Human Y-chromosome DNA haplogroup

Human Y-DNA phylogeny and haplogroup distribution.^[1] *(a) Phylogenetic tree. 'kya' means 'thousand years ago'. *(b) Geographical distributions of each haplogroups are shown in color. *(c) Geographical color legend.

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).^[2]

The human Y-chromosome accumulates roughly two mutations per generation.^[3] Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup.

The Y-chromosomal most recent common ancestor (Y-MRCA, informally known as Y-chromosomal Adam) is the most recent common ancestor (MRCA) from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived roughly 236,000 years ago in Africa. By examining other bottlenecks most Eurasian men (men from populations outside of Africa) are descended from a man who lived in Africa 69,000 years ago(E-M168).^{[citation needed]} Other major bottlenecks occurred about 50,000 and 5,000 years ago and subsequently the ancestry of most Eurasian men can be traced back to four ancestors who lived 50,000 years ago, who were descendendant of African (E-M168).^{[4][5][6][clarification needed]}

Naming convention[]

Schematic illustration of Y-DNA haplogroups naming convention. Haplogroups are defined through mutations (SNPs).

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.^[7][8] 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.^[9]

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.^[2] 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):^[10]

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

Phylogenetic structure[]

Phylogenetic tree of Y-DNA haplogroups ^[11]

Major Y-DNA haplogroups[]

Haplogroups A and B[]

Haplogroup A is the NRY (non-recombining Y) macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa, being concentrated among Khoisan populations in the southwest and Nilotic populations toward the northeast in the Nile Valley. BT is a subclade of haplogroup A, more precisely of the A1b clade (A2-T in Cruciani et al. 2011), as follows:

• Haplogroup A
  • Haplogroup A00
  • Haplogroup A0 (formerly also A1b)
  • Haplogroup A1 (also A1a-T)
    • Haplogroup A1a (M31)
    • Haplogroup A1b (also A2-T; P108, V221)
      • Haplogroup A1b1a1 (also A2; M14)
      • Haplogroup A1b1b (also A3; M32)
      • Haplogroup BT (M91, M42, M94, M139, M299)
        • Haplogroup B (M60)
        • Haplogroup CT

Haplogroup CT (P143)[]

The defining mutations separating CT (all haplogroups except for A and B) are M168 and M294. The site of origin is likely in Africa. Its age has been estimated at approximately 88,000 years old,^[12][13] and more recently at around 100,000^[14] or 101,000 years old.^[15]

Haplogroup C (M130)[]

• Haplogroup C (M130, M216) Found in Asia, Oceania, and North America
  • Haplogroup C1 (F3393/Z1426)
    • Haplogroup C1a (CTS11043)
      • Haplogroup C1a1 (M8, M105, M131) Found with low frequency in Japan
      • Haplogroup C1a2 (V20) Found with low frequency in Europe, Armenians, Algeria, and Nepal
    • Haplogroup C1b (F1370, Z16480)
      • Haplogroup C1b1 (AM00694/K281)
        • Haplogroup C1b1a (B66/Z16458)
          • (M356) Found with low frequency in South Asia, Southwest Asia, and northern China
          • Haplogroup C1b1a2 (B65)
            • Haplogroup C1b1a2a (B67) Found among Lebbo' people in Borneo, Indonesia
            • Haplogroup C1b1a2b (F725) Found among Han Chinese (Guangdong, Hunan, and Shaanxi), Dai people (Yunnan), Murut people (Brunei), Malay people (Singapore), and Aeta people (Philippines)
          • Haplogroup C1b1a3 (Z16582) Found with low frequency in Saudi Arabia and Iraq
        • Haplogroup C1b1b (B68) Found among Dusun people (Brunei)
      • Haplogroup C1b2 (C-Z16582)
      • Haplogroup C1b3 (B477/Z31885)
        • Haplogroup C1b3a (M38) Found in Indonesia, New Guinea, Melanesia, Micronesia, and Polynesia
        • Haplogroup C1b3b (M347, P309) Found among the indigenous peoples in Australia
  • Haplogroup C2 (M217, P44) Found throughout Eurasia and North America, but especially among Mongols, Kazakhs, Tungusic peoples, Paleosiberians, and Na-Dené-speaking peoples

Haplogroup D (CTS3946)[]

