Haplogroup E-P2
From Wikipedia the free encyclopedia
Haplogroup E-P2 | |
---|---|
Possible time of origin | 41,400–49,800 years BP[1] |
Coalescence age | 39,200–41,400 years BP[1] |
Possible place of origin | East Africa[2][3] |
Ancestor | E-P177 |
Descendants | E-V38, E-M215 |
Defining mutations | DYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181 |
Haplogroup E-P2, also known as E1b1, is a human Y-chromosome DNA haplogroup. E-P2 has two basal branches, E-V38 and E-M215. E-P2 had an ancient presence in East Africa and the Levant; presently, it is primarily distributed in Africa where it may have originated, and occurs at lower frequencies in the Middle East and Europe.
Origins
[edit]Semino et al. (2004) suggested an origin in East Africa stating: "Both phylogeography and microsatellite variance suggest that E-P2 and its derivative, E-M35, probably originated in eastern Africa."[2]
Trombetta et al. (2011) would also suggested an origin in East Africa:
The new topology here reported has important implications as to the origins of the haplogroup E-P2. Using the principle of the phylogeographic parsimony, the resolution of the E-M215 trifurcation in favor of a common ancestor of E-M2 and E-M329 strongly supports the hypothesis that haplogroup E-P2 originated in eastern Africa, as previously suggested, and that chromosomes E-M2, so frequently observed in sub-Saharan Africa, trace their descent to a common ancestor present in eastern Africa.[3]
Ancient DNA
[edit]A sample from the Natufian remains were found to have carried haplogroup E1b1 (1/5; 20%).[4]
At Mota Cave, in Ethiopia, the remains of an ancient Ethiopian male, which was dated to 4500 BP, carried paternal haplogroup E1b1 and maternal haplogroup L3x2a.[5][6]
Distribution
[edit]E-P2 is now found mostly in Africa, mainly in the form of its predominant subclades E-M215 and E-V38. E-M215 is more common in Northern Africa and the Horn of Africa, and is also found at lower frequencies in the Middle East, Europe and Southern Africa. E-V38 is more common in West Africa, Central Africa, Southern Africa and the African Great Lakes, and occurs at lower frequencies in North Africa and Middle East.
The paraclade, referred to as E-P2*, and including cases which are neither in E-V38 or E-M215 are either rare or nonexistent, and so far none have been found.[3]
Semino et al. (2004) found E-P2 (xM35,xM2) in 10.4% of 48 Ethiopian Amhara, 12.8% of 78 Ethiopian Oromo, 1.9% of 53 South African Bantu, and 2.9% of 139 Senegalese.[8]
Wood et al. (2005) have reported finding E-P2(xP1, xM35) in 11% (1/9) of a sample of Oromo from Ethiopia, 11% (1/9) of a sample of Iraqw from Tanzania, 10% (2/20) of a mixed sample of speakers of various South Semitic languages from Ethiopia, 6% (1/18) of a sample of Amhara from Ethiopia, 3% (1/30) of a sample of Ewe from Ghana, 3% (1/32) of a sample of Fante from Ghana, and 3% (1/34) of a sample of Wolof from Gambia/Senegal.[9]
Stefflova et al. (2009) reported one individual out of a sample of 199 African American men from Philadelphia with E-P2 (xM35, xM2).[10]
Cruciani et al. (2002) found E-P2 (xM35, xM2) in: 18% of 22 Ethiopian Jews, 2% of 49 Mossi from Burkina Faso, 3% of 37 Rimaibe also from Burkina Faso, and 6% of 17 Fulbe from Cameroon.[11]
Semino et al. (2002) found E-P2 (xM35, xM2) in 18.2% of 88 Ethiopians.[12][13]
Moran et al. (2004) found E-P2 (xM35, xM2) in Ethiopian athletes and control groups and reported the following results; General control: 4%(4/95), Arsi control: 8%(7/85), 5-10K: 22%(5/23) and Track and Field: 11%(2/11).[14]
Subclades
[edit]E-M215
[edit]Haplogroup E-M215 is a subclade of haplogroup E-P2.[1]
E-V38
[edit]Haplogroup E-V38 is a subclade of haplogroup E-P2.[1]
E-M329
[edit]Main article: Haplogroup E-M329
Haplogroup E-M329 is a subclade of haplogroup E-P2.[1]
Phylogenetics
[edit]Phylogenetic history
[edit]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
[edit]The following research teams per their publications were represented in the creation of the YCC tree.
Phylogenetic trees
[edit]This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree of Karafet (2008)[15] and subsequent published research.
E1b1 (P2) | |
See also
[edit]Genetics
[edit]- 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
[edit]- 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
[edit]References
[edit]- ^ a b c d e "E-P177 YTree".
- ^ a b Semino, Ornella; et al. (May 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". American Journal of Human Genetics. 74 (5): 1023–1034. doi:10.1086/386295. ISSN 0002-9297. OCLC 4922408279. PMC 1181965. PMID 15069642. 17859431.
- ^ a b c Trombetta et al. (2011)
- ^ Martiniano, Rui; Sanctis, Bianca De; Hallast, Pille; Durbin, Richard (20 December 2020). "Supplementary Material: Placing ancient DNA sequences into reference phylogenies". Molecular Biology and Evolution. 39 (2): 2020.12.19.423614. bioRxiv 10.1101/2020.12.19.423614. doi:10.1093/molbev/msac017. PMC 8857924. PMID 35084493. S2CID 229549849.
- ^ Llorente, M. Gallego; et al. (13 November 2015). "Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa". Science. 350 (6262): 820–822. Bibcode:2015Sci...350..820L. doi:10.1126/science.aad2879. hdl:2318/1661894. PMID 26449472. S2CID 25743789.
