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Haplogroup E-V38

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Haplogroup E1b1a or E-M2
Possible time of originapprox 20,000-30,000 years BP[1]
Possible place of originWest Africa[1]
AncestorE1b1
DescendantsE1b1a1, E1b1a2, E1b1a3, E1b1a4, E1b1a5, E1b1a6, E1b1a7, E1b1a8, E1b1a9
Defining mutationsDYS271/M2/SY81, M180/P88, P1/PN1, P46, P182, P189, P211, P293
Highest frequenciesBamileke 96%[2]-100%[3], Ewe 97%[4], Ga 97%[4], Fante 84%[4], Mandinka 79%[4]-87%[1], Ovambo 82%[4], Senegalese 81%[5], Ganda 77%[4], Bijagós 76%[1], Balanta 73%[1], Herero 71%[4], Nalú 71%[1]

In human genetics, Haplogroup E1b1a (M2) is a Y-chromosome haplogroup. From 2002 to 2008, it was known as Haplogroup E3a. It can also be referred to with mutational nomenclature as E-M2.

It is sometime associated with Haplotype IV from Ngo and Lucotte nomenclature that is primarily based on TaqI 49a, f variants, which can be ‘‘translated’’ into biallelic counterparts such as E-M2. [6]

Origin

Phylogenetic relationship of E1b1a with other haplogroup E clades
E1b1b1 origins map
E1b1b1 origins map

Haplogroup E1b1a is a subclade of Haplogroup E in Africa, where it reaches frequencies of over 80% in West Africa.[7] It has been hypothesized that E1b1a originated in Northern Africa, spread to West Africa and then to Middle Africa with the Bantu expansion.[8] However, Rosa et al. (2007) while others suggest that it likely originated in and expanded from West Africa (i.e., the Sudanese Belt) within the last 20,000 to 30,000 years based on the fact that the frequency and diversity of E1b1a in this region are among the highest found.[1][9][10]

Although E-M2 lineages are found in Nilo-Saharan and Afro-Asiatic speaking people, it is often considered to be the signature Y-DNA for the Bantu expansion,in which the Bantu Languages are a subgroup of the Niger-Congo phylum. [1] Furthermore, E-M2 may be considered the signature y-DNA for the Niger-Congo phylum or language because of its high frequencies in the non-Bantu Niger-Congo languages, which means that E1b1a was probably the most common chromosome in West Africa when the Niger-Congo language emerged at least 15,000 YBP (years before present) and thus opens the possibility of an earlier migration and interaction with other E haplogroups in the wetter Sahara/Sahel in early Holocene.[11] [9][12]

Distribution

There exists a west-to-east as well as a south-to-north clinal distribution with respect to E1b1a-M2; in other words, the frequency of this haplogroup increases as one moves from East and North Africa toward West and Southern Africa.[3] Consequently, there are lower frequencies in the Horn of Africa, North Africa, and West Asia, where haplogroup E1b1b has higher frequencies. Some E1b1a lineages in these regions may possibly be related to the Arab slave trade.[3][13] In Egypt, E1b1a appears in approximately 3% of the male population,[3][4] but it has been found in samples of Egyptians with frequency as low as 0% (0/73)[14] and as high as 8% (3/36).[15] In the Arabian Peninsula, haplogroup E1b1a has been found in 7.6% of a sample of Saudi Arabians,[16] 7.4% of a sample of Omanis,[3] 5.5% of a sample of Emiratis, 3.2% of a sample of Yemenis, and 2.8% of a sample of Qataris.[17] The Somalian population is about 1.5% descendant of M2.[18] One study has found haplogroup E1b1a-M2(xM116.1, M155, M10/M66/M156, M149, M58, M154) Y-DNA in 3.4% (3/88) of a sample of males from Ethiopia,[19] but another study has not found any instance of E1b1a-M2 in a sample of 78 Oromo and 48 Amhara males from Ethiopia.[5] Haplogroup E1b1a-M2 has been found in 1.7% (2/117) of a sample of males from southern Iran,[20] 1.4% (2/139) of a sample of males from Iraq,[21] 1.4% (9/638) of a sample of males from Pakistan,[22] and 1.2% (1/81) of a sample of males from Istanbul, Turkey.[23]

The Trans-Atlantic Slave trade brought a significant number of men from West and Middle Africa to the Americas who had the M2 SNP. It has been observed at a frequency of 82% in United States men of paternal African descent.[7] In the northeast state of Bahia, Brazil, E1b1a was found at 18% of the state's sample tested male population.[24]

Subclades of E1b1a

The E1b1a subclades E1b1a7 and E1b1a8 are widely found throughout West Africans. However, according to Karafet, E1b1a9 has been found only in one Gambian. The haplogroups E1b1a2, E1b1a3, E1b1a4, E1b1a5, and E1b1a6 are quite uncommon as well.[25]

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree [26] and subsequent published research.

