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The mutations that define the subclade N-M46 (old name N3) 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.<ref name=rootsi2006 /> Haplogroup N-M46 is approximately 14,000 years old.
The mutations that define the subclade N-M46 (old name N3) 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.<ref name=rootsi2006 /> 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 Republic|Sakha (Yakutia) Republic]]. However, it is practically non-existent among many of the Yakuts' neighboring ethnic groups, such as [[Northern Tungusic languages|Tungusic speakers]]. It also has been detected in 2.4% (2/85) of a sample from Seoul, South Korea<ref name = "Katoh2004">{{cite journal |doi=10.1016/j.gene.2004.10.023 |title=Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis |year=2005 |last1=Katoh |first1=Toru |last2=Munkhbat |first2=Batmunkh |last3=Tounai |first3=Kenichi |last4=Mano |first4=Shuhei |last5=Ando |first5=Harue |last6=Oyungerel |first6=Ganjuur |last7=Chae |first7=Gue-Tae |last8=Han |first8=Huun |last9=Jia |first9=Guan-Jun |journal=Gene |volume=346 |pages=63–70 |pmid=15716011}}</ref> and in 1.4% (1/70) of a sample from Tokushima, Japan<ref name = "Hammer2005" />.
In Siberia, haplogroup N-M46 reaches a maximum frequency of approximately 90% among the [[Yakuts]], a Turkic people who live mainly in the [[Sakha Republic|Sakha (Yakutia) Republic]]. However, it is practically non-existent among many of the Yakuts' neighboring ethnic groups, such as [[Northern Tungusic languages|Tungusic speakers]]. It also has been detected in 2.4% (2/85) of a sample from Seoul, South Korea,<ref name = "Katoh2004">{{cite journal |doi=10.1016/j.gene.2004.10.023 |title=Genetic features of Mongolian ethnic groups revealed by Y-chromosomal analysis |year=2005 |last1=Katoh |first1=Toru |last2=Munkhbat |first2=Batmunkh |last3=Tounai |first3=Kenichi |last4=Mano |first4=Shuhei |last5=Ando |first5=Harue |last6=Oyungerel |first6=Ganjuur |last7=Chae |first7=Gue-Tae |last8=Han |first8=Huun |last9=Jia |first9=Guan-Jun |journal=Gene |volume=346 |pages=63–70 |pmid=15716011}}</ref> in 1.4% (1/70) of a sample from Tokushima, Japan<ref name = "Hammer2005" /> and in 5.8% (3/51) of a sample from Hmong in Laos.<ref name="PLos ONE">{{cite journal|title=Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes|journal=PLoS ONE|year=2011|month=August|pages=Table S1|doi=10.1371/journal.pone.0024282|url=http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0024282|accessdate=5 July 2012}}</ref>


