Haplogroup N (mtDNA)

This article is about the human mtDNA haplogroup. For the human Y-DNA haplogroup, see Haplogroup N-M231.
Haplogroup N
Ancient dispersal of haplogroup L3, its descendant M and N lineages, and other mtDNA clades. Numbers represent thousand years before present.
Possible time of origin~55-70,000 YBP[1][2] or 50-65,000 YBP[3]
Possible place of originAsia[4][5][6][7][8] or East Africa[9][10][11]
AncestorL3
DescendantsN1'5, N2, N8, N9, N10, N11, N13, N14, N21, N22, A, I, O, R, S, X, Y, W
Defining mutations8701, 9540, 10398, 10873, 15301[12]

Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3.

All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature maternal haplogroups that define the theory of the recent African origin of modern humans and subsequent early human migrations around the world. The global distribution of haplogroups N and M indicates that there was likely at least one major prehistoric migration of humans out of Africa, with both N and M later evolving outside the continent.[7]

  1. ^ Soares, Pedro; Ermini, Luca; Thomson, Noel; Mormina, Maru; Rito, Teresa; Röhl, Arne; Salas, Antonio; Oppenheimer, Stephen; MacAulay, Vincent; Richards, Martin B. (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  2. ^ Soares, P; Alshamali, F; Pereira, J. B; Fernandes, V; Silva, N. M; Afonso, C; Costa, M. D; Musilova, E; MacAulay, V; Richards, M. B; Cerny, V; Pereira, L (2011). "The Expansion of mtDNA Haplogroup L3 within and out of Africa". Molecular Biology and Evolution. 29 (3): 915–927. doi:10.1093/molbev/msr245. PMID 22096215.
  3. ^ Vai S, Sarno S, Lari M, Luiselli D, Manzi G, Gallinaro M, Mataich S, Hübner A, Modi A, Pilli E, Tafuri MA, Caramelli D, di Lernia S (March 2019). "Ancestral mitochondrial N lineage from the Neolithic 'green' Sahara". Sci Rep. 9 (1): 3530. Bibcode:2019NatSR...9.3530V. doi:10.1038/s41598-019-39802-1. PMC 6401177. PMID 30837540.
  4. ^ MacAulay, V.; Hill, C; Achilli, A; Rengo, C; Clarke, D; Meehan, W; Blackburn, J; Semino, O; et al. (2005). "Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes" (PDF). Science. 308 (5724): 1034–36. Bibcode:2005Sci...308.1034M. doi:10.1126/science.1109792. PMID 15890885. S2CID 31243109. Haplogroup L3 (the African clade that gave rise to the two basal non-African clades, haplogroups M and N) is 84,000 years old, and haplogroups M and N themselves are almost identical in age at 63,000 years old, with haplogroup R diverging rapidly within haplogroup N 60,000 years ago.
  5. ^ Richards, Martin; Bandelt, Hans-Jürgen; Kivisild, Toomas; Oppenheimer, Stephen (2006). "A Model for the Dispersal of Modern Humans out of Africa". In Bandelt, Hans-Jürgen; Macaulay, Vincent; Richards, Martin (eds.). Human Mitochondrial DNA and the Evolution of Homo sapiens. Nucleic Acids and Molecular Biology. Vol. 18. pp. 225–65. doi:10.1007/3-540-31789-9_10. ISBN 978-3-540-31788-3. subclades. L3b d, L3e and L3f, for instance, are clearly of African origin, whereas haplogroup N is of apparently Eurasian origin
  6. ^ Cite error: The named reference gonder was invoked but never defined (see the help page).
  7. ^ a b Olivieri, A.; Achilli, A.; Pala, M.; Battaglia, V.; Fornarino, S.; Al-Zahery, N.; Scozzari, R.; Cruciani, F.; Behar, D. M.; Dugoujon, J.-M.; Coudray, C.; Santachiara-Benerecetti, A. S.; Semino, O.; Bandelt, H.-J.; Torroni, A. (2006). "The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa". Science. 314 (5806): 1767–70. Bibcode:2006Sci...314.1767O. doi:10.1126/science.1135566. PMID 17170302. S2CID 3810151. The scenario of a back-migration into Africa is supported by another feature of the mtDNA phylogeny. Haplogroup M's Eurasian sister clade, haplogroup N, which has a very similar age to M and no indication of an African origin
  8. ^ Cite error: The named reference Abu-Amero was invoked but never defined (see the help page).
  9. ^ Kivisild T, Rootsi S, Metspalu M, et al. (2003). "The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations". American Journal of Human Genetics. 72 (2): 313–32. doi:10.1086/346068. PMC 379225. PMID 12536373."Also, the lack of L3 lineages other than M and N in India and among non-African mitochondria in general suggests that the earliest migration(s) of modern humans already carried these two mtDNA ancestors, via a departure route over the horn of Africa."
  10. ^ Kivisild; et al. (2007). "Genetic Evidence of Modern Human Dispersals in South Asia". The Evolution and History of Human Populations in South Asia. Springer. ISBN 9781402055621.
  11. ^ Osman, Maha M.; et al. "Mitochondrial HVRI and whole mitogenome sequence variations portray similar scenarios on the genetic structure and ancestry of northeast Africans" (PDF). Institute of Endemic Diseases. Meta Gene. Archived from the original (PDF) on 2021-06-25. Retrieved 2021-05-17.
  12. ^ van Oven M, Kayser M (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.