Haplogroup E-M215

Haplogroup E-M215 (former E3b / E1b1b)
Haplogroup E-M215 (former E3b / E1b1b)
Possible time of origin	47,500 - 22,400 BP
Coalescence age	34,800 BP
Possible place of origin	East Africa
Ancestor	E-P2
Descendants	E-M35, E-M281
Defining mutations	M215

Geographic distribution of the Y-chromosome Haplogroup E1b1b

E-M215, also known as E1b1b-M215, is a major human Y-chromosome DNA haplogroup. E-M215 has two basal branches, E-M35 and E-M281. E-M35 is primarily distributed in North Africa and the Horn of Africa, and occurs at moderate frequencies in the Middle East, Europe, and Southern Africa. E-M281 occurs at a low frequency in Ethiopia.

Origins

The origins of E-M215 were dated by Cruciani in 2007 to about 22,400 years ago in East Africa.^[3]^{[Note 1]}

Ancient DNA

According to Lazaridis et al. (2016), Natufian skeletal remains from the ancient Levant predominantly carried the Y-DNA haplogroup E1b1b. Of the five Natufian specimens analyzed for paternal lineages, three belonged to the E1b1b1b2(xE1b1b1b2a, E1b1b1b2b), E1b1(xE1b1a1, E1b1b1b1) and E1b1b1b2(xE1b1b1b2a, E1b1b1b2b) subclades (60%). Haplogroup E1b1b was also found at moderate frequencies among fossils from the ensuing Pre-Pottery Neolithic B culture, with the E1b1b1 and E1b1b1b2(xE1b1b1b2a, E1b1b1b2b) subclades observed in two of seven PPNB specimens (~29%). The scientists suggest that the Levantine early farmers may have spread southward into East Africa, bringing along Western Eurasian and Basal Eurasian ancestral components separate from that which would arrive later in North Africa.

Additionally, haplogroup E1b1b1 has been found in an

North Africans, indicating that they were ancestral to populations in the area.^[7] The E1b1b haplogroup has likewise been observed in ancient Guanche fossils excavated in Gran Canaria and Tenerife on the Canary Islands, which have been radiocarbon-dated to between the 7th and 11th centuries CE. The clade-bearing individuals that were analysed for paternal DNA were inhumed at the Tenerife site, with all of these specimens found to belong to the E1b1b1b1a1 or E-M183 subclade (3/3; 100%).^[8]

Loosdrecht et al. (2018) analysed genome-wide data from seven ancient Iberomaurusian individuals from the Grotte des Pigeons near Taforalt in eastern Morocco. The fossils were directly dated to between 15,100 and 13,900 calibrated years before present. The scientists found that five male specimens with sufficient nuclear DNA preservation belonged to the E1b1b1a1 (M78) subclade, with one skeleton bearing the E1b1b1a1b1 parent lineage to E-V13, another male specimen belonged to E1b1b (M215*).^[9]

Distribution

In Africa, E-M215 is distributed in highest frequencies in the

Western Asia and Europe (especially the Mediterranean and the Balkans).^[10]^[11]^[12]^[13] E-M281 has been found in Ethiopia.^[11]

Almost all E-M215 men are also in E-M35. In 2004, M215 was found to be older than M35 when individuals were found who have the M215 mutation, but do not have M35 mutation.[10] In 2013, Di Cristofaro et al. (2013) found one individual in Khorasan, North-East Iran to be positive for M215 but negative for M35.^[14]

E-M215 and E-M35 are quite common among

Sephardi Y-chromosomes, appears to be one of the major founding lineages of the Jewish population.^[21]^{[Note 2]}

E-M215 association with endurance

Moran et al. (2004) observed that among Y-DNA (paternal) clades borne by elite endurance athletes in Ethiopia, the haplogroup E3b1 was negatively correlated with elite athletic endurance performance,

K*(xP),^[22] and J*(xJ2) were significantly more frequent among the elite endurance athletes.^[22]

Subclades

E-M35

Haplogroup E-M35 is a subclade of E-M215.

E-M281

Haplogroup E-M281 is a subclade of E-M215.

