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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 haplogroups

Major Y-chromosome haplogroups include:

Tree view

Groups A and B

Haplogroups A and B are only found in sub-Saharan Africa (and in populations extracted from there in modern times, primarily via the Atlantic slave trade and Arab slave trade). The first to branch off was A, with defining mutation M91. All other haplogroups are summarized as BT (also referred to as YxA).

Haplogroup A (M91) Found in Africa, especially the Khoisan, Ethiopians (especially Beta Israel) and Nilotes
BT (M42, M94, M139, M299) ca. 55 ka BP
- Haplogroup B (M60) Found in Africa, especially the Pygmies and Hadzabe
- CT (see below)

Groups with mutation M168 (CT)

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 50,000 years ago.^{[citation needed]} The P143 mutation that defines Haplogroup CF may have occurred somewhat earlier, perhaps even as early as 55,000 years ago, after the first Out of Africa migration brought Homo sapiens to the southern coast of Southwest Asia.

Haplogroup CF (P143) Found outside of Africa, throughout Eurasia, Oceania, and the Americas
- Haplogroup C (M130, M216) Found in Asia, Oceania, and North America
  - Haplogroup C1 (M8, M105, M131) Found in Japan
  - Haplogroup C2 (M38) Found in Indonesia, New Guinea, Melanesia, Micronesia, and Polynesia
  - Haplogroup C3 (M217, P44) Found throughout Eurasia and North America, but especially among Mongols, Kazakhs, Tungusic peoples, Paleosiberians, and Na-Dené-speaking peoples
  - Haplogroup C4 (M347) Found among the indigenous peoples in Australia
  - Haplogroup C5 (M356) Found in the Indian subcontinent, the Arabian Peninsula, and northern China
- Haplogroup F (M89, M213) Found in Southern India, Sri Lanka, Yunnan, Korea
  - GT (see below)
Haplogroup DE (M1, M145, M203) ca. 65 ka
- Haplogroup D (M174) Found in Japan, China (especially Tibet), the Andaman Islands
  - Haplogroup D1 (M15)
  - Haplogroup D2 (M55, M57, M64.1, M179, P12, P37.1, P41.1 (M359.1), 12f2.2)
  - Haplogroup D3 (P47)
- Haplogroup E (M40, M96) Found primarily in Africa
  - Haplogroup E1 (P147)
    - Haplogroup E1a (M33, M132) formerly E1
    - Haplogroup E1b (P177)
      - Haplogroup E1b1 (P2, DYS391p); formerly E3
        Haplogroup E1b1a (M2) Found in Africa; formerly E3a
        
        Haplogroup E1b1b (M215) Found in East Africa, North Africa, the Middle East, and Europe (especially in areas near the Mediterranean); formerly E3b
  - Haplogroup E2 (M75)

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

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 Caucasus, 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 probably originated in southwestern Asia and spread widely to Africa, Eurasia, Australia and the South Pacific.

Haplogroup G (M201) ca. 21 ka Found in many ethnic groups in Eurasia; most common in the Caucasus, Iran, Anatolia and other eastern Mediterranean coastal areas. Found in almost all European countries, but most common in Gagauzia, southeastern Romania, Greece, Italy, Spain, Portugal, Tyrol, and Bohemia with highest concentrations on some Mediterranean islands; uncommon in Northern Europe^[1]^[2] Found in small numbers in northwestern China and India, Pakistan, Sri Lanka, Malaysia, and North Africa
- Haplogroup G1
- Haplogroup G2
  - Haplogroup G2a
  - Haplogroup G2b
  - Haplogroup G2c (formerly Haplogroup G5)
    - Haplogroup G2c1
Haplogroup H (M69) Found mainly in South Asia
- Haplogroup H1
- Haplogroup H2
Haplogroup IJK
- Haplogroup IJ (P123, P124, P125, P126, P127, P129, P130) ca. 45 ka
  - Haplogroup I (M170, M258) Found in Europe and parts of the Near East
    - Haplogroup I1 (M253) Found mainly in northern Europe
    - Haplogroup I2 (P215) Found mainly in southeast Europe and Sardinia save for I2B1 (m223) which is primarily found in Western, Central, and Northern Europe.
  - Haplogroup J (M304, S6, S34, S35)
    - Haplogroup J* (Rare outside of Socotra)
    - Haplogroup J1 Associated with Northeast Caucasian peoples in Dagestan and Semitic peoples in Mesopotamia, the Levant, the Arabian Peninsula, Ethiopia, and North Africa
    - Haplogroup J2 (M172) Found mainly in Mesopotamia, Anatolia, Levant, Greece, the Balkans, Italy and the Caucasus
- Haplogroup K (M9) Spread all over Eurasia, Oceania and Americas
  - LT (see below)