The haplogroup N-M46 has a low diversity among Yakuts suggestive of a [[population bottleneck]] or [[founder effect]].<ref>{{cite journal |doi=10.1007/s00439-001-0664-4 |title=Y-chromosomal evidence for a strong reduction in male population size of Yakuts |year=2002 |last1=Pakendorf |first1=Brigitte |last2=Morar |first2=Bharti |last3=Tarskaia |first3=Larissa |last4=Kayser |first4=Manfred |last5=Soodyall |first5=Himla |last6=Rodewald |first6=Alexander |last7=Stoneking |first7=Mark |journal=Human Genetics |volume=110 |issue=2 |pages=198–200 |pmid=11935328}}</ref> 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-Baïkal area.<ref>{{cite journal |doi=10.1186/1471-2148-10-25 |title=Human evolution in Siberia: from frozen bodies to ancient DNA |year=2010 |last1=Crubézy |first1=Eric |last2=Amory |first2=Sylvain |last3=Keyser |first3=Christine |last4=Bouakaze |first4=Caroline |last5=Bodner |first5=Martin |last6=Gibert |first6=Morgane |last7=Röck |first7=Alexander |last8=Parson |first8=Walther |last9=Alexeev |first9=Anatoly |journal=BMC Evolutionary Biology |volume=10 |pages=25 |pmid=20100333 |pmc=2829035}}</ref>
The haplogroup N-M46 has a low diversity among Yakuts suggestive of a [[population bottleneck]] or [[founder effect]].<ref>{{cite journal |doi=10.1007/s00439-001-0664-4 |title=Y-chromosomal evidence for a strong reduction in male population size of Yakuts |year=2002 |last1=Pakendorf |first1=Brigitte |last2=Morar |first2=Bharti |last3=Tarskaia |first3=Larissa |last4=Kayser |first4=Manfred |last5=Soodyall |first5=Himla |last6=Rodewald |first6=Alexander |last7=Stoneking |first7=Mark |journal=Human Genetics |volume=110 |issue=2 |pages=198–200 |pmid=11935328}}</ref> 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-Baïkal area.<ref>{{cite journal |doi=10.1186/1471-2148-10-25 |title=Human evolution in Siberia: from frozen bodies to ancient DNA |year=2010 |last1=Crubézy |first1=Eric |last2=Amory |first2=Sylvain |last3=Keyser |first3=Christine |last4=Bouakaze |first4=Caroline |last5=Bodner |first5=Martin |last6=Gibert |first6=Morgane |last7=Röck |first7=Alexander |last8=Parson |first8=Walther |last9=Alexeev |first9=Anatoly |journal=BMC Evolutionary Biology |volume=10 |pages=25 |pmid=20100333 |pmc=2829035}}</ref>

Revision as of 19:40, 5 July 2012

Haplogroup N
Possible time of origin15,000 to 25,000 years BP
Possible place of originN in Far East,[1] N1b disputed and N1c disputed
AncestorNO
Defining mutationsM231
Highest frequenciesYakuts 75%, Nenets 75%, Finns 60%, Baltic States 45%,[2] Saami 40%, Russians 20%[3]

In human genetics, Haplogroup N is a Y-chromosome DNA haplogroup, defined by the presence of the marker M231. The b2/b3 deletion in the AZFc region of the human Y-chromosome is a characteristic of Haplogroup N 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.[1]

Origins

Haplogroup N is a descendant haplogroup of Haplogroup NO. Its emergence and the spread of its subclades are still not very well established. One research places the origins of this haplogroup arising from southeast Asia from over 19.4±4.8 ky years ago[4], and then migrating in a counter-clockwise path from modern day regions of Mongolia and northern China to as far as northeastern Europe. Other "Zhivotovsky EEMR" theories propose North Eastern Europe as a point of origin for N1b.[5] Another study hints Khakassia for N1c based on haplogroup N branches location (or with a much lesser probability the Ural mountains based on N1c frequencies).[6]

Mutations

Y-chromosomes that display the M231 mutation that defines Haplogroup N but do not display the LLY22g mutation that defines Haplogroup N1 are said to belong to Haplogroup N*. At present research, haplogroup N* Y-DNA has been found in 1.2% of a sample of 165 Han males from China.[7]

Males carrying the marker apparently moved northwards as the climate warmed in the Holocene. The absence of haplogroup N in the Americas indicates that its spread across Asia happened after the submergence of the Bering land bridge.[8]

Haplogroup N is the ancestral group for Haplogroup N1 (LLY22g) and its subclades, N1a, N1b, and N1c (formerly known as N1, N2, and N3, respectively).[1]

Distribution

Haplogroup N 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.[2] It is also carried by about 10% to 20% of Russians.[3]

Subclades

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[9] and subsequent published research.

