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Haplogroup N (mtDNA): Difference between revisions

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{{Infobox haplogroup|name=N|origin-date=unknown, approx. 65,000 years ago|origin-place=]<ref name=Gonzalez/><ref name="Richards2006">Richards et al. (2006), , Nucleic Acids and Molecular Biology, 10.1007/3-540-31789-9</ref><ref name=Chandrasekar>Chandrasekar et al. (2007), , Ann Hum Biol. 2007 Sep-Oct;34(5):582-6.</ref>or East Africa<ref name=Gonzalez/><ref name=watson>{{cite journal|title=Mitochondrial Footprints of Human Expansions in Africa|url=http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1715955&blobtype=pdf|year=1997|last=Watson}}</ref><ref name=kivisild>{{cite journal|last=Kivisild et al|year=2003|url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379225|title=The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations}}</ref><ref name=kivisild2007>{{cite book|chapterurl=http://books.google.com/books?id=Qm9GfjNlnRwC&printsec=frontcover#PPA234,M1|title= The Evolution and History of Human Populations in South Asia|last=Kivisild et al|chapter=Genetic Evidence of Modern Human Dispersals in South Asia|year=2007}}</ref>|ancestor=]|descendants=N1, ], ], ], ], ], ]|mutations=73, 7028, 11719, 12705, 14766, 16223}} {{Infobox haplogroup|name=N|origin-date=unknown, approx. 65,000 years ago|origin-place=]<ref>{{cite journal|last=Macaulay et al|title=Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes|year=2005|doi=10.1126/science.1109792|url=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."</ref><ref name="Richards2006">Richards et al. (2006), , 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"</ref><ref name=gonder>{{cite journal|url=http://mbe.oxfordjournals.org/cgi/content/full/24/3/757|year=2006|last=Gonder et al|title=Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages}}: "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"</ref><ref name=Olivieri>Olivieri et al. (2006), , 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"</ref><ref name=Chandrasekar>Chandrasekar et al. (2007), , Ann Hum Biol. 2007 Sep-Oct;34(5):582-6.</ref><ref>Abu-Amero et al. (2008), , BMC Evolutionary Biology 2008</ref>|ancestor=]|descendants=N1, ], ], ], ], ], ]|mutations=73, 7028, 11719, 12705, 14766, 16223}}
In ], '''Haplogroup N''' is a ]. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling ], is a descendant of the East African haplogroup ] In ], '''Haplogroup N''' is a ].An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling ], is a descendant of the East African haplogroup ]


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 ] migration and the subsequent ]. 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.<ref name=macaulay>{{cite journal|last=Macaulay et al|title=Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes|year=2005|doi=10.1126/science.1109792|url=http://66.102.1.104/scholar?hl=en&lr=&q=cache:nfrkio5UPzMJ:www4.ncsu.edu/~womcmill/GenomeScience_Papers/Macaulayetal(2005)Science.pdf}}</ref> 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 ] migration and the subsequent ]. 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.<ref name=macaulay>{{cite journal|last=Macaulay et al|title=Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes|year=2005|doi=10.1126/science.1109792|url=http://66.102.1.104/scholar?hl=en&lr=&q=cache:nfrkio5UPzMJ:www4.ncsu.edu/~womcmill/GenomeScience_Papers/Macaulayetal(2005)Science.pdf}}</ref>

==Origins==
There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade),<ref name=Gonzalez>Gonzalez et al. (2007), , BMC Genomics 2007, 8:223 doi:10.1186/1471-2164-8-223</ref>.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.<ref name=Gonzalez/>
<blockquote>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.</blockquote>
The authors of the study also state:
<blockquote>Another related disjunctive yet not settled is whether M and N (and its main branch R) arose inside or outside Africa.<ref name=Gonzalez/></blockquote>
Regarding the presence of haplogroups N in Tanzania, Gonder et al write:
<blockquote>
These 2 M and N haplogroup clades included a few Tanzanians (belonging to haplogroups M1, M, N1, and J), suggesting possible recent gene flow back into Africa and/or that ancestors of the Tanzanian populations may have been a source of migration of modern humans from Africa to other regions<ref name=gonder>{{cite journal|url=http://mbe.oxfordjournals.org/cgi/content/full/24/3/757|year=2006|last=Gonder et al|title=Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages}}</ref></blockquote>
Torroni et al 2006 state that Haplogroups M, N and R occurred somewhere between East Africa and the Persian Gulf.<ref>{{cite journal|title=Harvesting the fruit of the human mtDNA tree|doi=10.1016/j.tig.2006.04.001|year=2006|last=Torroni et al}}</ref>
===Asian origin hypothesis===
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.<ref name=gonder/>

