Haplogroup E-M96
Haplogroup E | |
---|---|
Possible time of origin | 65,200 years BP,[1] 69,000 years BP,[2] or 73,000 years BP[3] |
Coalescence age | 52,300 years BP[1] |
Possible place of origin | East Africa,[4][5][6][3] West Africa,[7] or Eurasia[8][9] |
Ancestor | DE |
Descendants | E-P147, E-M75 |
Defining mutations | L339, L614, M40/SRY4064/SRY8299, M96, P29, P150, P152, P154, P155, P156, P162, P168, P169, P170, P171, P172, P173, P174, P175, P176 |
Haplogroup E-M96 is a
Origins
Underhill (2001) proposed that haplogroup E may have arisen in East Africa.[10] Some authors as Chandrasekar (2007), accept the earlier position of Hammer (1997) that Haplogroup E may have originated in West Asia,[11] given that:
- E is a clade of haplogroup D, being exclusively distributed in Asia.
- DE is a clade within M168 with the other two major clades, C and F, considered to have already a Eurasianorigin.
However, several discoveries made since the Hammer articles are thought to make an Asian origin less likely:
- Underhill and Kivisild (2007) demonstrated that C and F have a common ancestor meaning that DE has only one sibling which is non-African.[12]
- DE* is found in both Asia and Africa, meaning that not only one, but several siblings of D are found in Asia and Africa.
- Karafet (2008), in which Hammer is a co-author, significantly rearranged time estimates leading to "new interpretations on the geographical origin of ancient sub-clades".[13] Amongst other things this article proposed a much older age for haplogroup E-M96 than had been considered previously, giving it a similar age to Haplogroup D, and DE itself, meaning that there is no longer any strong reason to see it as an offshoot of DE which must have happened long after DE came into existence and had entered Asia.[13]
Kohl et al. (2009) presumed a West African origin for haplogroup E, stating: "From the 20 main haplogroups in the Y-chromosomal haplogroup tree, only 5 were detected in the analysed Amharic population in Ethiopia. Haplogroup A is near the roots of the tree and is only found among males on the African continent. The major haplogroup detected was E. Haplogroup E has its origin in West Africa. Due to immigration haplogroup A, which originally dominated in Ethiopia, has been partly replaced."[7]
In 2015, Poznik & Underhill et al. claimed haplogroup E arose outside Africa, arguing that, "This model of geographical segregation within the CT clade requires just one continental haplogroup exchange (E to Africa), rather than three (D, C, and F out of Africa). The timing of this putative return to Africa, between the emergence of haplogroup E and its differentiation within Africa by 58 kya, is consistent with proposals, based on non–Y chromosome data, of abundant gene flow between Africa and Arabia 50–80 kya."[8]
In 2015, Trobetta et al. suggested an East African origin for haplogroup E, stating: "our phylogeographic analysis, based on thousands of samples worldwide, suggests that the radiation of haplogroup E started about 58 ka, somewhere in sub-Saharan Africa, with a higher posterior probability (0.73) for an eastern African origin."[6]
Cabrera et al. (2018) hypothesizes a
Haber et al. (2019) study proposed an African origin for haplogroup E based on an analysis of the Y-chromosomal
Ancient DNA
Pre-Pottery Neolithic B remains from the Levant were found to have carried haplogroup E (1/7; ~14%).[14]
At Nyarindi Rockshelter, in
At Kindoki, in the
Distribution
Most members of haplogroup E-M96 belong to E1, while haplogroup E2-M75 is rare. Haplogroup E1a is split into two main branches: E1a1 (E-M44) which has been mostly found in Europe, West Asia and among Ashkenazi Jews; and E1a2 (E-Z958) which has been exclusively identified in Sub-Saharan Africa.[17] Haplogroup E-M2 is the most prevalent subclade of E in Sub-Saharan Africa and is strongly associated with expansion of Bantu speakers.
E-M215 is found at high frequencies in
Subclades
E-M96*
Recently it was discovered that 3 East African men previously classified only as E*-M96 could be assigned to a new branch, E-V44, which is a sister branch to E1-P147; E-P147 and E-V44 share the V3725 mutation, making E2-M75 and E-V3725 the two known primary branches of E.[31] Two Saudi private testers from Mecca and Jizan were also found to belong to this elusive and rare branch.[32] It is not known whether or not some (or all) other E*(xE1,E2) in previous studies would fall into V44 as well.