  • NO
    • N (M231)
      • N*
      • N1 (LLY22g)
        • N1a (M128)
        • N1b (P43) Found in Siberia, Karelia & Finland
          • N1b1 (P63) Rare outside of Siberia
        • N1c (M46/Tat,P105) N1c* is very rare, found mainly in Asia.
          • N1c1 (M178, P298)
            • N1c1a (P21) Arose in Omogoj tribe of Yakuts less than 1300 years ago.
            • N1c1b (P67) Arose in Yakutian population less than 1300 years ago.
            • N1c1c (P119)
            • N1c1d (L708) Most common lineage in Europe

Haplogroup N1 (N-LLY22g)

Haplogroup N-LLY22g
Possible place of originAsia
AncestorN-M231
Defining mutationsLLY22g

Y-chromosomes that display the M231 and LLY22g mutations that define Haplogroup N and Haplogroup N1 but do not display any of the downstream mutations that define the subclades N1a (M128), N1b (P43), and N1c (TAT) are said to belong to Haplogroup N1*.

Haplogroup N1* reaches a frequency of up to 30% (13/43) among the Yizu of Butuo County, Sichuan Province in southwestern China.[10][11][12] Haplogroup N1* also has been found in samples of Han Chinese, but with widely varying frequency: 15.0% (6/40) Guangdong Han[10][11], 6.8% (3/44) Shaanxi Han[10][11], 3.6% (3/84) Taiwanese Han[10], 3.0% (5/166) Han[13]. Other populations in which representatives of haplogroup N1* have been found include Hani (4/34 = 11.8%)[13], Sibe (4/41 = 9.8%)[13], Tujia (2/49 = 4.1%)[10], Manchu (2/52 = 3.8%[10] - 2/35 = 5.7%[13]), Uyghur (2/70 = 2.9%[13] - 2/67 = 3.0%)[10], Tibetan (3/105 = 2.9%[10] - 3/35 = 8.6%[13]), Koreans (0/106 = 0.0% - 2/25 = 8%[4][13][14]), Vietnamese (2/70 = 2.9%)[10], Japanese (0/70 Tokushima - 2/26 = 7.7% Aomori),[10] Manchurian Evenk (0/26 = 0.0%[13] - 1/41 = 2.4%[10]), Altaians (0/50 Northern to 5/96 = 5.2% Southern, or 0/43 Beshpeltir to 5/46 = 10.9% Kulada)[10][15], Shorians (2/23 = 8.7%),[4] Khakas (5/181 = 2.8%),[4] Tuvinians (5/311 = 1.6%),[4] southern Borneo (1/40 = 2.5%),[4] Forest Nenets (1/89 = 1.1%),[4] Fiji (1/107 = 0.9%),[4] Yakuts (0/215 - 1/121 = 0.8%),[4] and Turks (1/523 = 0.2%).[4] In Turkey, the total of subclades of haplogroup N amounts to 4% of the male population. One individual who belongs either to N1*-LLY22g(xN1a-M128, N1b-P43, N1c-Tat) or to N*-M231(xN1-LLY22g) has been found in a sample of 77 males from Kathmandu, Nepal (1/77 = 1.3% N-M231(xN1a-M128, N1b-P43, N1c-Tat)).[16]

Haplogroup N1a (N-M128)

Haplogroup N-M128
Possible place of originAsia
AncestorN-LLY22g
Defining mutationsM128

This subclade is defined by the presence of the marker M128. It is found with low frequency among Manchu, Sibe, Manchurian Evenks, Koreans, northern Han Chinese, Buyei, and some Turkic peoples of Central Asia.

Haplogroup N1b (N-P43)

Haplogroup N1b 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.[17] 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.

