Wikipedia

Haplogroup N1a (mtDNA)

Haplogroup N1a is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup N1a
Possible time of origin12,000-32,000 YBP[1]
Possible place of originNear East
AncestorN1a'e'I
DescendantsN1a1
Defining mutations152, 669, 2702, 5315, 8901, 16147G, 16172, 16248, 16355[2]

Origin

edit

N1a originated in the Near East [3] 12,000 to 32,000 years ago.[1] Specifically, the Arabian Peninsula is postulated as the geographic origin of N1a. This supposition is based on the relatively high frequency and genetic diversity of N1a in modern populations of the peninsula.[4] Exact origins and migration patterns of this haplogroup are still subject of some debate.

Debate on Origin of Neolithic Europeans

edit

Two main competing scenarios exist for the spread of the Neolithic package from the Near East to Europe: demic diffusion (in which agriculture was brought by farmers) or cultural diffusion (in which agriculture was spread through the passage of ideas).

N1a became particularly prominent in this debate when a team led by Wolfgang Haak analyzed skeletons from Linear Pottery Culture sites. The Linear Pottery Culture is credited with the first farming communities in Central Europe, marking the beginning of Neolithic Europe in the region some 7500 years ago. As of 2010, mitochondrial DNA analysis has been conducted on 42 specimens from five locations. Seven of these ancient individuals were found to belong to haplogroup N1a[5][6]

A separate study analyzed 22 skeletons from European hunter-gatherer sites dated 13400-2300 BC. Most of these fossils carried the mtDNA haplogroup U, which was not found in any of the Linear Pottery Culture sites. Conversely, N1a was not identified in any of the hunter-gatherer fossils, indicating a genetic distinction between Early European Farmers and late European hunter-gatherers.[7]

Haak's team concludes that "the transition to farming in central Europe was accompanied by a substantial influx of people from outside the region."[7] However, they note that haplogroup frequencies in modern Europeans are substantially different from early farming and late hunter-gatherer populations. This indicates that "the diversity observed today cannot be explained by admixture between hunter-gatherers and early farmers alone" and that "major demographic events continued to take place in Europe after the early Neolithic."

Critics of these studies claim that the LBK N1a specimens could have derived from local communities established in Europe before the introduction of farming. Ammerman's team voiced concern due to some of the LBK specimens coming from communities several hundred years after farming was first established in the region;[8] a rebuttal was given.[9]

In 2010, researchers led by Palanichamy conducted a genetic and phylogeographic analysis of N1a. Based on the results, they conclude that some of the LBK samples were indigenous to Europe while others may have resulted from 'leapfrog' colonization.[1] Deguilloux's team agreed with Haak's conclusion on a genetic discontinuity between ancient and modern Europeans. However, they consider demic diffusion, cultural diffusion, and long-distance matrimonial exchanges all equally plausible explanations for the current genetic findings.[10]

Ancient DNA

edit

Seven of 42 skeletons from Linear Pottery Culture (Linearbandkeramik) sites were found to be members of the N1a haplogroup (see Neolithic European). N1a was also identified in skeletal remains within a 6200-year-old megalithic long mound near Prissé-la-Charrière, France.[10] A 2500-year-old fossil of a Scytho-Siberian in the Altai Republic, easternmost representative of the Scythians, was found to be a member of N1a1.[11] A study of a 10th and 11th century Hungarians found that N1a1a1 was present in high-status individuals but absent from commoners.[12] One of thirteen skeletons analyzed from a medieval cemetery dated 1250-1450 AD in Denmark was found to be a member of subclade N1a1a.[13]