• Haplogroup D (CTS3946)
  • Haplogroup D1 (M174) Found in Japan, China (especially Tibet), the Andaman Islands
    Main article: Haplogroup D-M174
    • Haplogroup D1a (CTS11577)
      • Haplogroup D1a1 (Z27276, Z27283, Z29263)
        • Haplogroup D1a1a (M15) Found mainly in Tibetans, Qiangic peoples, Yi, and Hmong-Mien peoples
        • Haplogroup D1a1b (P99) Found mainly in Tibetans, Qiangic peoples, Naxi, and Turkic peoples
      • Haplogroup D1a2 (M55, M57, M64.1, M179, P12, P37.1, P41.1 (M359.1), 12f2.2) Found mainly in Japan
      • (Y34637) Found in Andamanese peoples (Onge, Jarawa)
    • Haplogroup D1b (L1366, L1378, M226.2) Found in Mactan Island, Philippines
  • Haplogroup D2 (A5580.2) Found in Nigeria, Saudi Arabia and Syria

Haplogroup E (M96)[]

• Haplogroup E (M40, M96) Found in Africa and parts of the Middle East and Europe
  • Haplogroup E1 (P147)
    • Haplogroup E1a (M33, M132) formerly E1
    • Haplogroup E1b (P177)
      • Haplogroup E1b1 (P2, DYS391p); formerly E3
        • Haplogroup E1b1a (V38)
          • Haplogroup E1b1a1 (M2) Found in Africa, especially among Niger–Congo-speaking populations.; formerly E3a
          • Haplogroup E1b1a2 (M329) Found in Africa, especially in Ethiopia among Omotic-speaking populations.; formerly E3*
        • Haplogroup E1b1b (M215)
          • Haplogroup E1b1b1 (M35) Found in Horn of Africa, North Africa, the Middle East, and Europe (especially in areas near the Mediterranean and the Balkans); formerly E3b
  • Haplogroup E2 (M75)

Haplogroup F (M89)[]

The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa.

F xG,H,I,J,K is rare in modern populations and peaks in South Asia, especially Sri Lanka.^[11] It also appears to have long been present in South East Asia; it has been reported at rates of 4–5% in Sulawesi and Lembata. One study, which did not comprehensively screen for other subclades of F-M89 (including some subclades of GHIJK), found that Indonesian men with the SNP P14/PF2704 (which is equivalent to M89), comprise 1.8% of men in West Timor, 1.5% of Flores 5.4% of Lembata 2.3% of Sulawesi and 0.2% in Sumatra.^[16][17] F* (F xF1,F2,F3) has been reported among 10% of males in Sri Lanka and South India, 5% in Pakistan, as well as lower levels among the Tamang people (Nepal), and in Iran. F1 (P91), F2 (M427) and F3 (M481; previously F5) are all highly rare and virtually exclusive to regions/ethnic minorities in Sri Lanka, India, Nepal, South China, Thailand, Burma, and Vietnam. In such cases, however, the possibility of misidentification is considered to be relatively high and some may belong to misidentified subclades of Haplogroup GHIJK.^[18]

Haplogroup G (M201)[]

Haplogroup G (M201) originated some 48,000 years ago and its most recent common ancestor likely lived 26,000 years ago in the Middle East. It spread to Europe with the Neolithic Revolution.

It is found in many ethnic groups in Eurasia; most common in the Caucasus, Iran, Anatolia and the Levant. 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.^[19][20]

G-M201 is also found in small numbers in northwestern China and India, Bangladesh, Pakistan, Sri Lanka, Malaysia, and North Africa.

• Haplogroup G1
• Haplogroup G2
  • • Haplogroup G2a1
    • • Haplogroup G2a3a
      • • Haplogroup G2a3b1
    • Haplogroup G2b
    • Haplogroup G2c (formerly Haplogroup G5)

Haplogroup H (M69)[]

Haplogroup H (M69) probably emerged in or South Asia, about 48,000 years BP, and remains largely prevalent there in the forms of H1 (M69) and H3 (Z5857). Its sub-clades are also found in lower frequencies in Iran, Central Asia, across the middle-east, and the Arabian peninsula.

However, H2 (P96) is present in Europe since the Neolithic and H1a1 (M82) spread westward in the Medieval era with the migration of the Roma people.

This section needs expansion. You can help by . (September 2016)

Haplogroup I (M170)[]

Haplogroup I (M170, M258) is found mainly in Europe and the Caucasus.

• Haplogroup I1 Nordid/Nordic Europids (M253) Found mainly in northern Europe
• Haplogroup I2 Dinarid/Dinaric Europids (P215) Found mainly in Balkans, southeast Europe and Sardinia save for I2B1 (m223) which is found at a moderate frequency in Western, Central, and Northern Europe.

Haplogroup J (M304)[]

Haplogroup J (M304, S6, S34, S35) is found mainly in the Middle East and South-East Europe.