Groups descended from Haplogroup K (LT)

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 Mongolia and spread both east 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 K* Found in Melanesia and Australia
Haplogroup K1 (formerly Haplogroup K3) Found in Indian subcontinent
Haplogroup K2 (formerly Haplogroup K4)
Haplogroup K3 (formerly Haplogroup K6) Found in Melanesia and Polynesia
Haplogroup K4 Found in Bali

Haplogroup L (M20) Found in South Asia, Central Asia, Southwest Asia, the Mediterranean
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 P* (minimal distribution)
  - Haplogroup Q (MEH2, M242, P36) Found in Siberia and the Americas
  - Haplogroup R (M207, M306) Found in Europe, West Asia, Central Asia, and South Asia
- Haplogroup S (M230) (formerly known as Haplogroup K5) Found in the highlands of New Guinea

Haplogroup T (formerly known as Haplogroup K2) (M184, M70, M193, M272) Found in Africa (mainly Afro-Asiatic-speaking peoples), the Middle East, the Mediterranean, South Asia. Found in a significant minority of Sciaccensi, Somalis, Eivissencs, Stilfser, Ethiopians, Fulbe, Egyptians, and Omanis; also found at low frequency throughout the Mediterranean and parts of India

Groups descended from Haplogroup NO (M214)

The NO haplogroup appeared ca. 35-40 ka in Central Asia. Its predecessor, haplogroup MNOPS, is ancestral to a range of haplogroups distributed widely across mainly Eurasia, Oceania, and the Americas, namely the M, N, O, Q, R, and S haplogroups. 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
  - Haplogroup O1 (MSY2.2) Found in eastern and southern China, Taiwan, and Southeast Asia, especially among Austronesian and Kradai peoples
  - Haplogroup O2 (P31, M268)
    - Haplogroup O2a (M95) Found in Japan, southern China, Southeast Asia, and the Indian subcontinent, especially among Austro-Asiatic peoples, Kradai peoples, Malays, and Indonesians
    - Haplogroup O2b (SRY465, M176) Found in Japan, Korea, Manchuria, and Southeast Asia
  - Haplogroup O3 (M122) Found throughout East Asia, Southeast Asia, and Austronesia including Polynesia

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 35-40 000 years ago. The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree^[3] 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^[4]

The 2008 ISOGG tree

Q (M242)
- Q*
- Q1 (P36.2)
  - Q1*
  - Q1a (MEH2)
    - Q1a*
    - Q1a1 (M120, M265/N14) Found with low frequency among Dungans, Han Chinese, Hazaras, Japanese, Koreans, and Tibetans^[5]^[6]
    - Q1a2 (M25, M143) Found at low to moderate frequency among some populations of Southwest Asia, Central Asia, and Siberia
    - Q1a3 (M346)
      - Q1a3* Found at low frequency in Pakistan, India, and Tibet
      - Q1a3a (M3) Typical of indigenous peoples of the Americas
        Q1a3a*
        
        Q1a3a1 (M19) Found among some indigenous peoples of South America, such as the Ticuna and the Wayuu^[7]
        
        Q1a3a2 (M194)
        
        Q1a3a3 (M199, P106, P292)
    - Q1a4 (P48)
    - Q1a5 (P89)
    - Q1a6 (M323) Found in a significant minority of Yemeni Jews
  - Q1b (M378) Found at low frequency among samples of Hazara and Sindhis

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 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 R1b1b2 (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 R1a (M17) Found in Central Asia, South Asia, and Central, Northern and Eastern Europe
- Haplogroup R1b (M343) Found in Western Europe, West Asia, Central Asia, North Africa, and northern Cameroon
Haplogroup R2 (M124) Found in South Asia, Caucasus, Central Asia, and Eastern Europe