The N1 subclade has also been found in various other fossils that were analysed for ancient DNA, including specimens associated with the Starčevo (N1a1a1, Alsónyék-Bátaszék, Mérnöki telep, 1/3 or 33%), Linearbandkeramik (N1a1a1a3, Szemely-Hegyes, 1/1 or 100%; N1a1b/N1a1a3/N1a1a1a2/N1a1a1/N1a1a1a, Halberstadt-Sonntagsfeld, 6/22 or ~27%), Alföld Linear Pottery (N1a1a1, Hejőkürt-Lidl, 1/2 or 50%), Transdanubian Late Neolithic (N1a1a1a, Apc-Berekalja, 1/1 or 100%), Protoboleráz (N1a1a1a3, Abony, Turjányos-dűlő, 1/4 or 25%), Iberia Early Neolithic cultures (N1a1a1, Els Trocs, 1/4 or 25%),[14] Rinaldone-Gaudo Eneolithic cultures (N1a1a1a3, Monte San Biagio, 1/1 or 100%).[15]

Distribution

edit

Haplogroup N1a is widely distributed throughout Europe, Northeast Africa, the Near East and Central Asia. It is divided into the European/Central Asian and African/South Asian branches based on specific genetic markers.

Near East

edit

Relatively high frequencies of N1a are found in the modern population of Saudi Arabia. Estimates range from 2.4%[16] to 4%.[17] Regional analysis revealed that the haplogroup was most common in the center of the country. Haplotype diversity is noted for being higher here than elsewhere.[4]

Frequencies of N1a in Yemen are relatively high, with estimates varying by study: 3.6%,[16] 5.2%,[18] and 6.9%.[17] Yemen is noted for high haplotype diversity within the population.[4][18]

Elsewhere in the Near East, prevalence of N1a is lower. A 2008 article cited population frequencies of 1.1% in Qatar, 0.3% in Iran, and 0.2% in Turkey.[16]

Europe

edit

N1a is a rare haplogroup that currently appears in only 0.2% of European populations.[5] Pockets of higher frequencies exist such as in Croatia where 0.7% of mainland Croatians,[19] 9.24% of the population on the island of Cres,[20] and 1.9% of the population on the island of Brač are members of N1a. In the Volga-Ural region of Russia, N1a is most prominent in the Komi-Permyaks (9.5%) followed by the Bashkirs (3.6%), Chuvash (1.8%), and Tatars (0.4%).[21] In another study of Volga Tatars, haplogroup N1a was found in 1.6% (2/126) of a sample of Mishar Tatars from Buinsk in western Tatarstan (1/126 N1a1a1a1, 1/126 N1a3a3), but it was not observed in a sample of 71 Kazan Tatars from Aznakayevo in eastern Tatarstan, yielding an overall figure of 1.0% N1a (2/197) among Volga Tatars.[22] Russia as a whole has a frequency of 0.7%.[23]

A study of 542 individuals in Portugal found an N1a frequency of 0.37%. Only 0.11% of individuals analyzed in Scotland were members of the haplogroup.[24]

Asia

edit

Analysis of modern Siberian populations revealed a 1.2% prevalence in Altaians, 0.2% in the Buryats,[25] and 0.9% in the Khanty people.[26]

In India, N1a was identified in 4 members of the Havik group, 2 members from Andhra Pradesh,[5] 2 members from West Bengal and 1 member from Tamil Nadu.[1] The members of the Havik group belong to the African/South Asian branch while one member from Andhra Pradesh and others from West Bengal and Tamil Nadu belong to the European Branch.

Haplogroup N1a1 has been observed in 2.9% (4/138) of a sample of Kyrgyz from Kizilsu Kyrgyz Autonomous Prefecture, Xinjiang, China.[27]

Africa

edit

N1a is concentrated among Afro-Asiatic-speaking populations in Northeast Africa, occurring in Eritrea, Ethiopia, Kenya, Tanzania, Somalia and Sudan. The clade also occurs at very low frequencies among a few neighboring groups due to historical interactions.[5][28] In Sudan, it is found among the Arakien (5.9%) and Nubians (3.4%).[28] In Ethiopia, 2.2% of the population are N1a carriers, with the haplogroup identified amongst Semitic speakers.[18] In Egypt, N1a has been observed in 0.8% of inhabitants.[16] In Kenya, the haplogroup is carried by around 10% of the Cushitic-speaking Rendille, as well as 1% of the Maasai. [29] Some N1a has also been observed in Tanzania.[5]

Additionally, haplogroup N1a is found among the Socotri (6.2%).[30]

