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).
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 is the African macrohaplogroup from which all modern haplogroups descend. BT is a subclade of Haplogroup A. It has two major lineages Haplogroup B and CT.
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 65,000 years ago.[1] The P143 mutation that defines Haplogroup CF may have occurred at that time, bringing modern humans to the southern coast of 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) (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
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 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.
- Paragroup F* Found in Southern India, Sri Lanka, Yunnan, Korea
- Haplogroup G (M201) ca. 21 ka 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[2][3] Found in small numbers in northwestern China and India, Pakistan, Sri Lanka, Malaysia, and North Africa
- Haplogroup H (M69) Found mainly in South Asia
- Haplogroup H1
- Haplogroup H2
- Haplogroup IJK
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 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 LT (L298/P326)
- Haplogroup L (M20) Found in South Asia, Central Asia, Southwest Asia, the Mediterranean
- 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
- Haplogroup MNOPS (rs2033003/M526)
Groups descended from Haplogroup NO (M214)
The NO haplogroup appeared ca. 35-40 ka in East 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 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 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[4] 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[5]
The 2008 ISOGG tree
- Q (M242)
- Q*
- Q1 (P36.2)
- Q1*
- Q1a (MEH2)
- 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 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 |
Possible place of origin |
Highest frequencies |
| K |
40,000 years ago |
South Asia or West Asia |
|
| T |
30,000 years ago |
West Asia |
|
| J |
30,000 years ago |
Middle East |
|
| R |
28,000 years ago |
Central Asia |
|
| E1b1b-M35 |
26,000 years ago |
East Africa |
|
| I |
25,000 years ago |
Balkans |
|
| R1a1 |
21,000 years ago |
Southern Russia |
|
| R1b |
20,000 years ago |
Around the Caspian Sea or Central Asia |
|
| E1b1b-M78 |
18,000 years ago |
Egypt/Libya |
|
| G |
17,000 years ago |
Between India and the Caucasus |
|
| I2 |
17,000 years ago |
Balkans |
|
| J2 |
15,000 years ago |
Northern Mesopotamia |
|
| I2b |
13,000 years ago |
Central Europe |
|
| N1c1 |
12,000 years ago |
Siberia |
|
| I2a |
11,000 years ago |
Balkans |
|
| R1b1b2 |
10,000 years ago |
North or south of the Caucasus |
|
| J1 |
10,000 years ago |
Arabian peninsula |
|
| E1b1b-V13 |
10,000 years ago |
Balkans |
Albanians |
| I2b1 |
9,000 years ago |
Germany |
|
| I2a1 |
8,000 years ago |
Sardinia |
|
| I2a2 |
7,500 years ago |
Dinaric Alps |
|
| E1b1b-M81 |
5,500 years ago |
Maghreb |
Berbers |
| I1 |
5,000 years ago |
Scandinavia |
|
| R1b-L21 |
4,000 years ago |
Central or Eastern Europe |
|
| R1b-S28 |
3,500 years ago |
around the Alps |
|
| R1b-S21 |
3,000 years ago |
Frisia or Central Europe |
|
| I2b1a |
< 3,000 years ago |
Britain |
|
See also
References
- ^ Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. http://www.genome.org/cgi/content/abstract/gr.7172008v1.
- ^ Passarino Giuseppe, Cavalleri Gianpiero L, Lin Alice A et al., Cavalli-Sforza LL, B�rresen-Dale AL, Underhill PA (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.
- ^ 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.
- ^ "Y-DNA Haplogroup Tree 2010". International Society of Genetic Genealogy. http://www.isogg.org/tree/. Retrieved July 2010.
- ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2258157.
- ^ 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
External links
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