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Human Y-chromosome DNA haplogroups

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Title: Human Y-chromosome DNA haplogroups  
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Subject: Haplotype, Finns, Genetic genealogy, Genographic Project, Haplogroup, Indigenous peoples of the Americas, Haplogroup I-M170, List of DNA-tested mummies, Haplogroup E-V38, Haplogroup H-M69
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Human Y-chromosome DNA haplogroups

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). It represents human genetic diversity based on single-nucleotide polymorphisms (SNPs) on the Y chromosome.[1]

Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree. Y-chromosomal Adam is the name given by researchers to the patrilineal most recent common ancestor of all living humans at the root of this tree. Estimates of the date when Y-chromosomal Adam lived have varied significantly in different studies.

Naming convention

Y-DNA haplogroups are defined by the presence of a series of Y-DNA SNP markers. Subclades are defined by a terminal SNP, the SNP furthest down in the Y-chromosome phylogenetic tree.[2][3] The Y Chromosome Consortium (YCC) developed a system of naming major Y-DNA haplogroups with the capital letters A through T, with further subclades named using numbers and lower case letters (YCC longhand nomenclature). YCC shorthand nomenclature names Y-DNA haplogroups and their subclades with the first letter of the major Y-DNA haplogroup followed by a dash and the name of the defining terminal SNP.[4]

Y-DNA haplogroup nomenclature is changing over time to accommodate the increasing number of SNPs being discovered and tested, and the resulting expansion of the Y-chromosome phylogenetic tree. This change in nomenclature has resulted in inconsistent nomenclature being used in different sources.[1] This inconsistency, and increasingly cumbersome longhand nomenclature, has prompted a move towards using the simpler shorthand nomenclature. In September 2012, Family Tree DNA provided the following explanation of its changing Y-DNA haplogroup nomenclature to individual customers on their Y-DNA results pages (note that the haplogroup mentioned below relates to a specific individual):[5]

Long time customers of Family Tree DNA have seen the YCC-tree of Homo Sapiens evolve over the past several years as new SNPs have been discovered. Sometimes these new SNPs cause a substantial change in the "longhand" explanation of your terminal Haplogroup. Because of this confusion, we introduced a shorthand version a few years ago that lists the branch of the tree and your terminal SNP, i.e. J-L147, in lieu of J1c3d. Therefore, in the very near term, Family Tree DNA will discontinue showing the current "longhand" on the tree and we will focus all of our discussions around your terminal defining SNP.
This changes no science – it just provides an easier and less confusing way for us all to communicate.

Bennett Greenspan, Family Tree DNA
Dr. Michael F. Hammer, University of Arizona

Major Y-DNA haplogroups

Major Y-chromosome haplogroups include:

Tree view

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

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)

Main article: Haplogroup CT (Y-DNA)

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.[6] 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)

Main article: Haplogroup F (Y-DNA)

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)

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.

  • Haplogroup LT (L298/P326)
  • Haplogroup MNOPS (rs2033003/M526)
    • Haplogroup M (P256) Found in New Guinea and Melanesia
    • Haplogroup NO (M214) 35-40 kya
      • Haplogroup NO* (minimal distribution)
      • Haplogroup N (M231) Found in northernmost Eurasia, especially among the Uralic peoples
      • Haplogroup O (M175) Found in East Asia, Southeast Asia, the South Pacific
    • Haplogroup P (M45)
    • Haplogroup S (M230) (formerly known as Haplogroup K5) Found in the highlands of New Guinea

Groups descended from Haplogroup NO (M214)

The NO haplogroup appeared ca. 35-40 ka in eastern 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.

  • Haplogroup NO (M214) 35-40 ka (minimal distribution)
    • Haplogroup N (M231) Found in northernmost Eurasia, especially among the Uralic peoples
      • Haplogroup N1 (LLY22g)
    • Haplogroup O (M175) Found in East Asia, Southeast Asia, the South Pacific

Groups descended from Haplogroup P (M45)

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 17,000 to 22,000 years ago.[9][10] The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree[11] 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[12]

The 2008 ISOGG tree

Haplogroup R

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 Scythian 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.

  • Haplogroup R1 (M173) Found throughout western Eurasia
  • Haplogroup R2 (M124) Found in South Asia, Caucasus, Central Asia, and Eastern Europe

Chronological development of haplogroups in Europe

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

See also

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A0 A1
A1a A1b
A1b1 BT
  • Y-DNA by populations
  • Famous Y-DNA haplotypes


  • 2005 Y-chromosome Phylogenetic Tree, from
  • A Nomenclature system for the Tree of Human Y-Chromosomal Haplogroups,

External links

  • ISOGG Y-DNA Haplogroup Tree
  • FTDNA (2008) Y-Chromosome Phylogenetic Tree
  • Chart of the speed of different Y chromosomal STR mutation rates
  • Map of Y Haplogroups
  • National Geographic
  • DNA Heritage's Y-haplogroup map
  • Video tutorial on Discovering Paternal Ancestry with Y-Chromosomes
  • Haplogroup Predictor
  • DNA Consulting's Conversion Chart for Male Haplogroups (PDF)
  • Semino et al. (2000) The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective Paper that defined "Eu" haplogroups
  • Y-DNA Haplogroup and Sub-clade Projects
  • Kerchner's YDNA Haplogroup Descriptions, Projects & Links
  • Y-DNA Testing Company STR Marker Comparison Chart
  • Y-DNA Ethnographic and Genographic Atlas and Open-Source Data Compilation
  • Y Chromosome Consortium

Further reading

  • (chart highlighting new branches added to the A phylotree in March 2013)

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