Subclades

edit

Tree

edit

This phylogenetic tree of haplogroup N1a subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.[31]

  • N
    • N1'5
      • N1
        • N1a'c'd'e'I
          • N1a'd'e'I
            • N1a'e'I
              • N1a
                • N1a1
                  • N1a1a
                    • N1a1a1
                      • N1a1a1a
                    • N1a1a2
                    • N1a1a3
                  • N1a1b

The tree of N1a has two distinct branches: Africa/South Asia and Europe with a Central Asian subcluster.[5][25] However, the African branch has members in southern Europe, and the European branch has members in Egypt and the Near East. The Africa/South Asia branch is characterized by the 16147G mutation, whereas the European branch is characterized by 16147A, 3336 and 16320. The Central Asian subcluster is an offshoot of the European branch that is characterized by marker 16189.

Subclade N1a1 is associated with mutation 16147A.[1][4] Palanichamy calculates N1a1 to have emerged between 8900 and 22400 YBP (Years Before Present). Subclade N1a1a is denoted by marker 16320, and is therefore associated with the European N1a branch. Petraglia estimates that N1a1a arose between 11000 and 25000 YBP.

See also

edit

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

edit
  1. ^ a b c d e Palanichamy, Malliya Gounder; Zhang, Cai-Ling; Mitra, Bikash; Malyarchuk, Boris; Derenko, Miroslava; Chaudhuri, Tapas Kumar; Zhang, Ya-Ping (12 October 2010). "Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers". BMC Evolutionary Biology. 10 (1): 304. Bibcode:2010BMCEE..10..304P. doi:10.1186/1471-2148-10-304. ISSN 1471-2148. PMC 2964711. PMID 20939899.
  2. ^ a b Van Oven, Mannis; Kayser, Manfred (13 October 2008) [2009]. "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. ISSN 1098-1004. PMID 18853457. S2CID 27566749.
  3. ^ Richards, Martin; Macaulay, Vincent; Hickey, Eileen; Vega, Emilce; Sykes, Bryan; Guida, Valentina; Rengo, Chiara; Sellitto, Daniele; et al. (16 October 2000). "Tracing European Founder Lineages in the Near Eastern mtDNA Pool". American Journal of Human Genetics. 67 (5): 1251–76. doi:10.1016/S0002-9297(07)62954-1. ISSN 0002-9297. PMC 1288566. PMID 11032788.
  4. ^ a b c d Petraglia, Michael; Rose, Jeffrey (2009). The Evolution of Human Populations in Arabia: Paleoenvironments, Prehistory and Genetics. Springer. pp. 82–3. ISBN 978-90-481-2719-1.
  5. ^ a b c d e f Haak, Wolfgang; Forster, Peter; Bramanti, Barbara; Matsumura, Shuichi; Brandt, Guido; Tänzer, Marc; Villems, Richard; Renfrew, Colin; et al. (2005). "Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites". Science. 310 (5750): 1016–8. Bibcode:2005Sci...310.1016H. doi:10.1126/science.1118725. ISSN 1095-9203. PMID 16284177. S2CID 11546893.
  6. ^ Haak, Wolfgang; Balanovsky, Oleg; Sanchez, Juan; Koshel, Sergey; Zaporozhchenko, Valery; Adler, Christina; Der Sarkissian, Clio; Brandt, Guido; et al. (2010). Penny, David (ed.). "Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities". PLOS Biology. 8 (11): e1000535. doi:10.1371/journal.pbio.1000536. ISSN 1544-9173. PMC 2976717. PMID 21085689.
  7. ^ a b Bramanti, Barbara; Thomas, M.; Haak, Wolfgang; Unterlaender, M.; Jores, P.; Tambets, K.; Antanaitis-Jacobs, I.; Haidle, M.; et al. (2009). "Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe's First Farmers". Science. 326 (5949): 137–40. Bibcode:2009Sci...326..137B. doi:10.1126/science.1176869. PMID 19729620. S2CID 206521424.
