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Human Y chromosome DNA haplogroup

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Human Y-chromosome DNA haplogroup

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.

Contents

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. Archaeological and genetic data suggest that the source populations of Paleolithic humans survived the glacial maxima (including the LGM) and human Y-DNA haplogroups emerged in sparsely wooded refugia, and dispersed through areas of high primary productivity while avoiding dense forest cover.

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. 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.

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. 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):

Major Y-DNA haplogroups

Major Y-chromosome haplogroups include:

Phylogenetic tree of Y-DNA haplogroups

Haplogroups A & B

Using fast evolving SNPs, Haplogroup A is the macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa. BT is a Subclade of Haplogroup A; more precisely of A1b (A2-T in Cruciani et al. 2011), as follows:

  • Haplogroup A
  • Haplogroup A00
  • Haplogroup A0 (formerly also A1b)
  • Haplogroup A1 (also A1a-T)
  • A1a (M31)
  • A1b (also A2-T; P108, V221)
  • A1b1a1 (also A2; M14)
  • A1b1b (also A3; M32)
  • BT (M91, M42, M94, M139, M299)
  • Haplogroup B (M60)
  • CT (see below)
  • Haplogroup CT (P143)

    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. The P143 mutation that defines Haplogroup CF may have occurred at that time, bringing modern humans to the southern coast of Asia.

    Subclades:

  • Haplogroup CF (P143) Found outside of Africa, throughout Eurasia, Oceania, and the Americas
  • C-M130
  • F-M89
  • Haplogroup DE (M1, M145, M203) ca. 65 ka
  • D-M174
  • E-M96
  • 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 and Nepal
  • Haplogroup C1b (F1370, Z16480)
  • Haplogroup C1b1 (AM00694/K281)
  • Haplogroup C1b1a (B66/Z16458)
  • Haplogroup C1b1a1 (M356) Found with low frequency in the Indian subcontinent, the Arabian Peninsula, and northern China
  • Haplogroup C1b2 (B477/Z31885)
  • Haplogroup C1b2a (M38) Found in Indonesia, New Guinea, Melanesia, Micronesia, and Polynesia
  • Haplogroup C1b2b (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 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. It also appears to have long been present in South East Asia. 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. 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.

    Haplogroup D (M174)

  • Haplogroup D (M174) Found in Japan, China (especially Tibet), the Andaman Islands
  • D1 (CTS11577)
  • D1a (Z27276, Z27283, Z29263)
  • Haplogroup D1a1 (M15) Found mainly in Tibetans, Qiangic peoples, Yi, and Hmong-Mien peoples
  • Haplogroup D1a2 (P99) Found mainly in Tibetans, Qiangic peoples, Naxi, and Turkic peoples
  • Haplogroup D1b (M55, M57, M64.1, M179, P12, P37.1, P41.1 (M359.1), 12f2.2) Found mainly in Japan
  • D2 (L1366, L1378, M226.2) Found in Mactan Island, Philippines
  • Haplogroup E (M96)

  • 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 (V38) Found in Africa, especially in Niger–Congo speakers; 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)
  • Haplogroup G (M201)

    Haplogroup G (M201) originated in the Middle East or further east – possibly even the Wardak region of Afghanistan some 30,000 years BP. 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.

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

  • Haplogroup G1
  • Haplogroup G2
  • Haplogroup G2a
  • Haplogroup G2a1
  • Haplogroup G2a2
  • Haplogroup G2a3
  • Haplogroup G2a3a
  • Haplogroup G2a3b
  • Haplogroup G2a3b1
  • Haplogroup G2b
  • Haplogroup G2c (formerly Haplogroup G5)
  • Haplogroup G2c1
  • Haplogroup H (M69)

    Haplogroup H (M69) probably emerged in South Asia, about 30,000 to 40,000 years BP, and remains prevalent there, in the forms of H1 (M69) and H3 (Z5857).

    However, H2 (P96) has been present in Europe since the Neolithic and H1a1 (M82) spread westward in the Medieval era with the migration of the Romani .

    Haplogroup I (M170)

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

  • 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)

    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 (M267) is associated with Northeast Caucasian peoples in Dagestan and Semitic peoples in the Middle East, Ethiopia, and North Africa.
  • Haplogroup J2 (M172) is found mainly in Semitic peoples, Anatolia, Greece, the Balkans, Italy, Iran, South/Central Asia and the Caucasus.
  • Haplogroup K (M9)

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

  • Haplogroup K-xLT,K2 is found mainly in Melanesia, Aboriginal Australians, India, Polynesia and Island South East Asia.
  • Haplogroups L & 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 in the Middle East, Africa (mainly Afro-Asiatic-speaking peoples), the Mediterranean, and South Asia. Found in a significant minority of Sciaccensi, Somalis, Stilfser, Ethiopians, Fulbe, Egyptians, Oman, Sephardi Jews, and Eivissencs, is; also found at low frequency throughout the Mediterranean and parts of India

    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.

    Haplogroup N (K2a1)

    Haplogroup N (M231) also known as K2a1 is found through northern Eurasia, especially among the Uralic peoples.

    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 O (K2a2)

    Haplogroup O (M175) is found in East Asia, Southeast Asia, and the South Pacific.

  • Haplogroup O1 (F265/M1354, CTS2866, F75/M1297, F429/M1415, F465/M1422)
  • Haplogroup O1a (M119, CTS31, F589/Page20, L246, L466) Found in eastern and southern 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 subclades include two major haplogroups

  • Haplogroup M (P256) also known as K2b1d: found in New Guinea and Melanesia.
  • Haplogroup S (M230) also known as K2b1a4 (formerly known as K5): found in the highlands of Papua New Guinea.
  • Haplogroup P (K2b2)

    Haplogroup P (P295) has two primary branches: P1 (P-M45) and the extremely rare P2 (P-B253).

    P*, P1* and P2 are found together only on the island of Luzon, in The Philippines. In particular, P* and P1* are found at significant rates among members of the Aeta (or Agta) people of Luzon. 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.

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

    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
  • 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
  • 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)

    Haplogroup R is defined by the SNP M207. The bulk of Haplogroup R is represented in descendant subclade R1, 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 (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

    Human Y-chromosome DNA haplogroup Wikipedia