References

^ Passarino, Giuseppe; Cavalleri, Gianpiero L; Lin, Alice A; Cavalli-Sforza, LL; B�rresen-Dale, AL; Underhill, PA; et al. (2002). "Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms". European Journal of Human Genetics. 10 (9): 521–529. doi:10.1038/sj.ejhg.5200834. PMID 12173029. {{cite journal}}: Cite has empty unknown parameter: |author-name-separator= (help); Explicit use of et al. in: |first3= (help); Unknown parameter |author-separator= ignored (help); replacement character in |last5= at position 2 (help)
^ Karlsson, Andreas O; Wallerström, Thomas; Götherström, Anders; Holmlund, Gunilla (2006). "Y-chromosome diversity in Sweden – A long-time perspective". European Journal of Human Genetics. 14 (8): 963–970. doi:10.1038/sj.ejhg.5201651. PMID 16724001. {{cite journal}}: Cite has empty unknown parameter: |author-name-separator= (help); Unknown parameter |author-separator= ignored (help)
^ "Y-DNA Haplogroup Tree 2010". International Society of Genetic Genealogy. Retrieved July 2010. {{cite web}}: Check date values in: |accessdate= (help)
^ Sharma, Swarkar; Rai, Ekta; Bhat, Audesh K; Bhanwer, Amarjit S; Bamezaicorresponding, Rameshwar NK (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. PMC 2258157. PMID 18021436.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ 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)
^ 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)
^ "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

^ Y Chromosome Consortium
^ 2005 Y-chromosome Phylogenetic Tree, from FamilyTreeDNA.com
^ A Nomenclature system for the Tree of Human Y-Chromosomal Haplogroups, Genome.org

External links

[vanOven2014-8] Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. S2CID 23291764.

[ISOGG2015-9] International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)

[A0-T-10] Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).

[A1-11] Haplogroup A1 is also known as A1'2'3'4.

[F-Y27277-12] F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89.

[LT-13] Haplogroup LT (L298/P326) is also known as Haplogroup K1.

[K2-14] Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT.

[K2b-15] Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.

[K2b1-16] Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.

[P-17] Haplogroup P (P295) is also klnown as K2b2.

[K-M2313-18] K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)

[S-19] Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

[M-20] Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

[Passarino2002-1] Passarino, Giuseppe; Cavalleri, Gianpiero L; Lin, Alice A; Cavalli-Sforza, LL; B�rresen-Dale, AL; Underhill, PA; et al. (2002). "Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms". European Journal of Human Genetics. 10 (9): 521–529. doi:10.1038/sj.ejhg.5200834. PMID 12173029. {{cite journal}}: Cite has empty unknown parameter: |author-name-separator= (help); Explicit use of et al. in: |first3= (help); Unknown parameter |author-separator= ignored (help); replacement character in |last5= at position 2 (help)

[Karlsson2006-2] Karlsson, Andreas O; Wallerström, Thomas; Götherström, Anders; Holmlund, Gunilla (2006). "Y-chromosome diversity in Sweden – A long-time perspective". European Journal of Human Genetics. 14 (8): 963–970. doi:10.1038/sj.ejhg.5201651. PMID 16724001. {{cite journal}}: Cite has empty unknown parameter: |author-name-separator= (help); Unknown parameter |author-separator= ignored (help)

[3] "Y-DNA Haplogroup Tree 2010". International Society of Genetic Genealogy. Retrieved July 2010. {{cite web}}: Check date values in: |accessdate= (help)

[4] Sharma, Swarkar; Rai, Ekta; Bhat, Audesh K; Bhanwer, Amarjit S; Bamezaicorresponding, Rameshwar NK (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. PMC 2258157. PMID 18021436.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[5] 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)

[6] 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)

[7] "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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 *[http://www.dnaheritage.com/ysnptree.asp DNA Heritage's Y-haplogroup map]
 *[http://www.genebase.com/tutorial/item.php?tuId=10 Video tutorial on Discovering Paternal Ancestry with Y-Chromosomes]
-*[https://home.comcast.net/~whitathey/predictorinstr.htm Haplogroup Predictor]
+*[http://www.hprg.com/hapest5/hapest5a/hapest5.htm Haplogroup Predictor]
 *[http://dnaconsultants.com/images/links/49-conversion.pdf DNA Consulting's Conversion Chart for Male Haplogroups] (PDF)
 *Semino et al. (2000) [http://www2.smumn.edu/facpages/~poshea/uasal/DNAWWW/pdfs/semino.pdf The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective] Paper that defined "Eu" haplogroups