• Haplogroup J* (J-M304*) is rare outside the island of Socotra.
  • Haplogroup J1 Semitid/Bedouinid Arabids (M267) is associated with Northeast Caucasian peoples in Dagestan and Semitic languages speaking people in the Middle East, Ethiopia, and North Africa and also found in Mediterranean Europe in smaller frequencies much like haplogroup T.
  • Haplogroup J2 Syrid/Nahrainid Arabids (M172) is found mainly in the Semitic-speaking peoples, Anatolia, Greece, the Balkans, Italy, Iran, the Caucasus, South Asia, and Central Asia.

Haplogroup K (M9)[]

Haplogroup K (M9) is spread all over Eurasia, Oceania and among Native Americans.

K(xLT,K2a,K2b) – that is, K*, K2c, K2d or K2e – is found mainly in Melanesia, Aboriginal Australians, India, Polynesia and Island South East Asia.

Haplogroups L and T (K1)[]

Haplogroup L (M20) is found in South Asia, Central Asia, South-West Asia, and the Mediterranean.

Haplogroup T (M184, M70, M193, M272) is found at high levels in the Horn of Africa (mainly Cushitic-speaking peoples), parts of South Asia, the Middle East, and the Mediterranean. T-M184 is also found in significant minorities of Sciaccensi, Stilfser, Egyptians, Omanis, Sephardi Jews,^[21] Ibizans (Eivissencs), and Toubou. It is also found at low frequencies in other parts of the Mediterranean and South Asia.

Haplogroup K2 (K-M526)[]

The only living males reported to carry the basal paragroup K2* are indigenous Australians. Major studies published in 2014 and 2015 suggest that up to 27% of Aboriginal Australian males carry K2*, while others carry a subclade of K2.

This section needs expansion. You can help by . (September 2016)

Haplogroups K2a, K2a1, NO & NO1[]

This section needs expansion. You can help by . (September 2016)

Haplogroup N[]

Haplogroup N (M231) is found through northern Eurasia, especially among speakers of the Uralic languages.

Haplogroup N possibly originated in eastern Asia and spread both northward and westward into Siberia, being the most common group found in some Uralic-speaking peoples.

Haplogroup O[]

Haplogroup O (M175) is found with its highest frequency in East Asia and Southeast Asia, with lower frequencies in the South Pacific, Central Asia, South Asia, and islands in the Indian Ocean (e.g. Madagascar, the Comoros).

• Haplogroup O1 (F265/M1354, CTS2866, F75/M1297, F429/M1415, F465/M1422)
  • Haplogroup O1a (M119, CTS31, F589/Page20, L246, L466) Found in eastern,central and southern Mainland China, Taiwan, and Southeast Asia, especially among Austronesian and Tai–Kadai peoples
  • Haplogroup O1b (P31, M268)
    • Haplogroup O1b1 (M95) Found in Japan, southern China, Taiwan, Southeast Asia, and the Indian subcontinent, especially among Austroasiatic- and Tai–Kadai-speaking peoples, Malays, and Indonesians
    • Haplogroup O1b2 (SRY465, M176) Found in Japan, Korea, Manchuria, and Southeast Asia
• Haplogroup O2 (M122) Found throughout East Asia, Southeast Asia, and Austronesia including Polynesia

Haplogroups K2b1, M & S[]

No examples of the basal paragroup K2b1* have been identified. Males carrying subclades of K2b1 are found primarily among Papuan peoples, Micronesian peoples, indigenous Australians, and Polynesians.

Its primary subclades are two major haplogroups:

• Haplogroup S (B254) also known as K2b1a: found in the highlands of Papua New Guinea and;
• Haplogroup M (P256) also known as K2b1b: found in New Guinea and Melanesia.

This section needs expansion. You can help by . (September 2016)

Haplogroup P (K2b2)[]

Haplogroup P (P295) has two primary branches: P1 (P-M45) and the extremely rare (P-B253).^[22]

P*, P1* and P2 are found together only on the island of Luzon in the Philippines.^[22] In particular, P* and P1* are found at significant rates among members of the Aeta (or Agta) people of Luzon.^[23] While, P1* is now more common among living individuals in Eastern Siberia and Central Asia, it is also found at low levels in mainland South East Asia and South Asia. Considered together, these distributions tend to suggest that P* emerged from K2b in South East Asia.^[23][24]

P1 is also the parent node of two primary clades:

• Haplogroup Q (Q-M242) and;
• Haplogroup R (R-M207). These share the common marker M45 in addition to at least 18 other SNPs.