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

Discussion

E-M215 and E1b1b1 are the currently accepted names found in the proposals of the

haplogroup E and haplogroup DE. But in non-standard or older terminologies, E-M215 is for example approximately the same as "haplotype V", still used in publications such as Gérard et al. (2006).^[24]

Phylogenetic trees

Cladogram with the main subclades:

E1b1b (M215)

E1b1b1 (M35)

E1b1b1a (V68)

E-M78

	E-V12

	E-V65

	E-V13

	E-V22

E-V2729

E1b1b1b (Z827)

	E-M81

	E-M123

E1b1b2 (M281)

The following phylogenetic tree is based on the YCC 2008 tree and subsequent published research as summarized by ISOGG. It includes all known subclades as of June 2015 (Trombetta et al. 2015)^[25]^[23]^[24]

E-M215 (E1b1b)
- E-M215*. Rare or non-existent.
- E-M35 (E1b1b1)
  - E-V68 (E1b1b1a)
    - E-V2009. Found in individuals in Sardinia and Morocco.
    - E-M78 (E1b1b1a1). North Africa, Horn of Africa, West Asia, Sicily. (Formerly "E1b1b1a".)
      - E-M78*
      - E-V1477. Found in Tunisian Jews.
      - E-V1083.
        E-V1083*. Found only in Eritrea (1.1%) and Sardinia (0.3%).
        
        E-V13
        
        E-V22
      - E-V1129
        E-V12
        E-V12*
        
        E-V32
        
        E-V264
        E-V259. Found in North Cameroon.
        
        E-V65
        E-CTS194
  - E-Z827 (E1b1b1b)^[26]
    - E-V257/L19 (L19, V257) – E1b1b1b1^[26]
      - E-PF2431
      - E-M81 (M81)
        E-PF2546
        E-PF2546*
        
        E-CTS12227
        E-MZ11
        E-MZ12
        
        E-A929
        E-Z5009
        E-Z5009*
        
        E-Z5010
        
        E-Z5013
        E-Z5013*
        
        E-A1152
        
        E-A2227
        E-A428
        
        E-MZ16
        
        E-PF6794
        E-PF6794*
        
        E-PF6789
        E-MZ21
        
        E-MZ23
        
        E-MZ80
        
        E-A930
        
        E-Z2198/E-MZ46
        E-A601
        
        E-L351
    - E-Z830 (Z830) – E1b1b1b2^[26]
      - E-M123 (M123)
        E-M34 (M34)
        E-M84 (M84)
        E-M136 (M136)
        
        E-M290 (M290)
        
        E-V23 (V23)
        
        E-L791 (L791,L792)
      - E-V1515. E-V1515 and its subclades are mainly restricted to eastern Africa.
        E-V1515*
        
        E-V1486
        E-V1486*
        
        E-V2881
        E-V2881*
        
        E-V1792
        
        E-V92
        
        E-M293 (M293)
        E-M293*
        
        E-P72 (P72)
        
        E-V3065*
        
        E-V1700
        E-V42 (V42)
        
        E-V1785
        E-V1785*
        
        E-V6 (V6)
  - E-V16/E-M281 (E1b1b2). Rare. Found in individuals in Ethiopia, Yemen and Saudi Arabia.

Notes

^ Cruciani et al. (2004): "Several observations point to eastern Africa as the homeland for haplogroup E3b—that is, it had (1) the highest number of different E3b clades (table 1), (2) a high frequency of this haplogroup and a high microsatellite diversity, and, finally, (3) the exclusive presence of the undifferentiated E3b* paragroup." As mentioned above, "E3b" is the old name for E-M215. Semino et al. (2004): "This inference is further supported by the presence of additional Hg E lineal diversification and by the highest frequency of E-P2* and E-M35* in the same region. The distribution of E-P2* appears limited to eastern African peoples. The E-M35* lineage shows its highest frequency (19.2%) in the Ethiopian Oromo but with a wider distribution range than E-P2*." For E-M215 Cruciani et al. (2007) reduced their estimate to 22,400 from 25,600 in Cruciani et al. (2004), re-calibrating the same data.
^ "Paragroup E-M35 * and haplogroup J-12f2a* fit the criteria for major AJ founding lineages because they are widespread both in AJ populations and in Near Eastern populations, and occur at much lower frequencies in European non-Jewish populations." Behar et al. (2004)

References

^ ^a ^b Trombetta 2015.
PMID 31196864
.

^ ^a ^b Cruciani et al. (2007)

^ "E-M215 YTree".

^ Cruciani et al. (2004).

PMID 28556824
.

bioRxiv 10.1101/191569
.

PMID 29107554
.

S2CID 206666517
.

^ ^a ^b ^c Cruciani et al. (2004)

^ ^a ^b ^c ^d Semino et al. (2004)

^ Rosser et al. (2000)

^ Firasat et al. (2006)

S2CID 16455960
.

