| Haplogroup N
|
|
| Time of origin | Approx. 71,000 YBP[1][2] |
| Place of origin | Asia[3][4][5][6][7][8] |
| Ancestor | L3 |
| Descendants | N1'5, N2, N9, N13, N14, N21, N22, A, I, O, W, R, X, Y |
|---|---|
| Defining mutationsDescendants | 8701, 9540, 10398, 10873, 15301[13] |
In human mitochondrial genetics, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M, is a descendant of 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 haplogroups that define the out of Africa migration and the subsequent spread to rest of the world. The global distribution of haplogroups N and M, indicates that very likely, there was one particularly major prehistoric migration of humans out of Africa, and both N and M were part of the same colonization process.[14]
In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup "Naomi".
Contents |
Origins
There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade),[9].However, whether or not the mutations which define haplogroup N itself first occurred within Asia or Africa has been a subject for ongoing discussion and study. According to a study by Gonzalez et al.[9]
The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized Eurasia were already present in Africa before the exit is puzzling.
Torroni et al 2006 state that Haplogroups M, N and R occurred somewhere between East Africa and the Persian Gulf.[15]
Asian origin hypothesis
The hypothesis of Asia as the place of origin of haplogroup N is supported by the following:
- Haplogroup N is found in all parts of the world but has low frequencies in Sub-Saharan Africa. According to a number of studies, the presence of Haplogroup N in Africa is most likely the result of back migration from Eurasia.[5]
- It would be paradoxical that haplogroup N had traveled all the distance to Australia or New World yet failed to affect other populations within Africa besides North Africans and Horn Africans.
- N1 is the only sub-clade of haplogroup N that has been observed in Africa. However N1a is the only one in East Africa: this haplogroup is even younger and is not restricted to Africa, N1a has also been detected in Southern Siberia and was found in a 2,500-year-old Scytho-Siberian burial in the Altai region.[16]
African origin hypothesis
According to Toomas Kivisild "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.[11]
Distribution
Haplogroup N is derived from the ancestral L3 haplotype that represents the 'Out of Africa' migration. Haplogroup N is the ancestral haplogroup to almost all European and Oceanian haplogroups in addition to many Asian and Amerindian ones. It is believed to have arisen at a similar time to haplogroup M. Subclades such as Haplogroup U6, are also found at moderate to low frequencies in the Northwest and East Africa, due to a back migration from Asia around 35,000 years ago.[2][4][7]
Subgroups distribution
Its derived haplogroups include the macro-haplogroup R (and its descendants) and haplogroups A, I, S, W, X, and Y.
- Haplogroup N1'5
- Haplogroup N1 - found in West Eurasia.[17].
- Haplogroup N1b - found in Middle East, Egypt, Caucasus and Europe
- N1a'c'd'e'I
- Haplogroup N1c - Northern Saudi Arabia, Turkey [18]
- N1a'd'e'I
- Haplogroup N1d - Hindustan
- N1a'e'I
- Haplogroup N1a - Arabian Peninsula, Kenya, Ethiopia and Egypt.[18] Found also in Central Asia and Southern Siberia.[16]
- N1e'I
- Haplogroup N1e - found in Buryats[16]
- Haplogroup I [1] - West Eurasia and South Asia.
- Haplogroup N5 - found in India.[19]
- Haplogroup N1 - found in West Eurasia.[17].
- Haplogroup N2
- Haplogroup N2a - small clade found in West Europe.[20]
- Haplogroup N2b (proposed)
- Haplogroup W [2] - found in Western Eurasia and South Asia[21]
- Haplogroup N9 - found in Far East.[17].
- Haplogroup N9a - East Asia, Southeast Asia and Central Asia.
- Haplogroup N9b - found in Japan.
- Haplogroup Y [3] - found especially among Nivkhs and Ainus, with a moderate frequency among Koreans, Mongols, Tungusic peoples, Koryaks, Itelmens, Chinese, Japanese, Tajiks, Island Southeast Asians (including Taiwanese aborigines), and some Turkic peoples[16]
- Haplogroup O or N12- found in Australia and Flores, Indonesia.
- Haplogroup N13 - Australia[4]
- Haplogroup N14 - Australia[22]
- Haplogroup N21 - Southeast Asia
- Haplogroup N22 - Southeast Asia
- Haplogroup A [5] - found in Central and East Asia, as well as among Native Americans.
- Haplogroup S [6] - extended among Australian Aborigines
- Haplogroup X [7] - most common in Western Eurasia[17].
- Haplogroup X1 - found primarily in North Africa as well as in some populations of the Levant, notably among Druzes
- Haplogroup X2 - found in Western Eurasia, Siberia and among Native Americans
- Haplogroup R [8] - a very extended and diversified macro-haplogroup.
