Haplogroup N (mtDNA)

Haplogroup N
Possible time of origin	Approx. 71,000 YBP[1][1]
Possible place of origin	Asia[2][3][4][5][6] or East Africa[7][8]
Ancestor	L3
Descendants	N1'5, N2, N8, N9, N10, N11, N13, N14, N21, N22, A, I, O, R, S, X, Y, W
Defining mutations	8701, 9540, 10398, 10873, 15301[9]

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.^[10]

Origins

Suggested routes of the initial settlement of Europe based on mtDNA haplogroups M and N, Metspalu et al. 2004. A major population split near the Persian Gulf would explain the ubiquity of Haplogroup N and the absence of Haplogroup M in West Eurasia

There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade).^[11] 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.^[11]

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.^[12]

Also related to the origins of haplogroup N is whether ancestral haplogroups M, N and R were part of the same migration out of Africa, or whether Haplogroup N left Africa via the Northern route through the Levant, and M left Africa via Horn of Africa. This theory was suggested because haplogroup N is by far the predominant haplogroup in Western Eurasia, and haplogroup M is absent in Western Eurasia, but is predominant in India and is common in regions East of India. However, the mitochondrial DNA variation in isolated "relict" populations in southeast Asia and among Indigenous Australians supports the view that there was only a single dispersal from Africa. Southeast Asian populations and Indigenous Australians all possess deep rooted clades of both haplogroups M and N.^[10] The distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania therefore supports a three-founder-mtDNA scenario and a single migration route out of Africa.^[13] These findings also highlight the importance of Indian subcontinent in the early genetic history of human settlement and expansion.^[14]

Asian origin hypothesis

The hypothesis of Asia as the place of origin of haplogroup N is supported by the following:

1. 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.^[4]
2. The oldest clades of macrohaplogroup N are found in Asia and Australia.
3. 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.
4. 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.^[15]
5. The mitochondrial DNA variation in isolated "relict" populations in southeast Asia supports the view that there was only a single dispersal from Africa.^[10] The distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa.^[13] These findings also highlight the importance of Indian subcontinent in the early genetic history of human settlement and expansion.^[14] Therefore N’s history is similar to M and R which have their most probably origin in South Asia.

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.^[7]

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 27,000 years ago.^[1][3]

In popular science

In the book The Real Eve, Stephen Oppenheimer refers to haplogroup N as "Nasreen" as haplogroup N may have arisen near the Persian Gulf. In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup "Naomi".

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.^[16]
    • Haplogroup N1b - found in Middle East, Egypt, Caucasus and Europe
    • N1a'c'd'e'I
      • Haplogroup N1c - Northern Saudi Arabia, Turkey ^[6]
      • N1a'd'e'I
        • Haplogroup N1d - India
        • N1a'e'I
          • Haplogroup N1a - Arabian Peninsula, Tanzania, Kenya, Ethiopia and Egypt.^[6] Found also in Central Asia and Southern Siberia.^[15]
          • N1e'I
            • Haplogroup N1e - found in Balochs,^[17] Burushos,^[17] and Buryats^[15]
            • Haplogroup I^[18] - West Eurasia and South Asia.
  • Haplogroup N5 - found in India.^[13]
• Haplogroup N2
  • Haplogroup N2a - small clade found in West Europe.^[19]
  • Haplogroup W^[20] - found in Western Eurasia and South Asia^[21]
• Haplogroup N8 - found in China.^[22]
• Haplogroup N9 - found in Far East.^[16]
  • Haplogroup N9a - East Asia, Southeast Asia and Central Asia.
  • Haplogroup N9b - found in Japan and the lower basin of the Amur River.
  • Haplogroup Y^[23] - found especially among Nivkhs, Ulchs, Negidals, Ainus, and the population of Nias Island, with a moderate frequency among other Tungusic peoples, Koreans, Mongols, Koryaks, Itelmens, Chinese, Japanese, Tajiks, Island Southeast Asians (including Taiwanese aborigines), and some Turkic peoples^[15]
• Haplogroup N10 - found in China and Southeast Asia.^[22]
• Haplogroup N11 - found in China and the Philippines.^[24]
• Haplogroup O or N12- found among indigenous Australians and the Floresians of Indonesia.
• Haplogroup N13 - indigenous Australians^[25]
• Haplogroup N14 - indigenous Australians^[26]
• Haplogroup N21 - In ethnic Malays from Malaysia and Indonesia.^[27]
• Haplogroup N22 - Southeast Asia and Japan^[28]
• Haplogroup A^[29] - found in Central and East Asia, as well as among Native Americans.
• Haplogroup S^[30] - extended among indigenous Australians
• Haplogroup X^[31] - found most often in Western Eurasia, but also present in the Americas.^[16]
  • 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^[32] - a very extended and diversified macro-haplogroup.

Additionally, there are some unnamed N* lineages in South Asia, among indigenous Australians and the Ket people of central Siberia.^[16]

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^[9] and subsequent published research.

• N
  • N1'5
    • N1
      • N1a'c'd'e'I
        • N1a'd'e'I
          • N1a'e'I
            • N1a
              • N1a1
                • N1a1a
            • N1e'I
              • I
              • N1e
          • N1d
        • N1c
      • N1b
        • N1b1
          • N1b1a
          • N1b1b
          • N1b1c
            • N1b1d
        • N1b2
    • N5
  • N2
    • N2a
    • W
  • N9
    • N9a
      • N9a1'3
        • N9a1
        • N9a3
      • N9a2'4'5
        • N9a2
          • N9a2a'b
            • N9a2a
            • N9a2b
          • N9a2c
          • N9a2d
        • N9a4
        • N9a5
      • N9a6
        • N9a6a
    • N9b
      • N9b1
        • N9b1a
        • N9b1b
        • N9b1c
          • N9b1c1
      • N9b2
      • N9b3
    • Y
  • N13
  • N14
  • N21
  • N22
  • A
  • O
    • O1
  • S
  • X
  • R

See also

References

External links

• Haplogroup N
  • Mannis van Oven's - mtDNA subtree N
  • Spread of Haplogroup N, from National Geographic
  • Hudjashov, G.; Kivisild, T.; Underhill, P. A.; Endicott, P.; Sanchez, J. J.; Lin, A. A.; Shen, P.; Oefner, P.; Renfrew, C.; Villems, R.; Forster, P. (2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis". Proceedings of the National Academy of Sciences 104 (21): 8726–30. doi:10.1073/pnas.0702928104. PMC 1885570. PMID 17496137. 
  • Katherine Borges' The Haplogroup N mtDNA Study at Family Tree DNA
• General
  • Ian Logan's Mitochondrial DNA Site