Haplogroup P1
(also known as P-M45; K2b2a)
Possible time of origin~38,000 BCE
Possible place of originCentral Asia or Siberia [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 Central Asia or Siberia,[2][1] with basal P1* (P1xQ,R) now most common among individuals in Siberia and Central Asia.[5][3][1][6][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 known as Yana RHS.[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 groupLanguage familyCitationSample sizePercentageComments
TuvinianTurkicDarenko 200511335.40P-M45
NivkhNivkhLell 20011735P-M45
Altai-KizhiTurkicDarenko 20059228.3P-M45
TodjinTurkicDarenko 20053622.2P-M45
ChukchiChukotko-KamchatkanLell 20012420.8P-M45
KoryakChukotko-KamchatkanLell 20012718.5P-M45
YupikEskimo–Aleut languagesLell 20013318.2P-M45
UighurTurkicXue 20067017.1P-M45
KalmykMongolicDarenko 20056811.8P-M45
TurkmenTurkicWells 20013010P-M45
SoyotTurkicDarenko 2005348.8P-M45
UriankhaiMongolicKatoh 2004608.3P-M45
KhakasTurkicDarenko 2005537.6P-M45
KazakhTurkicWells 2001545.6P-M45
UzbekTurkicWells 20013665.5P-M45
Khasi-KhmuicAustroasiaticReddy 20093535.40P-M45(xM173)§
MundaAustroasiaticReddy 20096410.90P-M45(xM173)§
NicobareseMon-KhmerReddy 2009110.00P-M45(xM173)§
South-East AsiaAustroasiaticReddy 20092571.60P-M45(xM173)§
GaroTibeto-BurmanReddy 2009711.40P-M45(xM173)§
North-east IndiaTibeto-BurmanReddy 20092263.10P-M45(xM173)§
East AsiaTibeto-BurmanReddy 20092140.00P-M45(xM173)§
Eastern Indiavarious/unknownReddy 20095418.50P-M45(xM173)§
Southern Talysh (Iran)IranianNasidze 2009504.00P-M45(xM124,xM173)
Northern Talysh (Azerbaijan)IranianNasidze 2009405.00P-M45(xM124,xM173)
MazandaraniIranianNasidze 2009504.00P-M45(xM124,xM173)
GilakiIranianNasidze 2009500.00P-M45(xM124,xM173)
TehranIranianNasidze 2004804.00P-M45(xM124,xM173)
IsfahanIranianNasidze 2004506.00P-M45(xM124,xM173)
BakhtiariIranianNasidze 2008532.00P-M45(xM124,xM173)
Iranian ArabsArabicNasidze 2008472.00P-M45(xM124,xM173)
North IranIranianRegueiro 2006339.00P-M45(xM124,xM173)
South IranIranianRegueiro 20061173.00P-M45(xM124,xM173)
South CaucacusGeorgianNasidze and Stoneking 2001773.00P-M45(xM124,xM173)
South CaucacusArmenianNasidze and Stoneking 20011002.00P-M45(xM124,xM173)
Sherpas from NepalTibeto-BurmanBhandari et al. 20155821.67P1(M45) or P(xQ,R1a1,R1b,R2)
Sherpas from TibetTibeto-BurmanBhandari et al. 20155820.64P1(M45) or P(xQ,R1a1,R1b,R2)
Hvar (Dalmatian Islands)CroatianBarać et al. 200314 Possible link to medieval Avar settlers.[9]
Korčula (Dalmatian Islands)CroatianBarać et al. 20036 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. 1 2 3 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. 1 2 3 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. 1 2 Tatiana M Karafet; et al. (2015). "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". 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. 1 2 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. 1 2 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. 1 2 3 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

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