Haplogroup N1a (mtDNA)

Haplogroup N1a
Possible time of origin 12,000 - 32,000 YBP[1]
Possible place of origin Southwest Asia
Ancestor N1a'e'I
Descendants N1a1
Defining mutations 152, 669, 2702, 5315, 8901, 16147G, 16172, 16248, 16355[2]

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

Contents

Origin

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

Two competing scenarios exist for the spread of the Neolithic from the Near East to Europe:

  1. Demic diffusion (in which farming is brought by farmers), for example Renfrew's Anatolian hypothesis
  2. Cultural diffusion (in which farming is spread by the passage of ideas), which is the assumption in Alinei's Paleolithic Continuity Theory.

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 the 42 specimens were found to be members of haplogroup N1a[5][6] A separate study analyzed 22 skeletons from European hunter-gatherer sites dated 13400-2300 BC. Most of these remains were members of 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]

While no modern population is a close match to the LBK findings, the authors claim that the Linear Pottery population is most closely affiliated with modern Near East populations.[6] Given this affiliation and the group's distinctiveness from hunter-gatherers, 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]

Historical Evidence

Seven of 42 skeletons from Linear Pottery Culture sites were found to be members of the N1a haplogroup (see Neolithic European section). N1a was also identified in remains from 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]

Distribution

Haplogroup N1a is widely distributed throughout Eurasia and Eastern Africa and is divided into the European/Central Asian and African/South Asian branches based on specific genetic markers.

Near East

Relatively high frequencies of N1a are found in the modern population of Saudi Arabia. Estimates range from 2.4%[14] to 4%.[15] 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%,[14] 5.2%,[16] and 6.9%.[15] Yemen is noted for high haplotype diversity within the population.[4][16]

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.[14]

Europe

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,[17] 9.24% of the population on the island of Cres,[18] 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%).[19] Russia as a whole has a frequency of 0.7%.[20] 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.[21]

Asia

Analysis of modern Siberian populations revealed a 1.2% prevalence in Altaians, 0.2% in the Buryats,[22] and 0.9% in the Khanty people.[23] In India, N1a was only identified in Indo-Aryan speakers at a frequency of 8.3%.[11] All but one of the N1a individuals were members of the Havik group, a Brahmin upper caste.

Africa

Individuals with N1a have been identified in Egypt, Ethiopia, Eritrea, Somalia, Kenya, and Tanzania.[5] In Ethiopia, 2.2% of the population was found be members of N1a, but the haplogroup was only identified in Semitic speakers.[16] In Egypt, 0.8% of the population were found to be members of N1a.[14] A study of Kenyans found a prevalence of N1a to be around 10% in the Rendille population, and it was around 1% in the Maasai.[24]

Subclades

Tree

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.[25]

The tree of N1a has two distinct branches: Africa/South Asia and Europe with a Central Asian subcluster.[5][22] 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 to 22400 YBP. Subclade N1a1a is denoted by marker 16320, and is therefore associated with the "European" N1a branch. Petraglia estimates that N1a1a arose between 11000 to 25000 YBP.

See also

Evolutionary 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   A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T

References

  1. ^ a b c d 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: 304. doi:10.1186/1471-2148-10-304. ISSN 1471-2148. PMC 2964711. PMID 20939899. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2964711. 
  2. ^ a b Van Oven, Mannis; Kayser, Manfred (13 October 2008). "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. 
  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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288566. 
  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. http://books.google.com/books?id=x6o4XLIKN0UC. 
  5. ^ a b c d 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. doi:10.1126/science.1118725. ISSN 1095-9203. PMID 16284177. http://www.sciencemag.org/content/310/5750/1016. 
  6. ^ a b 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2976717. 
  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. doi:10.1126/science.1176869. PMID 19729620. 
  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. 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. doi:10.1126/science.1123984. 
  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. ^ a b 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; an international record of research 76 (1): 109–25. PMID 15222683. 
  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". American Journal of Physical Anthropology 134 (3): 354–68. doi:10.1002/ajpa.20677. PMID 17632797. 
  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. doi:10.1371/journal.pone.0011898. PMC 2912848. PMID 20689597. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2912848. 
  14. ^ 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: 45. doi:10.1186/1471-2148-8-45. PMC 2268671. PMID 18269758. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2268671. 
  15. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1810519. 
  16. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182106. 
  17. ^ 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". Croatian medical journal 46 (4): 502–13. PMID 16100752. http://www.cmj.hr/2005/46/4/16100752.pdf. 
  18. ^ 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. 
  19. ^ Bermisheva, M. A.; Tambets, K.; Villems, R.; Khusnutdinova, E. K. (2002). "Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga–Ural Region". Molecular Biology 36 (6): 802–12. doi:10.1023/A:1021677708482. http://www.ebc.ee/EVOLUTSIOON/publications/Bermisheva2002.pdf. 
  20. ^ Malyarchuk, Boris; Derenko, Miroslava; Denisova, Galina; Kravtsova, O. (10 May 2010). "Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia". Molecular Biology and Evolution (United Kingdom: Oxford University Press) 27 (10): 2220–6. doi:10.1093/molbev/msq065. ISSN 0737-4038. PMID 20457583. http://mbe.oxfordjournals.org/content/27/10/2220. Retrieved 28 Feb 2011. 
  21. ^ 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. 
  22. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2265662. 
  23. ^ 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. 
  24. ^ Castrì, Loredana; Garagnani, Paolo; Useli, Antonella; Pettener, Davide; Luiselli, Donata (2008). "Kenyan crossroads: migration and gene flow in six ethnic groups from Eastern Africa". Journal of Anthropological Sciences (Istituto Italiano di Antropologia) 86: 189–92. ISSN 1827-4765. PMID 19934476. http://www.isita-org.com/jass/Contents/2008%20vol86/12_Castri.pdf. Retrieved 28 Feb 2011. 
  25. ^ 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. 

External links