===African origin hypothesis===
According to ] "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 ].<ref name=kivisild/>
===Dispersal===
A number of scholars had proposed that haplogroup M dispersed from Africa through the southern route across the ] along the coastal regions of Asia onwards to New Guinea and Australia. These studies suggested that the migrations of haplogroups M and N occurred separately with haplogroup N heading northwards from East Africa to the ]. However, numerous the results of numerous recent studies indicate that there was only one migration out of Africa and that haplogroups M and N were part of the same migration. This is based on the analysis of a number of relict populations along the proposed beachcombing route from Africa to Australia, all of which possessed both haplogroups N and M. <ref name=hudjashov>{{cite journal|url=http://www.pnas.org/content/104/21/8726.full|title=Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis|year =2007|last=Hudjashov, Kivisild et al}}</ref><ref name=macaulay/>


==Distribution== ==Distribution==

Revision as of 02:56, 18 April 2009

Haplogroup N
Possible time of originunknown, approx. 65,000 years ago
Possible place of originWest Asia
AncestorL3
DescendantsN1, A, I, W, R, X, Y
Defining mutations73, 7028, 11719, 12705, 14766, 16223

In human 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 the East African 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 colonization of the 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.

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 in West Asia at a similar time to haplogroup M. It is also present in the Horn of Africa at a low frequency, carried by a back migration into Africa dating ~30,000 years ago, along with Asian haplotype M1 and other Eurasian associated haplogroups.

Descendants of haplogroup N*

Its derived haplogroups include the macro-haplogroup R (and its descendants) and haplogroups N1, A, I, S, W, X, and Y.

List of descendants

  • Haplogroup N1 - found in West Eurasia. Most closely related to haplogroup X.
    • Haplogroup N1b
      • Haplogroup N1b1
      • Haplogroup N1b2
    • Haplogroup N1c
    • Haplogroup N1d
    • Haplogroup N1a
      • Haplogroup N1a1
        • Haplogroup N1a1a (proposed)
      • Haplogroup I
      • Haplogroup N1e
  • Haplogroup N5
  • Haplogroup N2
    • Haplogroup N2a
    • Haplogroup N2b (proposed)
  • Haplogroup N9 - found in East Asia. Most closely related to haplogroup R.
  • Haplogroup N12
    • Haplogroup N12a (proposed)
  • Haplogroup A - found in Central and East Asia, as well as among Native Americans.
  • Haplogroup R - a very extended and diversified macro-haplogroup.
  • Haplogroup S - found among Australian Aborigines
  • Haplogroup X - most common in Western Eurasia, it is closely related to haplogroup N1.
    • 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


Additionally there are several unnamed N* lineages in South Asia, Australia and among the Ket people of central Siberia.

References

  1. Macaulay; et al. (2005). "Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes" (PDF). doi:10.1126/science.1109792. {{cite journal}}: Cite journal requires |journal= (help); Explicit use of et al. in: |last= (help): "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."
  2. ^ 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"
  3. Gonder; et al. (2006). "Whole-mtDNA Genome Sequence Analysis of Ancient African Lineages". {{cite journal}}: Cite journal requires |journal= (help); Explicit use of et al. in: |last= (help): "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"
  4. 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"
  5. ^ Chandrasekar et al. (2007), YAP insertion signature in South Asia, Ann Hum Biol. 2007 Sep-Oct;34(5):582-6.
  6. Abu-Amero et al. (2008), Mitochondrial DNA structure in the Arabian Peninsula, BMC Evolutionary Biology 2008
  7. Macaulay; et al. (2005). "Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes" (PDF). doi:10.1126/science.1109792. {{cite journal}}: Cite journal requires |journal= (help); Explicit use of et al. in: |last= (help)
  8. ^ Ian Logan's mtDNA site
  9. 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
  10. 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.

See also

External links

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
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