Additionally there are several unnamed N* lineages in South Asia, Australia and among the Ket people of central Siberia[17].
Subclades
Tree
This phylogenetic tree of haplogroup N subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[13] and subsequent published research.
- N
References
- ^ Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock Supplementary material. 2009. http://download.cell.com/AJHG/mmcs/journals/0002-9297/PIIS0002929709001633.mmc1.pdf.
- ^ a b Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock. 2009. doi:. http://www.cell.com/AJHG/abstract/S0002-9297(09)00163-3.
- ^ Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:. http://66.102.1.104/scholar?hl=en&lr=&q=cache:nfrkio5UPzMJ:www4.ncsu.edu/~womcmill/GenomeScience_Papers/Macaulayetal(2005)Science.pdf.: "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."
- ^ a b Richards et al. (2006), A Model for the Dispersal of Modern Humans out of Africa, Nucleic Acids and Molecular Biology, 10.1007/3-540-31789-9: "subclades. L3b d, L3e and L3f, for instance, are clearly of African origin, whereas haplogroup N is of apparently Eurasian origin"
- ^ a b Gonder et al (2006). Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages. http://mbe.oxfordjournals.org/cgi/content/full/24/3/757.: "the presence of haplogroups N1 and J in Tanzania suggest "back" migration from the Middle East or Eurasia into eastern Africa, which has been inferred from previous studies of other populations in eastern Africa"
- ^ Olivieri et al. (2006), The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa, Science. 2006 Dec 15;314(5806):1767-70: "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"
- ^ a b Chandrasekar et al. (2007), YAP insertion signature in South Asia, Ann Hum Biol. 2007 Sep-Oct;34(5):582-6.
- ^ Abu-Amero et al. (2008), Mitochondrial DNA structure in the Arabian Peninsula, BMC Evolutionary Biology 2008
- ^ a b c Gonzalez et al. (2007), Mitochondrial lineage M1 traces an early human backflow to Africa, BMC Genomics 2007, 8:223 doi:10.1186/1471-2164-8-223
- ^ Watson (1997). Mitochondrial Footprints of Human Expansions in Africa. http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1715955&blobtype=pdf.
- ^ a b Kivisild et al (2003). The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379225.
- ^ Kivisild et al (2007). "Genetic Evidence of Modern Human Dispersals in South Asia". The Evolution and History of Human Populations in South Asia. http://books.google.com/books?id=Qm9GfjNlnRwC&printsec=frontcover#PPA234,M1.
- ^ a b van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386-E394. PMID 18853457 doi:10.1002/humu.20921. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved 2009-05-20.
- ^ Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:. http://www.sciencemag.org/cgi/content/abstract/308/5724/1034.
- ^ Torroni et al (2006). Harvesting the fruit of the human mtDNA tree. doi:.
- ^ a b c d Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, Galina Denisova, Irina Dambueva, Maria Perkova, Choduraa Dorzhu, Faina Luzina, Hong Kyu Lee, Tomas Vanecek, Richard Villems, and Ilia Zakharov, "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations." American Journal of Human Genetics, 2007 November; 81(5): 1025–1041.
- ^ a b c d Ian Logan's mtDNA site
- ^ a b Abu-Amero et al. 2008 February. "Mitochondrial DNA structure in the Arabian Peninsula", BMC Evolutionary Biology. 8(45): 52.
- ^ Malliya gounder Palanichamy et al. 2004, Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia, Am J Hum Genet. 2004 December; 75(6): 966–978.
- ^ Turchi, Chiara et al.2008, Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing, International Journal of Legal Medicine, 122, Nº3, May 08, 199-204(6)
- ^ Mait Metspalu et al. Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genetics, 2004
- ^ Melanie J. Pierson et al. 2006, Deciphering Past Human Population Movements in Oceania: Provably Optimal Trees of 127 mtDNA Genomes, MBE Advance Access published July 19, 2006.
See also
- Genealogical DNA test
- Genetic Genealogy
- Human mitochondrial genetics
- Population Genetics
- Human mitochondrial DNA haplogroups
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Human mitochondrial DNA (mtDNA) haplogroups (by ethnic groups · famous haplotypes) |
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| Mitochondrial Eve (L) | ||||||||||||||||||||||||||||||||
| L0 | 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 | Former Clusters IWX | ||||||||||||||||||||||||||||
External links
- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Haplogroup N
- Spread of Haplogroup N, from National Geographic
- Kivisild et al 2007 Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis
- Katherine Borges' The Haplogroup N mtDNA Study at Family Tree DNA
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