- ^ Llorente, M. Gallego; et al. (13 November 2015). "Supplementary Materials: Ancient Ethiopian genome reveals extensive Eurasian admixture in Eastern Africa" (PDF). Science. 350 (6262): 820–822. Bibcode:2015Sci...350..820L. doi:10.1126/science.aad2879. hdl:2318/1661894. PMID 26449472. S2CID 25743789.
- ^ Badro, Danielle A.; Douaihy, Bouchra; Haber, Marc; Youhanna, Sonia C.; Salloum, Angélique; Ghassibe-Sabbagh, Michella; Johnsrud, Brian; Khazen, Georges; Matisoo-Smith, Elizabeth; Soria-Hernanz, David F.; Wells, R. Spencer; Tyler-Smith, Chris; Platt, Daniel E.; Zalloua, Pierre A.; Consortium, The Genographic (2013-01-30). "Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations". PLOS ONE. 8 (1): e54616. Bibcode:2013PLoSO...854616B. doi:10.1371/journal.pone.0054616. ISSN 1932-6203. PMC 559847. PMID 23382925.
- ^ Semino et al. (2004)
- ^ Wood et al. (2005)
- ^ Stefflova et al. (2009)
- ^ Cruciani et al. (2002)
- ^ Semino et al. (2002)
- ^ Underhill et al. (2000)
- ^ Moran et al. (2004)
- ^ Karafet et al. (2008)
Bibliography
[edit]- Cruciani, Fulvio; Santolamazza, Piero; Shen, Peidong; MacAulay, Vincent; Moral, Pedro; Olckers, Antonel; Modiano, David; Holmes, Susan; Destro-Bisol, Giovanni; Coia, Valentina; Wallace, Douglas C.; Oefner, Peter J.; Torroni, Antonio; Cavalli-Sforza, L. Luca; Scozzari, Rosaria; Underhill, Peter A. (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
- Cruciani, Fulvio; La Fratta, Roberta; Santolamazza, Piero; Sellitto, Daniele; Pascone, Roberto; Moral, Pedro; Watson, Elizabeth; Guida, Valentina; Colomb, Eliane Beraud; Zaharova, Boriana; Lavinha, João; Vona, Giuseppe; Aman, Rashid; Calì, Francesco; Akar, Nejat; Richards, Martin; Torroni, Antonio; Novelletto, Andrea; Scozzari, Rosaria (2004), "Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa", The American Journal of Human Genetics, 74 (5): 1014–22, doi:10.1086/386294, PMC 1181964, PMID 15042509
- Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. 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
- Moran, Colin N.; Scott, Robert A.; Adams, Susan M.; Warrington, Samantha J.; Jobling, Mark A.; Wilson, Richard H.; Goodwin, William H.; Georgiades, Evelina; Wolde, Bezabhe; Pitsiladis, Yannis P. (2004), "Y chromosome haplogroups of elite Ethiopian endurance runners", Human Genetics, 115 (6): 492–7, doi:10.1007/s00439-004-1202-y, PMID 15503146, S2CID 13960753
- Semino, Ornella; Santachiara-Benerecetti, A. Silvana; Falaschi, Francesco; Cavalli-Sforza, L. Luca; Underhill, Peter A. (2002), "Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny", The American Journal of Human Genetics, 70 (1): 265–268, doi:10.1086/338306, PMC 384897, PMID 11719903
- Semino, Ornella; Magri, Chiara; Benuzzi, Giorgia; Lin, Alice A.; Al-Zahery, Nadia; Battaglia, Vincenza; MacCioni, Liliana; Triantaphyllidis, Costas; Shen, Peidong; Oefner, Peter J.; Zhivotovsky, Lev A.; King, Roy; Torroni, Antonio; Cavalli-Sforza, L. Luca; Underhill, Peter A.; Santachiara-Benerecetti, A. Silvana (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
- Trombetta, Beniamino; Cruciani, Fulvio; Sellitto, Daniele; Scozzari, Rosaria (2011), MacAulay, Vincent (ed.), "A New Topology of the Human Y Chromosome Haplogroup E1b1 (E-P2) Revealed through the Use of Newly Characterized Binary Polymorphisms", PLOS ONE, 6 (1): e16073, Bibcode:2011PLoSO...616073T, doi:10.1371/journal.pone.0016073, PMC 3017091, PMID 21253605
- Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; Passarino, Giuseppe; Yang, Wei H.; Kauffman, Erin; Bonné-Tamir, Batsheva; Bertranpetit, Jaume; Francalacci, Paolo; Ibrahim, Muntaser; Jenkins, Trefor; Kidd, Judith R.; Mehdi, S. Qasim; Seielstad, Mark T.; Wells, R. Spencer; Piazza, Alberto; Davis, Ronald W.; Feldman, Marcus W.; Cavalli-Sforza, L. Luca; Oefner, Peter. J. (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; Strassmann, Beverly I; Soodyall, Himla; Hammer, Michael F (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
Sources for conversion tables
[edit]- 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. doi:10.1086/318205. PMC 1235276. 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. doi:10.1093/oxfordjournals.molbev.a003906. PMID 11420360.
- Jobling, Mark A.; Tyler-Smith, Chris (2000), "New uses for new haplotypes", Trends in Genetics, 16 (8): 356–62, doi:10.1016/S0168-9525(00)02057-6, 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. doi:10.1038/sj.ejhg.5200597. PMID 11313742.
- 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. doi:10.1086/323299. PMC 1235490. 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, Bibcode:2000Sci...290.1155S, doi:10.1126/science.290.5494.1155, 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. doi:10.1086/302680. PMC 1288383. 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. doi:10.1038/81685. PMID 11062480. S2CID 12893406.