PMID 23382925
.

^ Ehret, Keita & Newman (2004); Keita & Boyce (2005); Keita (2008).

^ Behar et al. (2003)

^ Behar et al. (2004)

^ Shen et al. (2004)

^ Adams et al. (2008)

^ Nebel et al. (2001)

^
S2CID 13960753
. Retrieved 6 February 2017.

^ ^a ^b Karafet et al. (2008)

^ ^a ^b Y Chromosome Consortium "YCC" (2002)

^ ISOGG (2011)

^ ^a ^b ^c ISOGG 2015

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Sources for conversion tables

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Retrieved from "https://en.wikipedia.org/w/index.php?title=Haplogroup_E-M215&oldid=1219111291"

[vanOven2014-29] S2CID 23291764
.

[ISOGG2015-30] International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)

[A0-T-31] Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4).

[A1-32] Haplogroup A1 is also known as A1'2'3'4.

[LT-33] Haplogroup LT (L298/P326) is also known as Haplogroup K1.

[K2-34] 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-35] PMID 27111036
. In the past, other haplogroups, including NO (M214) and K2e had also been identified with the name "K2a".

[K2b-36] Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.

[K2e-37] Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).

[K-M2313-38] 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)

[K2b1-39] Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.

[P-40] Haplogroup P (P295) is also klnown as K2b2.

[S-41] Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)

[M-42] Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

[6] Cruciani et al. (2004): "Several observations point to eastern Africa as the homeland for haplogroup E3b—that is, it had (1) the highest number of different E3b clades (table 1), (2) a high frequency of this haplogroup and a high microsatellite diversity, and, finally, (3) the exclusive presence of the undifferentiated E3b* paragroup." As mentioned above, "E3b" is the old name for E-M215. Semino et al. (2004): "This inference is further supported by the presence of additional Hg E lineal diversification and by the highest frequency of E-P2* and E-M35* in the same region. The distribution of E-P2* appears limited to eastern African peoples. The E-M35* lineage shows its highest frequency (19.2%) in the Ethiopian Oromo but with a wider distribution range than E-P2*." For E-M215 Cruciani et al. (2007) reduced their estimate to 22,400 from 25,600 in Cruciani et al. (2004), re-calibrating the same data.

[23] "Paragroup E-M35 * and haplogroup J-12f2a* fit the criteria for major AJ founding lineages because they are widespread both in AJ populations and in Near Eastern populations, and occur at much lower frequencies in European non-Jewish populations." Behar et al. (2004)

[FOOTNOTETrombetta2015-1] Trombetta 2015.

[ReferenceC-2] PMID 31196864
.

[Cruciani2007-3] Cruciani et al. (2007)

[YFull-4] "E-M215 YTree".

[FOOTNOTECrucianiLa_FrattaSantolamazzaSellitto2004-5] Cruciani et al. (2004).

[7] PMID 28556824
.

[8] Rxiv 10.1101/191569
.

[9] PMID 29107554
.

[Taforalt-10] S2CID 206666517
.

[Cruciani2004-11] Cruciani et al. (2004)

[Semino2004-12] Semino et al. (2004)

[Rosser2000-13] Rosser et al. (2000)

[Firasat2006-14] Firasat et al. (2006)

[Di_Cristofaro-15] S2CID 16455960
.

[16] PMID 23382925
.

[FOOTNOTEEhretKeitaNewman2004KeitaBoyce2005Keita2008-17] Ehret, Keita & Newman (2004); Keita & Boyce (2005); Keita (2008).

[pmid13680527-18] Behar et al. (2003)

[Behar2004-19] Behar et al. (2004)

[Shen2004-20] Shen et al. (2004)

[Adams2008-21] Adams et al. (2008)

[Nebel2001-22] Nebel et al. (2001)

[Moran-a-24] 
S2CID 13960753
. Retrieved 6 February 2017.

[Karafet2008-25] Karafet et al. (2008)

[YCC-26] Y Chromosome Consortium "YCC" (2002)

[isogg08-27] ISOGG (2011)

[ISOGG_2015-28] ISOGG 2015

[1]

[2]

[3]

[4]

[5]

[Note 1]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[21]

[Note 2]

[22]

[24]

[25]

[23]

[26]

[χ 1]

[χ 2]

[χ 3]

[χ 4]

[χ 5]

[χ 6]

[χ 7]

[χ 8]

[χ 9]

[χ 10]

[χ 11]

[χ 12]

[χ 13]

[χ 14]