  8. ^ Ammerman, Albert J.; Pinhasi, Ron; Bánffy, Eszter (2006). "Comment on 'Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites'". Science. 312 (5782): 1875. Bibcode:2006Sci...312.....A. doi:10.1126/science.1123936. PMID 16809513.
  9. ^ Burger, Joachim; Gronenborn, Detlef; Forster, Peter; Matsumura, Shuichi; Bramanti, Barbara; Haak, Wolfgang (2006). "Response to Comment on 'Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites'". Science. 312 (5782): 1875. Bibcode:2006Sci...312.....B. doi:10.1126/science.1123984. S2CID 220083496.
  10. ^ a b Deguilloux, Marie-France; Soler, Ludovic; Pemonge, Marie-Hélène; Scarre, Chris; Joussaume, Roger; Laporte, Luc (2010). "News from the west: Ancient DNA from a French megalithic burial chamber". American Journal of Physical Anthropology. 144 (1): 108–18. doi:10.1002/ajpa.21376. PMID 20717990.
  11. ^ Ricaut, FX; Keyser-Tracqui, C; Bourgeois, J; Crubézy, E; Ludes, B (2004). "Genetic analysis of a Scytho-Siberian skeleton and its implications for ancient Central Asian migrations". Human Biology. 76 (1): 109–25. doi:10.1353/hub.2004.0025. PMID 15222683. S2CID 35948291.
  12. ^ Tömöry, Gyöngyvér; Csányi, Bernadett; Bogácsi-Szabó, Erika; Kalmár, Tibor; Czibula, Ágnes; Csősz, Aranka; Priskin, Katalin; Mende, Balázs; et al. (2007). "Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations" (PDF). American Journal of Physical Anthropology. 134 (3): 354–68. doi:10.1002/ajpa.20677. PMID 17632797. S2CID 1359107.
  13. ^ Melchior, Linea; Lynnerup, Niels; Siegismund, Hans R.; Kivisild, Toomas; Dissing, Jørgen; Hofreiter, Michael (2010). Hofreiter, Michael (ed.). "Genetic Diversity among Ancient Nordic Populations". PLOS ONE. 5 (7): e11898. Bibcode:2010PLoSO...511898M. doi:10.1371/journal.pone.0011898. PMC 2912848. PMID 20689597.
  14. ^ Mark Lipson; et al. (2017). "Parallel palaeogenomic transects reveal complex genetic history of early European farmers". Nature. 551 (7680): 368–372. Bibcode:2017Natur.551..368L. doi:10.1038/nature24476. PMC 5973800. PMID 29144465. Retrieved 1 November 2017.
  15. ^ Antonio, Margaret L.; Gao, Ziyue; M. Moots, Hannah (2019). "Ancient Rome: A genetic crossroads of Europe and the Mediterranean". Science. 366 (6466). Washington D.C.: American Association for the Advancement of Science (published November 8, 2019): 708–714. Bibcode:2019Sci...366..708A. doi:10.1126/science.aay6826. hdl:2318/1715466. PMC 7093155. PMID 31699931.
  16. ^ a b c d Abu-Amero, Khaled K; Larruga, José M; Cabrera, Vicente M; González, Ana M (2008). "Mitochondrial DNA structure in the Arabian Peninsula". BMC Evolutionary Biology. 8 (1): 45. Bibcode:2008BMCEE...8...45A. doi:10.1186/1471-2148-8-45. PMC 2268671. PMID 18269758.
  17. ^ a b Abu-Amero, Khaled K; González, Ana M; Larruga, Jose M; Bosley, Thomas M; Cabrera, Vicente M (2007). "Eurasian and African mitochondrial DNA influences in the Saudi Arabian population". BMC Evolutionary Biology. 7: 32. doi:10.1186/1471-2148-7-32. PMC 1810519. PMID 17331239.
  18. ^ a b c Kivisild, T; Reidla, M; Metspalu, E; Rosa, A; Brehm, A; Pennarun, E; Parik, J; Geberhiwot, T; et al. (2004). "Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears". The American Journal of Human Genetics. 75 (5): 752–70. doi:10.1086/425161. PMC 1182106. PMID 15457403.
