Haplogroup N (mtDNA)

Haplogroup N
Possible time of origin	unknown, approx. 65,000 years ago
Possible place of origin	West Asiaor East Africa
Ancestor	L3
Descendants	N1'5, N2, N9, N12, N13, N14, N21, N22, A, R, S, X
Defining mutations	8701, 9540, 10398, 10873, 15301

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.

Origins

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

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.

The authors of the study also state:

Another related disjunctive yet not settled is whether M and N (and its main branch R) arose inside or outside Africa.

Regarding the presence of haplogroups N in Tanzania, Gonder et al write:

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

Torroni et al 2006 state that Haplogroups M, N and R occurred somewhere between East Africa and the Persian Gulf.

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.

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.

Dispersal

A number of scholars had proposed that haplogroup M dispersed from Africa through the southern route across the Horn of Africa 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 levant. 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.

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.

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 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
  • N12
    • N12a
  • N13
  • N14
  • N21
  • N22
  • A
  • S
  • X
  • R

See also

• Genealogical DNA test
• Genetic Genealogy
• Human mitochondrial genetics
• Population Genetics
• Human mitochondrial DNA haplogroups

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

External links

• General
  • Ian Logan's Mitochondrial DNA Site
• Haplogroup N
  • Katherine Borges' Haplogroup N mtDNA Study at Family Tree DNA
  • Spread of Haplogroup N, from National Geographic
  • Kivisild et al. 2007 Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis