Haplogroup E-M75

Haplogroup E-M75
Possible time of origin	45,000–50,000 years BP
Possible place of origin	East Africa
Ancestor	E-M96
Descendants	E-M41, E-M54
Defining mutations	M75, P68

Haplogroup E-M75 is a human Y-chromosome DNA haplogroup. Along with haplogroup E-P147, it is one of the two main branches of the older haplogroup E-M96.

Distribution

Sorted frequency table of E-M75+ populations. Note that a "?" specifies that the sublineage of E-M75 was either untested for or unreported in the relevant study.

Population	Region	Size	E-M75+	M41+	M54+	E-M75+M41-M54-
Alur[1]	East Africa	9	66.67%	66.67%	0.00%	0.00%
Hema[1]	East Africa	18	38.89%	38.89%	0.00%	0.00%
Xhosa[1]	South Africa	80	27.50%	0.00%	27.50%	0.00%
Rimaibe[2]	Western Africa	37	27.03%	?	27.03%	?
Mbuti Pygmies[2]	Central Africa	12	25.00%	?	25.00%	?
Daba[2]	Central Western Africa	18	22.22%	?	22.22%	?
Eviya[3]	Central Western Africa	24	20.83%	?	?	?
Zulu[1]	South Africa	29	20.69%	0.00%	20.69%	0.00%
Bantu (Kenya)[4]	East Africa	29	17.24%	3.45%	13.79%	0.00%
Ethiopia[5]	East Africa	88	17.05%	17.05%	0.00%	0.00%
Ganda[1]	East Africa	26	15.38%	7.69%	3.85%	3.85%
S.Africa[5]	South Africa	53	15.09%	0.00%	15.09%	0.00%
Comorian Shirazi[6]	East Africa	-	14.00%	0.00%	14.00%	0.00%
Akele[3]	Central Western Africa	50	12.00%	?	?	?
Eshira[3]	Central Western Africa	42	11.90%	?	?	?
Dama[1]	South Africa	18	11.11%	0.00%	5.56%	5.56%
Mixed Nilo-Saharan[2]	Central Western Africa	9	11.11%	?	11.11%	?
Obamba[3]	Central Western Africa	47	10.64%	?	?	?
Orungu[3]	Central Western Africa	21	9.52%	?	?	?
Shake[3]	Central Western Africa	43	9.30%	?	?	?
Senegalese[7]	West Africa	33	9.09%	?	?	?
Hutu[4]	East Africa	69	8.70%	4.35%	4.35%	0.00%
Duma[3]	Central Western Africa	46	8.70%	?	?	?
Malagasy[8]	Madagascar	35	8.57%	0.00%	8.57%	0.00%
Teke[3]	Central Western Africa	48	8.33%	?	?	?
C.Africa[5]	Central Africa	37	8.11%	0.00%	8.11%	0.00%
Mandara[1]	Central Africa	28	7.14%	0.00%	7.14%	0.00%
Ngoumba[1]	Central Africa	31	6.45%	0.00%	6.45%	0.00%
!Kung[2]	South Africa	64	6.25%	?	6.25%	?
Ndumu[3]	Central Western Africa	36	5.56%	?	?	?
African Americans[7]	North America	199	5.53%	?	?	?
Fon[4]	West Africa	100	5.00%	0.00%	5.00%	0.00%
Sudan[5]	East Africa	40	5.00%	5.00%	0.00%	0.00%
Tsogo[3]	Central Western Africa	60	5.00%	?	?	?
Ambo[1]	South Africa	22	4.55%	0.00%	4.55%	0.00%
Mbuti Pygmies[1]	East Africa	47	4.26%	0.00%	4.26%	0.00%
Tutsi[4]	East Africa	94	4.26%	0.00%	4.26%	0.00%
Galoa[3]	Central Western Africa	47	4.26%	?	?	?
Ngumba[3]	Central Western Africa	24	4.17%	?	?	?
Mossi[2]	Western Africa	49	4.08%	?	4.08%	?
Khwe[2]	South Africa	26	3.85%	?	3.85%	?
Sotho-Tswana[1]	South Africa	28	3.57%	0.00%	3.57%	0.00%
Nzebi[3]	Central Western Africa	57	3.51%	?	?	?
Punu[3]	Central Western Africa	58	3.45%	?	?	?
Bakola Pygmies[1]	Central Africa	33	3.03%	0.00%	3.03%	0.00%
Wolof[1]	West Africa	34	2.94%	0.00%	2.94%	0.00%
Senegalese[9]	West Africa	139	2.88%	?	?	?
Mandinka[1]	West Africa	39	2.56%	0.00%	0.00%	2.56%
Kikuyu & Kamba[1]	East Africa	42	2.38%	0.00%	2.38%	0.00%
Wairak[4]	East Africa	43	2.33%	2.33%	0.00%	0.00%
Makina[3]	Central Western Africa	43	2.33%	?	?	?
Benga[3]	Central Western Africa	48	2.08%	?	?	?
Shona[1]	South Africa	49	2.04%	0.00%	0.00%	2.04%
Kota[3]	Central Western Africa	53	1.89%	?	?	?
Dogon[1]	West Africa	55	1.82%	0.00%	1.82%	0.00%
Arabs (Oman)[4]	Near East/Asia	121	1.65%	0.00%	1.65%	0.00%
Ethiopian (Oromo)[9]	East Africa	78	1.28%	?	?	?

Subclades

Paragroup E-M75

Haplogroup E-M75(xM41,M54) has been found in 6% (1/18) of a sample of Dama from Namibia,[1] 4% (1/26) of a sample of Ganda from Uganda,[1] 3% (1/39) of a sample of Mandinka from Gambia/Senegal,[1] and 2% (1/49) of a sample of Shona from Zimbabwe.[1]

E-M41

Haplogroup E-M41 has been found mainly in populations of the Great Lakes and Upper Nile regions of Central-East Africa, including 67% (6/9) of a sample of Alur from the DRC,[1] 39% (7/18) of a sample of Hema from the DRC,[1] 17% (15/88) of a sample from Ethiopia,[5] 8% (2/26) of a sample of Ganda from Uganda,[1] 5% (2/40) of a sample from Sudan,[5] 4% (3/69) of a sample of Hutu from Rwanda,[4] 3% (1/29) of a sample of Bantus from Kenya,[4] and 2% (1/43) of a sample of Iraqw from Tanzania.[4]

E-M54

Haplogroup E-M54 has been found in 28% (22/80) of a sample of Xhosa from South Africa,[1] 27% (10/37) of a sample of Rimaibe from Burkina Faso,[2] 22% (4/18) of a sample of Daba from northern Cameroon,[2] 21% (6/29) of a sample of Zulu from South Africa,[1] 15% (8/53) of a sample of non-Khoisan Southern Africans,[5] 14% (4/29) of a sample of Bantus from Kenya,[4] 14% of a sample of Comorian Shirazi,[6] 11% (1/9) of a small sample of speakers of Central Sudanic and Saharan languages from northern Cameroon,[2] 9% (3/35) of a sample of Malagasy from Madagascar,[8] 8% (3/37) of a sample from Central Africa,[5] 7% (2/28) of a sample of Mandara from northern Cameroon,[1] 6% (2/31) of a sample of Ngumba from southern Cameroon,[1] 6% (4/64) of a sample of !Kung from South Africa,[2] 6% (1/18) of a sample of Dama from Namibia,[1] 5% (5/100) of a sample of Fon from Benin,[4] 5% (1/22) of a sample of Ambo from Namibia,[1] 4% (3/69) of a sample of Hutu from Rwanda,[4] 4% (4/94) of a sample of Tutsi from Rwanda,[4] 4% (2/47) of a sample of Mbuti from the DRC,[1] 4% (1/26) of a sample of Ganda from Uganda,[1] 4% (1/26) of a sample of Khwe from South Africa,[2] 4% (1/28) of a sample of Sotho-Tswana from South Africa,[1] 3% (1/33) of a sample of Bakola from southern Cameroon,[1] 3% (1/34) of a sample of Wolof from Gambia/Senegal,[1] 3% (2/72) of a sample from Qatar,[10] 2% (1/42) of a sample of Kikuyu and Kamba from Kenya,[1] 2% (1/55) of a sample of Dogon from Mali,[1] and approximately 2% of a sample of 121 Arabs from Oman.[4]

It has been suggested that haplogroup E-M85 Y-chromosomes have spread through Sub-Saharan Africa quite recently based on the fact that Y-STR microsatellite haplotypes associated with these chromosomes show a low degree of differentiation throughout their broad geographic range. Furthermore, the mean variance of STR alleles of E-M85 chromosomes is higher in Central-Western Africans than in the Southern African Khoisan, leading researchers to propose that E-M85 might have been involved in the range expansion of Bantu-speaking peoples from Central-Western Africa toward Southern Africa.[2][3]

E-M98*

E-M98(xM85) has been found in 4% (2/49) of a sample of Mossi from Burkina Faso.[2]

E-M200

E-M200 has been found in 25% (3/12) of a small sample of Mbuti from the Democratic Republic of the Congo.[2] According to Figure 4 of Cruciani (2002), all three Bambuti who exhibit the M200 mutation share an identical microsatellite haplotype based on seven STR loci with one another and with some E-M85(xM200) Khoisan (!Kung and/or Khwe) individuals from South Africa.

Phylogenetics

Phylogenetic history

Prior to 2002, there were in academic literature at least seven naming systems for the Y-Chromosome phylogenetic tree. This led to considerable confusion. In 2002, the major research groups came together and formed the Y-Chromosome Consortium (YCC). They published a joint paper that created a single new tree that all agreed to use. Later, a group of citizen scientists with an interest in population genetics and genetic genealogy formed a working group to create an amateur tree aiming at being, above all, timely. The table below brings together all of these works at the point of the landmark 2002 YCC tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.

YCC 2002/2008 (Shorthand)	(α)	(β)	(γ)	(δ)	(ε)	(ζ)	(η)	YCC 2002 (Longhand)	YCC 2005 (Longhand)	YCC 2008 (Longhand)	YCC 2010r (Longhand)	ISOGG 2006	ISOGG 2007	ISOGG 2008	ISOGG 2009	ISOGG 2010	ISOGG 2011	ISOGG 2012
E-P29	21	III	3A	13	Eu3	H2	B	E*	E	E	E	E	E	E	E	E	E	E
E-M33	21	III	3A	13	Eu3	H2	B	E1*	E1	E1a	E1a	E1	E1	E1a	E1a	E1a	E1a	E1a
E-M44	21	III	3A	13	Eu3	H2	B	E1a	E1a	E1a1	E1a1	E1a	E1a	E1a1	E1a1	E1a1	E1a1	E1a1
E-M75	21	III	3A	13	Eu3	H2	B	E2a	E2	E2	E2	E2	E2	E2	E2	E2	E2	E2
E-M54	21	III	3A	13	Eu3	H2	B	E2b	E2b	E2b	E2b1	-	-	-	-	-	-	-
E-P2	25	III	4	14	Eu3	H2	B	E3*	E3	E1b	E1b1	E3	E3	E1b1	E1b1	E1b1	E1b1	E1b1
E-M2	8	III	5	15	Eu2	H2	B	E3a*	E3a	E1b1	E1b1a	E3a	E3a	E1b1a	E1b1a	E1b1a	E1b1a1	E1b1a1
E-M58	8	III	5	15	Eu2	H2	B	E3a1	E3a1	E1b1a1	E1b1a1	E3a1	E3a1	E1b1a1	E1b1a1	E1b1a1	E1b1a1a1a	E1b1a1a1a
E-M116.2	8	III	5	15	Eu2	H2	B	E3a2	E3a2	E1b1a2	E1b1a2	E3a2	E3a2	E1b1a2	E1b1a2	E1ba12	removed	removed
E-M149	8	III	5	15	Eu2	H2	B	E3a3	E3a3	E1b1a3	E1b1a3	E3a3	E3a3	E1b1a3	E1b1a3	E1b1a3	E1b1a1a1c	E1b1a1a1c
E-M154	8	III	5	15	Eu2	H2	B	E3a4	E3a4	E1b1a4	E1b1a4	E3a4	E3a4	E1b1a4	E1b1a4	E1b1a4	E1b1a1a1g1c	E1b1a1a1g1c
E-M155	8	III	5	15	Eu2	H2	B	E3a5	E3a5	E1b1a5	E1b1a5	E3a5	E3a5	E1b1a5	E1b1a5	E1b1a5	E1b1a1a1d	E1b1a1a1d
E-M10	8	III	5	15	Eu2	H2	B	E3a6	E3a6	E1b1a6	E1b1a6	E3a6	E3a6	E1b1a6	E1b1a6	E1b1a6	E1b1a1a1e	E1b1a1a1e
E-M35	25	III	4	14	Eu4	H2	B	E3b*	E3b	E1b1b1	E1b1b1	E3b1	E3b1	E1b1b1	E1b1b1	E1b1b1	removed	removed
E-M78	25	III	4	14	Eu4	H2	B	E3b1*	E3b1	E1b1b1a	E1b1b1a1	E3b1a	E3b1a	E1b1b1a	E1b1b1a	E1b1b1a	E1b1b1a1	E1b1b1a1
E-M148	25	III	4	14	Eu4	H2	B	E3b1a	E3b1a	E1b1b1a3a	E1b1b1a1c1	E3b1a3a	E3b1a3a	E1b1b1a3a	E1b1b1a3a	E1b1b1a3a	E1b1b1a1c1	E1b1b1a1c1
E-M81	25	III	4	14	Eu4	H2	B	E3b2*	E3b2	E1b1b1b	E1b1b1b1	E3b1b	E3b1b	E1b1b1b	E1b1b1b	E1b1b1b	E1b1b1b1	E1b1b1b1a
E-M107	25	III	4	14	Eu4	H2	B	E3b2a	E3b2a	E1b1b1b1	E1b1b1b1a	E3b1b1	E3b1b1	E1b1b1b1	E1b1b1b1	E1b1b1b1	E1b1b1b1a	E1b1b1b1a1
E-M165	25	III	4	14	Eu4	H2	B	E3b2b	E3b2b	E1b1b1b2	E1b1b1b1b1	E3b1b2	E3b1b2	E1b1b1b2a	E1b1b1b2a	E1b1b1b2a	E1b1b1b2a	E1b1b1b1a2a
E-M123	25	III	4	14	Eu4	H2	B	E3b3*	E3b3	E1b1b1c	E1b1b1c	E3b1c	E3b1c	E1b1b1c	E1b1b1c	E1b1b1c	E1b1b1c	E1b1b1b2a
E-M34	25	III	4	14	Eu4	H2	B	E3b3a*	E3b3a	E1b1b1c1	E1b1b1c1	E3b1c1	E3b1c1	E1b1b1c1	E1b1b1c1	E1b1b1c1	E1b1b1c1	E1b1b1b2a1
E-M136	25	III	4	14	Eu4	H2	B	E3ba1	E3b3a1	E1b1b1c1a	E1b1b1c1a1	E3b1c1a	E3b1c1a	E1b1b1c1a1	E1b1b1c1a1	E1b1b1c1a1	E1b1b1c1a1	E1b1b1b2a1a1

Research publications

The following research teams per their publications were represented in the creation of the YCC tree.

α Jobling and Tyler-Smith 2000 and Kaladjieva 2001
β Underhill 2000
γ Hammer 2001
δ Karafet 2001
ε Semino 2000
ζ Su 1999
η Capelli 2001

Phylogenetic trees

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[11] and subsequent published research.

E-M75 (M75, P68)
- E-M41 (M41/P210)
- E-M98 (M98)
  - E-M54 (M54, M90)
    - E-M85 (M85)
      - E-M200 (M200)
        E-P45 (P45)
        
        E-P258 (P258)

References

Wood et al. (2005)
Cruciani et al. (2002)
Berniell-Lee et al. (2009)
Luis et al. (2004)
Underhill et al. (2000)
Msaidie, Said; et al. (2011). "Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean" (PDF). European Journal of Human Genetics. 19 (1): 89–94. doi:10.1038/ejhg.2010.128. PMC 3039498. PMID 20700146. Retrieved 19 November 2016.
Stefflova et al. (2009)
Hurles Matthew E.; Sykes Bryan C.; Jobling Mark A.; Forster Peter (May 2005), "The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages", American Journal of Human Genetics, 76 (894–901): 894–901, doi:10.1086/430051, PMC 1199379, PMID 15793703
Semino et al. (2004)
Cadenas et al. (2007)
Karafet et al. (2008)

Additional sources

Berniell-Lee, Gemma; Calafell, Francesc; Bosch, Elena; Heyer, Evelyne; Sica, Lucas; Mouguiama-Daouda, Patrick; van Der Veen, Lolke; Hombert, Jean-Marie; et al. (2009), "Genetic and Demographic Implications of the Bantu Expansion: Insights from Human Paternal Lineages", Molecular Biology and Evolution, 26 (7): 1581–9, doi:10.1093/molbev/msp069, PMID 19369595
Cadenas, Alicia M; Zhivotovsky, Lev A; Cavalli-Sforza, Luca L; Underhill, Peter A; Herrera, Rene J (2007), "Y-chromosome diversity characterizes the Gulf of Oman", European Journal of Human Genetics, 16 (3): 374–86, doi:10.1038/sj.ejhg.5201934, PMID 17928816
Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; MacAulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan; et al. (2002), "A Back Migration from Asia to Sub-Saharan Africa is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes", The American Journal of Human Genetics, 70 (5): 1197–214, doi:10.1086/340257, PMC 447595, PMID 11910562
Hurles, Matthew E.; Sykes, Bryan C.; Jobling, Mark A.; Forster, Peter (2005), "The Dual Origin of the Malagasy in Island Southeast Asia and East Africa: Evidence from Maternal and Paternal Lineages", The American Journal of Human Genetics, 76 (5): 894–901, doi:10.1086/430051, PMC 1199379, PMID 15793703
Karafet, Tatiana M.; Mendez, Fernando L.; Meilerman, Monica B.; Underhill, Peter A.; Zegura, Stephen L.; Hammer, Michael F. (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
Luis, J; Rowold, D; Regueiro, M; Caeiro, B; Cinnioglu, C; Roseman, C; Underhill, P; Cavallisforza, L; Herrera, R (2004), "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations", The American Journal of Human Genetics, 74 (3): 532–44, doi:10.1086/382286, PMC 1182266, PMID 14973781
Semino, Ornella; Magri, Chiara; Benuzzi, Giorgia; Lin, Alice A.; Al-Zahery, Nadia; Battaglia, Vincenza; MacCioni, Liliana; Triantaphyllidis, Costas; et al. (2004), "Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area", The American Journal of Human Genetics, 74 (5): 1023–34, doi:10.1086/386295, PMC 1181965, PMID 15069642
Stefflova, Klara; Dulik, Matthew C.; Pai, Athma A.; Walker, Amy H.; Zeigler-Johnson, Charnita M.; Gueye, Serigne M.; Schurr, Theodore G.; Rebbeck, Timothy R. (2009), Relethford, John (ed.), "Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas", PLOS ONE, 4 (11): e7842, Bibcode:2009PLoSO...4.7842S, doi:10.1371/journal.pone.0007842, PMC 2776971, PMID 19946364
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; Passarino, Giuseppe; Yang, Wei H.; Kauffman, Erin; Bonné-Tamir, Batsheva; et al. (2000), "Y chromosome sequence variation and the history of human populations", Nature Genetics, 26 (3): 358–61, doi:10.1038/81685, PMID 11062480, S2CID 12893406
Wood, Elizabeth T; Stover, Daryn A; Ehret, Christopher; Destro-Bisol, Giovanni; Spedini, Gabriella; McLeod, Howard; Louie, Leslie; Bamshad, Mike; et al. (2005), "Contrasting patterns of Y chromosome and mtDNA variation in Africa: Evidence for sex-biased demographic processes", European Journal of Human Genetics, 13 (7): 867–76, doi:10.1038/sj.ejhg.5201408, PMID 15856073

External links

Y-DNA Haplogroup E and Its Subclades from ISOGG 2008

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[vanOven2014-12] 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.

[ISOGG2015-13] International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)

[A0-T-14] Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).

[A1-15] Haplogroup A1 is also known as A1'2'3'4.

[LT-16] Haplogroup LT (L298/P326) is also known as Haplogroup K1.

[K2-17] 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.

[K2a-18] Haplogroup K2a (M2308) and its primary subclade K-M2313 were separated from Haplogroup NO (F549) in 2016. (This followed the publication of: Poznik GD, Xue Y, Mendez FL, et al. (2016). "Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences". Nature Genetics. 48 (6): 593–9. doi:10.1038/ng.3559. PMC 4884158. PMID 27111036. In the past, other haplogroups, including NO (M214) and K2e had also been identified with the name "K2a".

[K2b-19] Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.

[K2e-20] Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).

[K-M2313-21] 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)

[K2b1-22] Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.

[P-23] Haplogroup P (P295) is also klnown as K2b2.

[S-24] Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

[M-25] Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

[Wood2005-1] Wood et al. (2005)

[Cruciani2002-2] Cruciani et al. (2002)

[Berniell-Lee2009-3] Berniell-Lee et al. (2009)

[Luis2004-4] Luis et al. (2004)

[Underhill2000-5] Underhill et al. (2000)

[Msaidie2010-6] Msaidie, Said; et al. (2011). "Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean" (PDF). European Journal of Human Genetics. 19 (1): 89–94. doi:10.1038/ejhg.2010.128. PMC 3039498. PMID 20700146. Retrieved 19 November 2016.

[Stefflova2009-7] Stefflova et al. (2009)

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