  19. ^ Pericić, Marijana; Barać, Lovorka; Lauc, Irena Martinović; Klarić, Branka; Janićijević, Pavao; Rudan (2005). "Review of Croatian genetic heritage as revealed by mitochondrial DNA and Y chromosomal lineages" (PDF). Croatian Medical Journal. 46 (4): 502–13. PMID 16100752.
  20. ^ Jeran, N; Havas Augustin, D; Grahovac, B; Kapović, M; Metspalu, E; Villems, R; Rudan, P (2009). "Mitochondrial DNA heritage of Cres Islanders--example of Croatian genetic outliers". Collegium Antropologicum. 33 (4): 1323–8. PMID 20102088.
  21. ^ Bermisheva, M. A.; Tambets, K.; Villems, R.; Khusnutdinova, E. K. (2002). "Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga–Ural Region" (PDF). Molecular Biology. 36 (6): 802–12. doi:10.1023/A:1021677708482. S2CID 16959586. Archived from the original (PDF) on 2009-11-22.
  22. ^ Malyarchuk B, Derenko M, Denisova G, et al. (2010). "Phylogeography of the Y-chromosome haplogroup C in northern Eurasia". Annals of Human Genetics. 74 (6): 539–546. doi:10.1111/j.1469-1809.2010.00601.x. PMID 20726964. S2CID 40763875.
  23. ^ Malyarchuk, Boris; Derenko, Miroslava; Denisova, Galina; Kravtsova, Olga (10 May 2010). "Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia". Molecular Biology and Evolution. 27 (10): 2220–6. doi:10.1093/molbev/msq065. ISSN 0737-4038. PMID 20457583.
  24. ^ González, Ana M.; Brehm, Antonio; Pérez, José A.; Maca-Meyer, Nicole; Flores, Carlos; Cabrera, Vicente M. (2003). "Mitochondrial DNA affinities at the Atlantic fringe of Europe". American Journal of Physical Anthropology. 120 (4): 391–404. doi:10.1002/ajpa.10168. PMID 12627534.
  25. ^ a b Derenko, M; Malyarchuk, B; Grzybowski, T; Denisova, G; Dambueva, I; Perkova, M; Dorzhu, C; Luzina, F; et al. (2007). "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations". The American Journal of Human Genetics. 81 (5): 1025–41. doi:10.1086/522933. PMC 2265662. PMID 17924343.
  26. ^ Pimenoff, Ville N; Comas, David; Palo, Jukka U; Vershubsky, Galina; Kozlov, Andrew; Sajantila, Antti (2008). "Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers". European Journal of Human Genetics. 16 (10): 1254–64. doi:10.1038/ejhg.2008.101. PMID 18506205. S2CID 19488203.
  27. ^ Guo, Y.; Xia, Z.; Cui, W.; Chen, C.; Jin, X.; Zhu, B. Joint Genetic Analyses of Mitochondrial and Y-Chromosome Molecular Markers for a Population from Northwest China. Genes 2020, 11, 564. doi:10.3390/genes11050564
  28. ^ a b Mohamed, Hisham Yousif Hassan. "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan". University of Khartoum. Archived from the original (PDF) on 10 November 2020. Retrieved 16 April 2016.
  29. ^ Castrì, Loredana; Garagnani, Paolo; Useli, Antonella; Pettener, Davide; Luiselli, Donata (2008). "Kenyan crossroads: migration and gene flow in six ethnic groups from Eastern Africa" (PDF). Journal of Anthropological Sciences. 86: 189–92. ISSN 1827-4765. PMID 19934476. Retrieved 28 Feb 2011.
  30. ^ Černý, Viktor; et al. (2009). "Out of Arabia—the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity" (PDF). American Journal of Physical Anthropology. 138 (4): 439–447. doi:10.1002/ajpa.20960. PMID 19012329. Archived from the original (PDF) on 6 October 2016. Retrieved 14 June 2016.
  31. ^ Van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
edit
Retrieved from "https://en.wiki.x.io/w/index.php?title=Haplogroup_N1a_(mtDNA)&oldid=1233872031"