E-P147
E-P147 (also known as E1) is by far the most numerous and widely distributed branch of E-M96. It has two primary branches: E-M132 (E1a) and E-P177 (E1b). Haplogroup E1a is split into two branches: E1a1 (E-M44) which has been mostly found in Europe, West Asia and among Ashkenazi Jews; and E1a2 (E-Z958) which has been exclusively identified in Sub-Saharan Africa.[33]
Haplogroup E-V38 is the ancestor of E-M2 (E1b1a1) which is the most common subclade of E in the entirety of Sub-Saharan Africa, and is strongly associated with the expansion of Bantu speakers throughout Central and Southern Africa. Another descendant of E-V38, E-M329 (E1b1a2), has been observed in an Ethiopian hunter-gatherer from 4,200 ybp, and is mostly found in males from the Horn of Africa and Arabian Peninsula.[35]
On the other hand,
E-M75
Haplogroup E-M75(xM41,M54) has been found in 6% (1/18) of Dama from Namibia,[28] 4% (1/26) of Ganda from Uganda,[28] 3% (1/39) of Mandinka from Gambia/Senegal,[28] and 2% (1/49) of Sena from Mozambique .[28]
Private commercial DNA testing at Family Tree DNA shows numerous E-M75 males originating from the Arabian Peninsula (Saudi Arabia, Bahrain, Kuwait, Yemen, and the United Arab Emirates), and among Ashkenazi Jews.[36] E-M75 has also been identified in a Lebanese male.[37]
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 | E3b3a1 | 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.
Phylogenetic trees
This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) Tree,[38] the ISOGG Y-DNA Haplogroup Tree,[39] and subsequent published research.
E (M96) | |
See also
Genetics
- African admixture in Europe
- Genetic genealogy
- Haplogroup D
- Haplogroup DE
- Haplogroup
- Haplotype
- Human Y-chromosome DNA haplogroup
- Molecular phylogenetics
- Paragroup
- Subclade
- Y-chromosome haplogroups in populations of the world
- Y-DNA haplogroups by ethnic group
- Y-DNA haplogroups in populations of Sub-Saharan Africa
Y-DNA E subclades
- Haplogroup E-L485
- Haplogroup E-M123
- Haplogroup E-M180
- Haplogroup E-M215
- Haplogroup E-M33
- Haplogroup E-M521
- Haplogroup E-M75
- Haplogroup E-M96
- Haplogroup E-P147
- Haplogroup E-P177
- Haplogroup E-P2
- Haplogroup E-V12
- Haplogroup E-V13
- Haplogroup E-V22
- Haplogroup E-V38
- Haplogroup E-M2
- Haplogroup E-V65
- Haplogroup E-V68
- Haplogroup E-Z820
- Haplogroup E-Z827
Y-DNA backbone tree
References
- ^ a b "E YTree".
- PMID 25770088.
- ^ PMID 31196864.
- PMID 15069642.
- PMID 19920170.
- ^ a b Trombetta et al. 2015, Phylogeographic refinement and large scale genotyping of human Y chromosome haplogroup E provide new insights into the dispersal of early pastoralists in the African continent
- ^ S2CID 85094284.
- ^ PMID 27111036.
- ^ PMID 29921229.
- S2CID 9441236.
- S2CID 11860142.
- PMID 18076332.
- ^ PMID 18385274.
- S2CID 229549849.
- ^ S2CID 219604401.
- ^ S2CID 219604401.
- ^ E1a-M132 (Yfull)
- PMID 15042509.
- PMID 15856073. (cf. Appendix A: Y Chromosome Haplotype Frequencies)
- PMID 17662131.
- ^ PMID 11910562.
- ^ PMID 19369595.
- ^ PMID 14973781.
- PMID 18374297.
- PMID 19772609.
- PMID 18976729.
- PMID 19772609.
- ^ PMID 15856073.
- PMID 21109585.
- PMID 23460272.
