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Haplogroup P1 (Y-DNA)

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Haplogroup P1
(P-M45; K2b2a)
Possible place of originSoutheast Asia or East Asia [1][2][3]
AncestorP* (P-P295)[4]
DescendantsQ (Q-M242) and
R (R-M207).
Defining mutationsM45/PF5962

Haplogroup P1, also known as P-M45 and K2b2a, is a Y-chromosome DNA haplogroup in human genetics. Defined by the SNPs M45 and PF5962, P1 is a primary branch (subclade) of P* (P-P295; K2b2).

The only primary subclades of P1 are Haplogroup Q (Q-M242) and Haplogroup R (R-M207). These haplogroups now comprise most of the male lineages among Native Americans, Europeans, Central Asia and South Asia, among other parts of the world.

P1 (M45) likely originated in East Asia or Southeast Asia,[2][1] even though basal P1* (P1xQ,R) is now most common among individuals in Eastern Siberia and Central Asia.[5] Both P* and its precursor, K2b, reach their highest rates among members of the Aeta (or Agta) people of Luzon in the Philippines,[3][1] and; Luzon is also the only location where P*, P1 and haplogroup P2 (P-B253; K2b2b), the only other primary subclade of P*, have been found together.[6][1][2] A 2018 study found basal P1* in two Siberian individuals dated to the Upper Paleolithic (~31,630 cal BP) from a Yana river archaeological site.[7]

Structure

The subclades of Haplogroup P1 with their defining mutation, according to the 2016 ISOGG tree:[6]

  • P1 (M45/PF5962)
    • Q (M242)
      • Q1 (L232/S432)
    • R (M207, P224, P227, P229, P232, P280, P285, L248.2, V45)
      • R1 (M173/P241/Page29)
      • R2 (M479/PF6107)

Modern distribution

P1*

The modern populations with high frequencies of P1* (or P1xQ,R) are located in Central Asia and Eastern Siberia:

Modern South Asian populations also feature P1 (M45) at low to moderate frequencies.[8] In South Asia, P-M45 is most frequent among the Muslims of Manipur (Pangal, 33%), but this may be due to a very small sample size (nine individuals).

A levels of 14% P-M45* on the island of Korčula in Dalmatia (modern Croatia) and 6% on the neighbouring island of Hvar, may be linked to immigration during the early medieval period, by Central Asian peoples such as the Avars.[9]

It is possible that many cases of haplogroup P1 reported in Central Asia, South Asia and/or West Asia are members of rare or less-researched subclades of haplogroups R2 and Q, rather than P1* per se.

Population group Language family Citation Sample size Percentage Comments
Tuvinian Turkic Darenko 2005 113 35.40 P-M45
Nivkh Nivkh Lell 2001 17 35 P-M45
Altai-Kizhi Turkic Darenko 2005 92 28.3 P-M45
Todjin Turkic Darenko 2005 36 22.2 P-M45
Chukchi Chukotko-Kamchatkan Lell 2001 24 20.8 P-M45
Koryak Chukotko-Kamchatkan Lell 2001 27 18.5 P-M45
Yupik Eskimo-Aleut languages Lell 2001 33 18.2 P-M45
Uighur Turkic Xue 2006 70 17.1 P-M45
Kalmyk Mongolic Darenko 2005 68 11.8 P-M45
Turkmen Turkic Wells 2001 30 10 P-M45
Soyot Turkic Darenko 2005 34 8.8 P-M45
Uriankhai Mongolic Katoh 2004 60 8.3 P-M45
Khakas Turkic Darenko 2005 53 7.6 P-M45
Kazakh Turkic Wells 2001 54 5.6 P-M45
Uzbek Turkic Wells 2001 366 5.5 P-M45
Khasi-Khmuic Austroasiatic Reddy 2009 353 5.40 P-M45(xM173)§
Munda Austroasiatic Reddy 2009 64 10.90 P-M45(xM173)§
Nicobarese Mon-Khmer Reddy 2009 11 0.00 P-M45(xM173)§
South-East Asia Austroasiatic Reddy 2009 257 1.60 P-M45(xM173)§
Garo Tibeto-Burman Reddy 2009 71 1.40 P-M45(xM173)§
North-east India Tibeto-Burman Reddy 2009 226 3.10 P-M45(xM173)§
East Asia Tibeto-Burman Reddy 2009 214 0.00 P-M45(xM173)§
Eastern India various/unknown Reddy 2009 54 18.50 P-M45(xM173)§
Southern Talysh (Iran) Iranian Nasidze 2009 50 4.00 P-M45(xM124,xM173)
Northern Talysh (Azerbaijan) Iranian Nasidze 2009 40 5.00 P-M45(xM124,xM173)
Mazandarani Iranian Nasidze 2009 50 4.00 P-M45(xM124,xM173)
Gilaki Iranian Nasidze 2009 50 0.00 P-M45(xM124,xM173)
Tehran Iranian Nasidze 2004 80 4.00 P-M45(xM124,xM173)
Isfahan Iranian Nasidze 2004 50 6.00 P-M45(xM124,xM173)
Bakhtiari Iranian Nasidze 2008 53 2.00 P-M45(xM124,xM173)
Iranian Arabs Arabic Nasidze 2008 47 2.00 P-M45(xM124,xM173)
North Iran Iranian Regueiro 2006 33 9.00 P-M45(xM124,xM173)
South Iran Iranian Regueiro 2006 117 3.00 P-M45(xM124,xM173)
South Caucacus Georgian Nasidze and Stoneking 2001 77 3.00 P-M45(xM124,xM173)
South Caucacus Armenian Nasidze and Stoneking 2001 100 2.00 P-M45(xM124,xM173)
Sherpas from Nepal Tibeto-Burman Bhandari et al. 2015 582 1.67 P1(M45) or P(xQ,R1a1,R1b,R2)
Sherpas from Tibet Tibeto-Burman Bhandari et al. 2015 582 0.64 P1(M45) or P(xQ,R1a1,R1b,R2)
Hvar (Dalmatian Islands) Croatian Barać et al. 2003 14 Possible link to medieval Avar settlers.[9]
Korčula (Dalmatian Islands) Croatian Barać et al. 2003 6 Possible link to medieval Avar settlers.[9]

