Haplogroup P1 (Y-DNA)

Haplogroup P1
(also known as P-M45; K2b2a)
Haplogroup P1 ; (also known as P-M45; K2b2a)
Possible time of origin	~38,000 BCE
Possible place of origin	Central Asia or Siberia
Ancestor	P (P-P295)
Descendants	Q (Q-M242) and; R (R-M207).
Defining mutations	M45/PF5962

Last updated June 27, 2024

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).

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)

Ancient and modern distribution

P1*

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

35.4% among Tuvan males;
35% among Nivkh and;
28.3% among Altai-Kizhi.^[5]

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.

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References

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.
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.
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.
↑ 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 .
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
1 2 ISOGG (2016). "Y-DNA Haplogroup P" . Retrieved 2016-12-11.
↑ 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 . hdl: 1887/3198847 .
↑ 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.
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

Barać; et al. (2003). "Y chromosomal heritage of Croatian population and its island isolates" (PDF). European Journal of Human Genetics . 11 (7): 535–542. doi: 10.1038/sj.ejhg.5200992 . PMID 12825075. S2CID 15822710.

External links

Spread of Haplogroup P, from The Genographic Project, National Geographic

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[tumonggor-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.

[heyer-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.

[Karafet_2014-3] 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 .

[zgms.cm.umk.pl-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

[isogg2016-6] 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 . hdl: 1887/3198847 .

[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.

[Francalacci-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].)

[vanOven2014-10] Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. S2CID 23291764.

[ISOGG2015-11] International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)

[A0-T-12] Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).

[A1-13] Haplogroup A1 is also known as A1'2'3'4.

[F-Y27277-14] F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89.

[LT-15] Haplogroup LT (L298/P326) is also known as Haplogroup K1.

[K2-16] Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT.

[K2b-17] Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.

[K2b1-18] Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.

[P-19] Haplogroup P (P295) is also klnown as K2b2.

[K-M2313-20] K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)

[S-21] Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

[M-22] Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

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