Haplogroup N1b forms two distinctive subclusters of STR haplotypes, Asian and European, the latter now mostly distributed in Uralic-speakers and related populations.[4]

Haplogroup N1c (N-M46)

The mutations that define the subclade N-M46 (old name N3) 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.[4] 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 2.4% (2/85) of a sample from Seoul, South Korea,[18] in 1.4% (1/70) of a sample from Tokushima, Japan[10] and in 5.8% (3/51) of a sample from Hmong in Laos.[19]

The haplogroup N-M46 has a low diversity among Yakuts suggestive of a population bottleneck or founder effect.[20] 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-Baïkal area.[21]

Haplogroup N1c1 (N-M178)
See also: List of haplogroups of historical and famous figures § N (Y-DNA)

The subclade N-M178 is defined by the presence of markers M178 and P298. (It was previously known as N3a.) 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.[22][17]

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.[17]

See also

References

  1. ^ a b c ISOGG Y-DNA Haplogroup N and its Subclades
  2. ^ a b Macdonald Y Haplogroups of the World
  3. ^ a b http://ruthen-info.fatal.ru/files/mtDNA_Y_Chromosomes_in_Russian_Populations.pdf
  4. ^ a b c d e f g h i j k l Rootsi, Siiri; Zhivotovsky, Lev A; Baldovič, Marian; Kayser, Manfred; Kutuev, Ildus A; Khusainova, Rita; Bermisheva, Marina A; Gubina, Marina; Fedorova, Sardana A (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.
  5. ^ Mirabal, Sheyla; Regueiro, Maria; Cadenas, Alicia M; Cavalli-Sforza, L Luca; Underhill, Peter A; Verbenko, Dmitry A; Limborska, Svetlana A; Herrera, Rene J (2009). "Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia". European Journal of Human Genetics. 17 (10): 1260–73. doi:10.1038/ejhg.2009.6. PMC 2986641. PMID 19259129.
  6. ^ Stratification of Y-haplogroup N1c (Jaakko Häkkinen, August 5th, 2010) [1]
  7. ^ 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. 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.
  8. ^ Chiaroni, J.; Underhill, P. A.; Cavalli-Sforza, L. L. (2009). "Y chromosome diversity, human expansion, drift, and cultural evolution". Proceedings of the National Academy of Sciences. 106 (48): 20174. doi:10.1073/pnas.0910803106. PMC 2787129. PMID 19920170.
  9. ^ 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.
  10. ^ a b c d e f g h i j k l m 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.
  11. ^ a b c 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. 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.
  12. ^ Wen, Bo; Xie, Xuanhua; Gao, Song; Li, Hui; Shi, Hong; Song, Xiufeng; Qian, Tingzhi; Xiao, Chunjie; Jin, Jianzhong (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. doi:10.1086/386292.
  13. ^ a b c d e f g h Xue, Y.; Zerjal, T; Bao, W; Zhu, S; Shu, Q; Xu, J; Du, R; Fu, S; Li, P (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.
  14. ^ 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). Blagosklonny, Mikhail (ed.). "Lack of Association between Y-Chromosomal Haplogroups and Prostate Cancer in the Korean Population". PLoS ONE. 2 (1): e172. doi:10.1371/journal.pone.0000172. PMC 1766463. PMID 17245448.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  15. ^ 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.
  16. ^ 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. doi:10.1086/516757. PMC 1852741. PMID 17436243.
  17. ^ a b c 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.
  18. ^ Katoh, Toru; Munkhbat, Batmunkh; Tounai, Kenichi; Mano, Shuhei; Ando, Harue; Oyungerel, Ganjuur; Chae, Gue-Tae; Han, Huun; Jia, Guan-Jun (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.
  19. ^ "Human Migration through Bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum Revealed by Y Chromosomes". PLoS ONE: Table S1. 2011. doi:10.1371/journal.pone.0024282. Retrieved 5 July 2012. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: unflagged free DOI (link)
  20. ^ 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.
  21. ^ Crubézy, Eric; Amory, Sylvain; Keyser, Christine; Bouakaze, Caroline; Bodner, Martin; Gibert, Morgane; Röck, Alexander; Parson, Walther; Alexeev, Anatoly (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  22. ^ 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. doi:10.1111/j.1469-1809.2007.00429.x. PMID 18294359.

External links

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