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 Q M242[]

Q is defined by the SNP M242. It is believed to have arisen in Central Asia approximately 32,000 years ago.^[25][26] The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree^[27] 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^[28]

The 2008 ISOGG tree

• Q (M242)
  • Q*
  • Q1 (P36.2)
    • Q1*
    • Q1a (MEH2)
      • Q1a*
      • Q1a1 (M120, M265/N14) Found with low frequency among Bhutanese,^[29] Dungans, Han Chinese, Japanese, Koreans, Mongolians,^[30] Naxi, and Tibetans^[31][32]
      • 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^[33]
          • 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 (M207)[]

The hypothetical divergence of Haplogroup R and its descendants.

Haplogroup R is defined by the SNP M207. The bulk of Haplogroup R is represented in descendant subclade R1 (M173), which likely originated on the Eurasian Steppes. R1 has two descendant subclades: R1a and R1b.

R1a is associated with the proto-Indo-Iranian and Balto-Slavic peoples, and is now found primarily in Central Asia, South Asia, and Eastern Europe.

Haplogroup R1b 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 Western European populations, and has been associated with the Italo-Celtic and Germanic peoples.

• Haplogroup R1 (M173) Found throughout western Eurasia
  • Haplogroup R1a (M420) Found in Central Asia, South Asia, and Central, Northern and Eastern Europe, Balkans
  • 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

Chronological development of haplogroups[]

See also[]

• Y-chromosome haplogroups in populations of the world
• Y-DNA haplogroups in populations of Europe
• Genetic history of Europe
• List of Y-DNA single-nucleotide polymorphisms
• List of Y-STR markers
• Human mitochondrial DNA haplogroups
• * (haplogroup)
• Molecular phylogeny
• Genetic genealogy
• Genealogical DNA test
• Conversion table for Y chromosome haplogroups

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2] This article needs to be updated. Please help update this article to reflect recent events or newly available information. (February 2021)
	"Y-chromosomal Adam"
		A00	A0-T [χ 3]
			A0	A1 [χ 4]
				A1a
							BT
							B	CT
								DE						CF
							D	E		C		F
																			GHIJK
																				G	HIJK
																					IJK	H
														IJ	K
									I	J		LT [χ 5]		K2 [χ 6]
																L	T		K2a [χ 7]	K2b [χ 8]			[χ 9]
																			K-M2313 [χ 10]		K2b1 [χ 11]	P [χ 12]
																			NO		S [χ 13]	M [χ 14]		P1
																		N	O			Q	R
Y-DNA by population Y-DNA haplogroups of historic people showFootnotes  ^ 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. ^ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.) ^ Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4). ^ Haplogroup A1 is also known as A1'2'3'4. ^ Haplogroup LT (L298/P326) is also known as Haplogroup K1. ^ 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. ^ Haplogroup K2a (M2308) and its primary subclade K-M2313 were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. doi:10.1038/ng.3559. PMC 4884158. PMID 27111036. In the past, other haplogroups, including NO (M214) and K2e had also been identified with the name "K2a". ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS. ^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a). ^ 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) ^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure. ^ Haplogroup P (P295) is also klnown as K2b2. ^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.) ^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

References[]

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

Further reading[]

• Mendez, Fernando; Krahn, Thomas; Schrack, Bonnie; Krahn, Astrid-Maria; Veeramah, Krishna; Woerner, August; Fomine, Forka Leypey Mathew; Bradman, Neil; Thomas, Mark; Karafet, Tatiana M.; Hammer, Michael F. (7 March 2013). "An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree" (PDF). American Journal of Human Genetics. 92 (3): 454–59. doi:10.1016/j.ajhg.2013.02.002. PMC 3591855. PMID 23453668.
• "Y-Haplogroup A Phylogenetic Tree". March 2013. Retrieved 30 March 2013. (chart highlighting new branches added to the A phylotree in March 2013)

External links[]

Wikimedia Commons has media related to Human Y-DNA haplogroups.

• ISOGG Y-DNA Haplogroup Tree
• Family Tree DNA Public Haplotree
• Chart of the speed of different Y chromosomal STR mutation rates
• Map of Y Haplogroups
• Atlas of the Human Journey, from the Genographic Project, National Geographic
• DNA Heritage's Y-haplogroup map
• Video tutorial on Discovering Paternal Ancestry with Y-Chromosomes
• Haplogroup Predictor
• Semino O, Passarino G, Oefner PJ, et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science. 290 (5494): 1155–59. Bibcode:2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453. As PDF 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