oyungerel, Ganjuur; Chae, Gue-Tae; Han, Huun; Jia, Guan-Jun; Tokunaga, Katsushi; Munkhtuvshin, Namid; Tamiya, Gen; Inoko, Hidetoshi (2005). "Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis". Gene 346: 63–70. doi:10.1016/j.gene.2004.10.023. PMID 15716011.
- Kharkov, V. N.; Stepanov, V. A.; Medvedeva, O. F.; Spiridonova, M. G.; Voevoda, M. I.; Tadinova, V. N.; Puzyrev, V. P. (2007). "Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups". Russian Journal of Genetics 43 (5): 551. doi:10.1134/S1022795407050110.
- Kim, Wook; Yoo, Tag-Keun; Kim, Sung-Joo; Shin, Dong-Jik; Tyler-Smith, Chris; Jin, Han-Jun; Kwak, Kyoung-Don; Kim, Eun-Tak; Bae, Yoon-Sun (2007). "Lack of Association between Y-Chromosomal Haplogroups and Prostate Cancer in the Korean Population". In Blagosklonny, Mikhail. PLoS ONE 2 (1): e172. doi:10.1371/journal.pone.0000172. PMC 1766463. PMID 17245448.
- Lappalainen, T.; Laitinen, V.; Salmela, E.; Andersen, P.; Huoponen, K.; Savontaus, M.-L.; Lahermo, P. (2008). "Migration Waves to the Baltic Sea Region". Annals of Human Genetics 72 (3): 337–48. doi:10.1111/j.1469-1809.2007.00429.x. PMID 18294359.
- Malyarchuk, Boris; Derenko, Miroslava; Grzybowski, Tomasz; Lunkina, Arina; Czarny, Jakub; Rychkov, Serge; Morozova, Irina; Denisova, Galina; Miscicka-Sliwka, Danuta (2004). "Differentiation of Mitochondrial DNA and Y Chromosomes in Russian Populations". Human Biology 76 (6): 877–900. doi:10.1353/hub.2005.0021. PMID 15974299.
- Pakendorf, Brigitte; Morar, Bharti; Tarskaia, Larissa; Kayser, Manfred; Soodyall, Himla; Rodewald, Alexander; Stoneking, Mark (2002). "Y-chromosomal evidence for a strong reduction in male population size of Yakuts". Human Genetics 110 (2): 198–200. doi:10.1007/s00439-001-0664-4. PMID 11935328.
- Rootsi, Siiri; Zhivotovsky, Lev A; Baldovič, Marian; Kayser, Manfred; Kutuev, Ildus A; Khusainova, Rita; Bermisheva, Marina A; Gubina, Marina et al. (2006). "A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe". European Journal of Human Genetics 15 (2): 204–11. doi:10.1038/sj.ejhg.5201748. PMID 17149388.
- Wen, Bo; Xie, Xuanhua; Gao, Song; Li, Hui; Shi, Hong; Song, Xiufeng; Qian, Tingzhi; Xiao, Chunjie et al. (2004b). "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. doi:10.1086/386292.
- Xue, Y.; Zerjal, T; Bao, W; Zhu, S; Shu, Q; Xu, J; Du, R; Fu, S et al. (2005). "Male Demography in East Asia: A North-South Contrast in Human Population Expansion Times". Genetics 172 (4): 2431–9. doi:10.1534/genetics.105.054270. PMC 1456369. PMID 16489223.
|This section requires expansion. (December 2012)|
- ISOGG (2006). "Y-DNA Haplogroup Tree 2006".
- ISOGG (2007). "Y-DNA Haplogroup Tree 2007".
- ISOGG (2008). "Y-DNA Haplogroup Tree 2008".
- ISOGG (2009). "Y-DNA Haplogroup Tree 2009".
- ISOGG (2010). "Y-DNA Haplogroup Tree 2010".
- ISOGG (2011). "Y-DNA Haplogroup Tree 2011".
- The b2/b3 deletion in the AZFc region of the human Y-chromosome is a characteristic of Haplogroup N-M231 haplotypes. This deletion, however, appears to have occurred independently on four different occasions. Therefore this deletion should not be thought as a unique event polymorphism contributing to the definition of this branch of the Y-chromosome tree (ISOGG 2012).
- This table shows historic names for N-LLY22g from peer reviewed literature.
YCC 2002/2008 (Shorthand) N-LLY22g Jobling and Tyler-Smith 2000 12 Underhill 2000 VIII Hammer 2001 1U Karafet 2001 25 Semino 2000 Eu16 Su 1999 H5 Capelli 2001 F YCC 2002 (Longhand) N* YCC 2005 (Longhand) N YCC 2008 (Longhand) N1 YCC 2010r (Longhand) N1
- This table shows historic names for N-M128 from peer reviewed literature.
YCC 2002/2008 (Shorthand) N-M128 Jobling and Tyler-Smith 2000 12 Underhill 2000 VIII Hammer 2001 1U Karafet 2001 25 Semino 2000 Eu16 Su 1999 H5 Capelli 2001 F YCC 2002 (Longhand) N1 YCC 2005 (Longhand) N1 YCC 2008 (Longhand) N1a YCC 2010r (Longhand) N1a
- This branch is sometimes called N1b in early trees.
- This table shows historic names for N-M46 (AKA N-Tat) from peer reviewed literature.
YCC 2002/2008 (Shorthand) N-M46/N-TAT Jobling and Tyler-Smith 2000 12 Underhill 2000 VIII Hammer 2001 1I Karafet 2001 26 Semino 2000 Eu13 Su 1999 H5 Capelli 2001 F YCC 2002 (Longhand) N3* YCC 2005 (Longhand) N3 YCC 2008 (Longhand) N1c YCC 2010r (Longhand) N1c
- This table shows historic names for N-M178 from peer reviewed literature.
YCC 2002/2008 (Shorthand) N-M178 Jobling and Tyler-Smith 2000 16 Underhill 2000 VIII Hammer 2001 1I Karafet 2001 26 Semino 2000 Eu14 Su 1999 H5 Capelli 2001 F YCC 2002 (Longhand) N3a* YCC 2005 (Longhand) M178 YCC 2008 (Longhand) N1c1 YCC 2010r (Longhand) N1c1