- PMID 26108492.
- ^ E-FTA45776
- ^ E1a-M132
- PMID 18976729.
- ^ E-M329
- ^ Family Tree DNA public haplotree, Haplogroup E-M75
- ^ Platt, D.E., Artinian, H., Mouzaya, F. et al. Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population. Eur J Hum Genet 29, 581–592 (2021). 10.1038/s41431-020-00765-x
- ^ Krahn, Thomas. "YCC Tree". Houston, Texas: FTDNA. Archived from the original on 26 July 2011. Retrieved 16 May 2011.
- ^ International Society of Genetic Genealogy. "Y-DNA Haplogroup Tree". Retrieved 20 December 2012.
Sources for conversion tables
- Capelli, Cristian; Wilson, James F.; Richards, Martin; Stumpf, Michael P.H.; et al. (February 2001). "A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania". The American Journal of Human Genetics. 68 (2): 432–443. PMID 11170891.
- Hammer, Michael F.; Karafet, Tatiana M.; Redd, Alan J.; Jarjanazi, Hamdi; et al. (1 July 2001). "Hierarchical Patterns of Global Human Y-Chromosome Diversity". Molecular Biology and Evolution. 18 (7): 1189–1203. PMID 11420360.
- Jobling, Mark A.; Tyler-Smith, Chris (2000), "New uses for new haplotypes", Trends in Genetics, 16 (8): 356–62, PMID 10904265
- Kaladjieva, Luba; Calafell, Francesc; Jobling, Mark A; Angelicheva, Dora; et al. (February 2001). "Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages". European Journal of Human Genetics. 9 (2): 97–104. S2CID 21432405.
- Karafet, Tatiana; Xu, Liping; Du, Ruofu; Wang, William; et al. (September 2001). "Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes". The American Journal of Human Genetics. 69 (3): 615–628. PMID 11481588.
- Semino, O.; Passarino, G; Oefner, PJ; Lin, AA; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective", Science, 290 (5494): 1155–9, PMID 11073453
- Su, Bing; Xiao, Junhua; Underhill, Peter; Deka, Ranjan; et al. (December 1999). "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American Journal of Human Genetics. 65 (6): 1718–1724. PMID 10577926.
- Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361. S2CID 12893406.
Further reading
- Arredi, B; Poloni, E; Paracchini, S; Zerjal, T; Fathallah, D; Makrelouf, M; Pascali, V; Novelletto, A; Tylersmith, C (2004). "A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa". The American Journal of Human Genetics. 75 (2): 338–45. PMID 15202071.
- 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. PMID 11910562.
- Cruciani, F; La Fratta, R.; Trombetta, B; Santolamazza, P; Sellitto, D; Colomb, EB; Dugoujon, JM; Crivellaro, F; et al. (2007). "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12". Molecular Biology and Evolution. 24 (6): 1300–11. PMID 17351267. Also see Supplementary Data.
- Hammer, MF; Blackmer, F; Garrigan, D; Nachman, MW; Wilder, JA (2003). "Human population structure and its effects on sampling Y chromosome sequence variation". PMID 12930755.
- Karafet, TM; Mendez, FL; Meilerman, MB; Underhill, PA; Zegura, SL; Hammer, MF (May 2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research. 18 (5): 830–8. PMID 18385274.. Published online April 2, 2008. See also Supplementary Material.
- Sanchez, JJ; Hallenberg, C; Børsting, C; Hernandez, A; Morling, N (2005). "High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males". European Journal of Human Genetics. 13 (7): 856–866. PMID 15756297.. Published online 9 March 2005
- Trombetta (2015). "Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent". Genome Biology and Evolution. 7 (7): 1940–1950. PMID 26108492.
- Wood ET (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes". European Journal of Human Genetics. 13 (7): 867–876. PMID 15856073.
External links
Phylogenetic tree and distribution maps of Y-DNA haplogroup E
- Y-DNA Haplogroup E and Its Subclades from ISOGG 2008
- Map of E1b1b1 distribution in Europe
- Distribution of E1b1a/E3a in Africa
- Frequency Distributions of Y-DNA Haplogroup E and its subclades - with Video Tutorial