§ May include members of haplogroup R2.
May include members of haplogroup R1*/R1a*

Population group N P (xQ,xR) Q R Paper
Count % Count % Count %
Gope 16 1 6.4 Sahoo 2006
Oriya Brahmin 24 1 4.2 Sahoo 2006
Mahishya 17 3 17.6 Sahoo 2006
Bhumij 15 2 13.3 Sahoo 2006
Saora 13 3 23.1 Sahoo 2006
Nepali 7 2 28.6 Sahoo 2006
Muslims of Manipur 9 3 33.3 Sahoo 2006
Himachal Pradesh Rajput 15 1 6.7 Sahoo 2006
Lambadi 18 4 22.2 Sahoo 2006
Gujarati Patel 9 2 22.2 Sahoo 2006
Katkari 19 1 5.3 Sahoo 2006
Madia Gond 14 1 7.1 Sahoo 2006
Kamma Chowdary 15 0 0 1 6.7 12 80 Sahoo 2006

Q

Near universal in the Kets (95%) of Siberia. Very common in pre-modern Native American populations, except for the Na-Dene peoples, where it reaches 50-90%.

Also common, at 25-50%, in modern Siberian populations such as the Nivkhs, Selkups, Tuvans, Chukchi, Siberian Eskimos, Northern Altaians, and in 30% of Turkmens.

R

The only discovered case of basal R* (i.e. one that does not belong to R1 or R2) is the Mal'ta Boy.

Subclades of R1b, R1a and R2 are now dominant in various populations from Europe to South Asia.

References

  1. ^ a b c d Tumonggor, Karafet et al., 2014, "Isolation, contact and social behavior shaped genetic diversity in West Timor", Journal of Human Genetics Vol. 59, No. 9 (September), pp. 494–503.
  2. ^ a b c E. Heyer et al., 2013, "Genetic Diversity of Four Filipino Negrito Populations from Luzon: Comparison of Male and Female Effective Population Sizes and Differential Integration of Immigrants into Aeta and Agta Communities", Human Biology, Vol. 85, Iss. 1, p. 201.
  3. ^ a b Tatiana M Karafet; et al. (2015). "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia" (PDF). European Journal of Human Genetics. 23 (3): 369–373. doi:10.1038/ejhg.2014.106. PMC 4326703. PMID 24896152.
  4. ^ Gregory R Magoon; et al. (2013-11-22). "Generation of high-resolution a priori Y-chromosome phylogenies using "next-generation" sequencing data". bioRxiv 10.1101/000802.
  5. ^ a b Miroslava Derenko et al 2005, Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions Zgms.cm.umk.pl
  6. ^ a b ISOGG (2016). "Y-DNA Haplogroup P". Retrieved 2016-12-11.
  7. ^ Sikora, Martin; Pitulko, Vladimir; Sousa, Vitor; Allentoft, Morten E.; Vinner, Lasse; Rasmussen, Simon; Margaryan, Ashot; Damgaard, Peter de Barros; Castro, Constanza de la Fuente (2018-10-22). "The population history of northeastern Siberia since the Pleistocene". bioRxiv: 448829. doi:10.1101/448829.
  8. ^ Sahoo, S. (2006). "A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios". Proceedings of the National Academy of Sciences. 103 (4): 843–8. Bibcode:2006PNAS..103..843S. doi:10.1073/pnas.0507714103. PMC 1347984. PMID 16415161.
  9. ^ a b c Paolo Francalacci & Daria Sanna, "History and geography of human Y-chromosome in Europe: a SNP perspective", Journal of Anthropological Sciences, vol. 86 (2008), pp. 59-89. [Access: Aug 24, 2017].)

Sources