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Tuesday, May 19, 2009

Human Y-chromosome DNA haplogroup

World distribution of 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).

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.

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 haplogroups

Major Y-chromosome haplogroups include:

Table 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 Atlantic 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.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 eastern Eurasia, Oceania, Japan, 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-DenĂ©-speaking peoples
      • Haplogroup C4 (M347) Found among the indigenous peoples in Australia
      • Haplogroup C5 (M356) Found in the Indian subcontinent and the Arabian Peninsula
    • Haplogroup F (M89, M213) Found in Southern India, Sri Lanka, Yunnan, Korea
      • GT
  • Haplogroup DE (M1, M145, M203) ca. 65 ka
    • Haplogroup D (M174) Found in Tibet, Japan, 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)
      • Haplogroup E1 (P147)
        • Haplogroup E1a (M33, M132) Found in Africa; formerly E1
        • Haplogroup E1b (P177)
          • Haplogroup E1b1 (P2, DYS391p); formerly E3
            • Haplogroup E1b1a (M2) Found in Africa; formerly E3a
            • and Haplogroup E1b1b (M215) Found in East Africa (EthiopiansSomalis), North Africa (Berbers and Arabs), the Middle East, Europe (especially the Mediterranean and the Balkans); formerly E3b
      • Haplogroup E2 (M75) Found in Africa

Groups descended from Haplogroup F (GT)

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 Western 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 Roma migration. Haplogroup K probably originated in southwestern Asia and spread widely to Africa, Eurasia, Australia and the South Pacific.

  • Haplogroup G (M201) ca. 30 ka Found in many ethnic groups in Eurasia; most common in the Caucasus, the Iranian plateau, and Anatolia; in Europe mainly in Sardinia, Crete, northern Italy, northern Spain, the Tyrol, as well as Bohemia, Moravia; Britain and Norway at only 2%

    • Haplogroup G1

    • Haplogroup G2
    • Haplogroup G2a
      • Haplogroup G2a1

      • Haplogroup G2b
      • Haplogroup G2c (formerly Haplogroup G5)

        • Haplogroup G2c1

        • Haplogroup G2c1a
  • Haplogroup H (M69) Found in India, Sri Lanka
    • Haplogroup H1
    • Haplogroup H2

  • 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 in northern Europe, Scandinavia
      • Haplogroup I2 (P215) Found in southeast Europe, Sardinia
    • Haplogroup J (M304, S6, S34, S35)
      • Haplogroup J* (minimal distribution)
      • 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 the Mediterranean basin (esp. Italy, Greece, and the Balkans), Turkey, Georgia, Jews, Levant
  • Haplogroup K (M9) Found in New Guinea, Australia
    • LT (see below)
    • Haplogroup K1 Found in the Solomon Islands and Fiji
    • Haplogroup T Found in Africa (mainly Afro-Asiatic-speaking peoples), the Middle East, the Mediterranean, South Asia; formerly known as Haplogroup K2
    • Haplogroup K3 Found in two individuals in South Asia

    • Haplogroup K4
    • Haplogroup S Found in New Guinea; formerly known as Haplogroup K5
    • Haplogroup K6 Found in Melanesia
    • Haplogroup K7 Found in Melanesia

Groups descended from Haplogroup K (LT)

Haplogroup L is mainly found in South Asia. Haplogroup M is most prevalent in Papua New Guinea. The NO haplogroup appeared ca. 35-40 ka in Central 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 L (M20) Found in South Asia, Central Asia, Southwest Asia, the Mediterranean

    • Haplogroup L1

    • Haplogroup L2

    • Haplogroup L3
  • Haplogroup M (M4) Found in New Guinea and Melanesia
    • Haplogroup M1

    • Haplogroup M2
  • Haplogroup NO (M214) 35-40 ka (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) (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 (formerly Haplogroup K5) Found in the highlands of New Guinea
  • Haplogroup T (formerly Haplogroup K2) (M184, M70, M193, M272) Found in Africa (mainly Afro-Asiatic-speaking peoples), the Middle East, the Mediterranean, South Asia
    • Haplogroup T1 (M320)
    • Haplogroup T2 (P77)

Groups descended from Haplogroup NO (M214)

The NO haplogroup appeared ca. 35-40 ka in Central 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 NO (M214) 35-40 ka (minimal distribution)
    • Haplogroup N (M231) Found in northernmost Eurasia, especially among the Uralic peoples
      • Haplogroup N1 (LLY22g)

        • Haplogroup N1a

        • Haplogroup N1b

        • Haplogroup N1c
    • 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 Tai-Kadai peoples
      • Haplogroup O2 (P31, M268)
        • Haplogroup O2a (M95) Found in Japan, southern China, Southeast Asia, and the Indian subcontinent, especially among Austro-Asiatic peoples, Tai-Kadai 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

Groups descended from Haplogroup P (M45)

Haplogroup P haplogroup P (M45) is comprised of two branches. They are Q and R. They share the common marker M45.


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 are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR.

The 2008 ISOGG tree

  • Q (M242)
    • Q*
    • Q1 (P36.2)
      • Q1*
      • Q1a (MEH2)
        • Q1a*
        • Q1a1 (M120, M265/N14) Found at low frequency among Chinese, Koreans, Dungans, and Hazara
        • 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 and India
          • Q1a3a (M3) Typical of indigenous peoples of the Americas but also found at low frequencies in Europe and across Northern Asia
            • 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

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 the Slavic peoples of Eastern Europe. R1b originated prior to or during the last glaciation, when it was concentrated in refugia in southern Europe; it is also found sparsely distributed among various peoples of Asia and Africa. Some form of R1b, perhaps R1b1* (P25), probably migrated westward to populate Western Europe around 35,000 ybp.[citation needed] Its subclade R1b1c (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

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