Human Y-chromosome DNA haplogroup

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In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome (called Y-DNA).

The Y chromosome consortium has established a system of defining Y-DNA haplogroups by letters A through to T, with further subdivisions using numbers and lower case letters.[1]

Y-chromosomal Adam is the name given by researchers to a theoretical male who is the most recent common patrilineal (male-lineage) ancestor of all living humans. Estimations of the date of this common ancestor have varied significantly in different studies.

Major Y-DNA haplogroupsEdit

Major Y-chromosome haplogroups include:

Tree viewEdit

Y─ DNA Adam

Haplogroup A0

Haplogroup A1


Haplogroup B


Haplogroup D

Haplogroup E


Haplogroup C

Haplogroup F

Haplogroups F1-F4

Haplogroup G

Haplogroup H

Haplogroup IJ

Haplogroup I

Haplogroup J

Haplogroup K



Haplogroup L

Haplogroup T


Haplogroups K1-K4

Haplogroup M

Haplogroup NO

Haplogroup N

Haplogroup O

Haplogroup P

Haplogroup Q

Haplogroup R

Haplogroup S

Groups A and B Edit

Haplogroup A is the African macrohaplogroup from which all modern haplogroups descend. BT is a subclade of Haplogroup A. It has two major lineages, Haplogroups B and CT.

Groups with mutation M168 (CT)Edit

The defining mutations separating CT (all haplogroups excepting A and B) are M168 and M294. These mutations predate the "Out of Africa" migration. The defining mutations of DE probably occurred in Northeastern Africa some 65,000 years ago.[1] The P143 mutation that defines Haplogroup CF may have occurred at that time, bringing modern humans to the southern coast of Asia.

Groups descended from Haplogroup F (G, H & IJK)Edit

Haplogroup F (Y-DNA)

The diversion of Haplogroup F and its descendants.

The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa. The mutation of IJ corresponds to a wave of migration out of the Middle East or South Asia some 45 ka that subsequently spread into Europe (Cro-Magnon). Haplogroup G originated in the Middle East or perhaps further east as far as Pakistan some 30 ka, and spread to Europe with the Neolithic Revolution. Haplogroup H probably occurred in India some 30-40 ka, and remains prevalent there, spreading westwards in historical times with the Romani migration. Haplogroup K spread widely to Eurasia, Australia and the South Pacific.

Groups descended from Haplogroup K (M9)Edit

Haplogroup L is mainly found in South Asia. Haplogroup M is most prevalent in Melanesia. The NO haplogroup appeared ca. 35-40 ka in Asia. Haplogroup N probably originated in Southeast Asia and spread north into Siberia and west, being the most common group found in Uralic peoples. Haplogroup O is found at its highest frequency in East Asia and Southeast Asia, with lower frequencies in the South Pacific, Central Asia, and South Asia. Haplogroup P gave rise to groups Q and R, and is rarely found in its undifferentiated stage. It probably originated in Central Asia or the Altai region. Haplogroup Q also originated in Central Asia, migrating east to North America.

Groups descended from Haplogroup NO (M214)Edit

The NO haplogroup appeared ca. 35-40 ka in East Asia. Haplogroup N possibly originated in eastern Asia and spread both west into Siberia and north, being the most common group found in some Uralic speaking peoples. Haplogroup O is found at its highest frequency in East Asia and Southeast Asia, with lower frequencies in the South Pacific, Central Asia, and South Asia.

Groups descended from Haplogroup P (M45)Edit

Haplogroup P (M45) has two branches. They are Q-M242 and R-M207, which share the common marker M45 in addition to at least 18 other SNPs.

Haplogroup Q

Q is defined by the SNP M242. It is believed to have arisen in Central Asia approximately 35-40 000 years ago. The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree[2] are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR. This low frequency value has been found as a novel Q lineage (Q5) in Indian populations[3]

The 2008 ISOGG tree

Haplogroup R

Haplogroup R (Y-DNA)

The diversion of Haplogroup R and its descendants.

Haplogroup R is defined by the SNP M207. The bulk of Haplogroup R is represented in lineages R1a and R1b. R1a likely originated in the Eurasian Steppes, and is associated with the Kurgan culture and Proto-Indo-European expansion. It is primarily found in Central Asia, South Asia, and Eastern Europe. R1b probably originated in Central Asia. It is the dominant haplogroup of Western Europe and also found sparsely distributed among various peoples of Asia and Africa. Its subclade R1b1a2 (M269) is the haplogroup that is most commonly found among modern European populations, especially those of Western Europe.

Chronological development of Haplogroups in EuropeEdit

Haplogroup Possible time of origin Possible place of origin Highest frequencies
K 40,000 years ago South Asia or West Asia
T 30,000 years ago West Asia
J 30,000 years ago Middle East
R 28,000 years ago Central Asia
E1b1b-M35 26,000 years ago East Africa
I 25,000 years ago Balkans
R1a1 21,000 years ago Southern Russia
R1b 20,000 years ago Around the Caspian Sea or Central Asia
E1b1b-M78 18,000 years ago Egypt/Libya
G 17,000 years ago Between India and the Caucasus
I2 17,000 years ago Balkans
J2 15,000 years ago Northern Mesopotamia
I2b 13,000 years ago Central Europe
N1c1 12,000 years ago Siberia
I2a 11,000 years ago Balkans
R1b1b2 10,000 years ago North or south of the Caucasus
J1 10,000 years ago Arabian peninsula
E1b1b-V13 10,000 years ago BalkansAlbanians
I2b1 9,000 years ago Central Europe
I2a1 8,000 years ago Sardinia
I2a2 7,500 years ago Dinaric Alps
E1b1b-M81 5,500 years ago MaghrebBerbers
I1 5,000 years ago Scandinavia
R1b-L21 4,000 years ago Central or Eastern Europe
R1b-S28 3,500 years ago around the Alps
R1b-S21 3,000 years ago Frisia or Central Europe
I2b1a < 3,000 years ago Britain

See alsoEdit

Human Y-chromosome DNA (Y-DNA) haplogroups

Y-most recent common ancestor

References Edit

  1. ^ Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. DOI:10.1101/gr.7172008. PMID 18385274. 
  2. ^ "Y-DNA Haplogroup Tree 2010". International Society of Genetic Genealogy. Retrieved July 2010. 
  3. ^ (2007) "A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India". BMC Evol Biol 7: 232. DOI:10.1186/1471-2148-7-232. PMID 18021436. 
  4. ^ Supplementary Table 2: NRY haplogroup distribution in Han populations, from the online supplementary material for the article by Bo Wen et al., "Genetic evidence supports demic diffusion of Han culture," Nature 431, 302-305 (16 September 2004)
  5. ^ Table 1: Y-chromosome haplotype frequencies in 49 Eurasian populations, listed according to geographic region, from the article by R. Spencer Wells et al., "The Eurasian Heartland: A continental perspective on Y-chromosome diversity," Proceedings of the National Academy of Sciences of the United States of America (August 28, 2001)
  6. ^ "Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas," Maria-Catira Bortolini et al., American Journal of Human Genetics 73:524-539, 2003

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