Human mitochondrial DNA haplogroup

Hypothesized world map of human migrations, with the North Pole at center. Africa, harboring the start of the migration, is at the top left and South America at the far right. Migration patterns are based on studies of mitochondrial (matrilinear) DNA. Letters represent haplogroups while colors and numbers represent thousands of years before present.

Suggested migratory route of the "Out of Africa" migration according to Mitochondrial DNA

In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe.

The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, they (meaning the accidental dictionary ordering of the letters) do not reflect the actual genetic relationships.

The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve.

Part of a series on
Genetic genealogy
Concepts
Population genetics Haplogroup / Haplotype / Subclade Most recent common ancestor DNA haplogroups (Human mitochondrial, Human Y-chromosome) Genomics
Related topics
Y-chromosome haplogroups by populations Genealogical DNA test Surname DNA project Personal genomics Genographic Project ISOGG

Evolutionary relationship

Lineage perspective

This phylogenetic tree is based on the Van Oven 2009 tree and subsequent published research.

• L (Mitochondrial Eve)
  • L0
  • L1-6
    • L1
    • L2-6
      • L5
      • L2'3'4'6
        • L2
        • L3'4'6
          • L6
          • L3'4
            • L4
            • L3
              • M
                • M8: CZ (C, Z)
                • M9: E
                • M12'G: G
                • M29'Q: Q
                • D
              • N
                • N1: I
                • N2: W
                • N9: Y
                • A
                • S
                • X
                • R
                  • R0 (FMKA pre-HV)
                    • HV: (H, V)
                  • pre-JT or R2'JT
                    • JT: (J, T)
                  • R9: F
                  • R11'B: B
                  • P
                  • U (formerly UK)
                    • U8: K
                • O

Table perspective

Evolutionary 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

Chronological development of haplogroups

European haplogroups

Bryan Sykes had claimed there were seven major mitochondrial lineages for modern Europeans but others now put the number at 10-12. These additional "daughters" generally include haplogroups I, M and W. A recent paper re-mapped European haplogroups as H, J, K, N1, T, U4, U5, V, X and W. It should however be noted that haplogroups are arbitrary categories defined by mutations, which themselves are numerous and the result of a random process. It could reasonably be said that there are almost any number of haplogroups present in a particular region. Furthermore, attributing a specific geographic origin to any haplogroup, such as those proposed in the table below, is highly speculative and considered by most population geneticists to be 'story telling' and outside the domain of science. The same can also be said of inferring a close association between a specific haplogroup and a particular archaeological culture.

Haplogroup	Possible time of origin	Possible place of origin	Highest frequencies
N	75,000 years ago	Western Asia, India or South Asia
R	70,000 years ago	Western Asia, India or South Asia
U	60,000 years ago	North-East Africa or South-West Asia
pre-JT	55,000 years ago	Middle East
JT	50,000 years ago	Middle East
U5	50,000 years ago	Western Asia
U6	50,000 years ago	North Africa
U8	50,000 years ago	Western Asia
pre-HV	50,000 years ago	Near East
J	45,000 years ago	Near East or Caucasus
HV	40,000 years ago	Near East
H	over 35,000 years ago	Western Asia
X	over 30,000 years ago	north-east Europe
U5a1	30,000 years ago	Europe
I	30,000 years ago	Caucasus or north-east Europe
J1a	27,000 years ago	Near East
W	25,000 years ago	north-east Europe or north-west Asia
U4	25,000 years ago	Central Asia
J1b	23,000 years ago	Near East
T	17,000 years ago	Mesopotamia
K	16,000 years ago	Near East
V	15,000 years ago	Iberia and moved to Scandinavia
H1b	13,000 years ago	Europe
K1	12,000 years ago	Near East
H3	10,000 years ago	Western Europe (Spain)

Asian haplogroups

F, C, W, M, D, N, K, U, T,A, B, C, Z, U many number variants to each section

See also

• Genealogy
  • The Seven Daughters of Eve
  • Genealogical DNA test
  • Genetic genealogy
  • MtDna haplogroups by populations
  • Human Y-chromosome DNA haplogroups
• Genetics
  • Human mitochondrial molecular clock
  • Cambridge Reference Sequence
  • * (haplogroup)
  • Human mitochondrial genetics
  • Hypervariable region
  • Molecular phylogeny
  • Population genetics
• Bioinformatics

External links

• Mitochondrial phylogenetic trees
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's PhyloTree.org
  • PhyloD3 - D3.js-based phylogenetic tree based on PhyloTree
• Mitochondrial haplogroup skeleton
  • Vincent Macaulay's Mitochondrial haplogroup motifs
  • Cambridge DNA's An mtDNA view of the peopling of the world by Homo sapiens
  • John S. Walden's Map of macro-haplogroup N
  • List of mtDNA haplogroup projects
• MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations
• HaploGrep: mtDNA haplogroup determination based on PhyloTree.org
• HaploFind - fast automatic haplogroup assignment pipeline for human mitochondrial DNA

• Journal articles
  • Behar DM, Metspalu E, Kivisild T, et al. (March 2006). "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event" (PDF). American Journal of Human Genetics 78 (3): 487–97. doi:10.1086/500307. PMC 1380291. PMID 16404693. 
  • Sharma S, Saha A, Rai E, Bhat A, Bamezai R (2005). "Human mtDNA hypervariable regions, HVR I and II, hint at deep common maternal founder and subsequent maternal gene flow in Indian population groups". Journal of Human Genetics 50 (10): 497–506. doi:10.1007/s10038-005-0284-2. PMID 16205836. 
  • Tamm E, Kivisild T, Reidla M, et al. (2007). Carter D, ed. "Beringian standstill and spread of Native American founders". PloS One 2 (9): e829. doi:10.1371/journal.pone.0000829. PMC 1952074. PMID 17786201.