  • E1b1a (M2, P1, M180 [P88], P46, P182, P189, P211, P293)
    • E1b1a1 (M58)
    • E1b1a2 (M116.2)
    • E1b1a3 (M149)
    • E1b1a4 (M154)
    • E1b1a5 (M155)
    • E1b1a6 (M10, M66, M156, M195)
    • E1b1a7 (M191/P86, U186, P253/U247)
      • E1b1a7a (P252/U174)
        • E1b1a7a1 (P9.2)
        • E1b1a7a2 (P115)
        • E1b1a7a3 (P116)
          • E1b1a7a3a (P113)
    • E1b1a8 (U175)
      • E1b1a8a (U209, P277, P278)
        • E1b1a8a1 (U290)
          • E1b1a8a1a (U181)
            • E1b1a8a1a1 (L97)
        • E1b1a8a2 (P59)
    • E1b1a9 (P268, P269)

See also

Notes

  1. ^ a b c d e f g h Rosa et al. (2007), Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective, BMC Evolutionary Biology (2007), 7:124 doi:10.1186/1471-2148-7-124
  2. ^ Fulvio Cruciani, Piero Santolamazza, Peidong Shen et al., "A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes," American Journal of Human Genetics 70:1197–1214, 2002
  3. ^ a b c d e Luis, J.R. (2004 March). "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations". The American Society of Human Genetics. 74 (3): 532–44. doi:10.1086/382286. PMC 1182266. PMID 14973781. PMID 14973781. {{cite journal}}: Check date values in: |date= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help)
  4. ^ a b c d e f g h Elizabeth T Wood, Daryn A Stover, Christopher Ehret et al., "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes," European Journal of Human Genetics (2005) 13, 867–876. (cf. Appendix A: Y Chromosome Haplotype Frequencies)
  5. ^ a b Semino O, Santachiara-Benerecetti AS, Falaschi F, Cavalli-Sforza LL, Underhill PA (2002). "Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny". Am. J. Hum. Genet. 70 (1): 265–8. doi:10.1086/338306. PMC 384897. PMID 11719903. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  6. ^ Keita et al. (2010), Letter to the editor: Commentary on the Fulani - History, genetics, and linguistics, an adjunct to Hassan et al., 2008
  7. ^ a b Sims et al. (2007), Sub-Populations Within the Major European and African Derived Haplogroups R1b3 and E3a Are Differentiated by Previously Phylogenetically Undefined Y-SNPs, HUMAN MUTATION Mutation in Brief #940 (2007) Online
  8. ^ http://www.isogg.org/tree/ISOGG_HapgrpE09.html Y-DNA Haplogroup E and its Subclades - 2009
  9. ^ a b http://www.familytreedna.com/pdf/AJHG_2004_v74_p1023-1034.pdf 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
  10. ^ https://genographic.nationalgeographic.com/genographic/atlas.html?card=my031, Genographic Project e3a-m2 map
  11. ^ Kruper et al. (2006), http://www.sciencemag.org/cgi/content/abstract/313/5788/803 Climate-Controlled Holocene Occupation in the Sahara: Motor of Africa's Evolution
  12. ^ Hünemeier, Tábita (06 Jun 2007). "Niger-Congo speaking populations and the formation of the Brazilian gene pool: mtDNA and Y-chromosome data". American Journal of Physical Anthropology. 133 (2): 854–867. doi:10.1002/ajpa.20604. PMID 17427922. Retrieved 2009-08-13. {{cite journal}}: Check date values in: |date= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help)
  13. ^ Sanchez et al., High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males, Eu J of Hum Genet (2005) 13, 856–866
  14. ^ Barbara Arredi, Estella S. Poloni, Silvia Paracchini et al., "A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa," American Journal of Human Genetics 75:338–345, 2004
  15. ^ T. M. Karafet, S. L. Zegura, O. Posukh et al., "Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes," American Journal of Human Genetics 64:817–831, 1999
  16. ^ Abu-Amero, Khaled (22 September 2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions" (online). BMC Genetics. 10 (59): 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. PMID 19772609. {{cite journal}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)CS1 maint: unflagged free DOI (link)
  17. ^ Alicia M Cadenas, Lev A Zhivotovsky, Luca L Cavalli-Sforza et al., "Y-chromosome diversity characterizes the Gulf of Oman," European Journal of Human Genetics (2008) 16, 374–386
  18. ^ Sanchez, Juan (9 March 2005). "High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males" (online). European Journal of Human Genetics. 13 (7): 856–866. doi:10.1038/sj.ejhg.5201390. PMID 15756297. PMID 15756297. {{cite journal}}: Unknown parameter |coauthors= ignored (|author= suggested) (help)
  19. ^ Underhill PA, Shen P, Lin AA; et al. (2000). "Y chromosome sequence variation and the history of human populations". Nat. Genet. 26 (3): 358–61. doi:10.1038/81685. PMID 11062480. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  20. ^ Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: tricontinental nexus for Y-chromosome driven migration". Hum. Hered. 61 (3): 132–43. doi:10.1159/000093774. PMID 16770078.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  21. ^ N. Al-Zahery, O. Semino, G. Benuzzi et al., "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations," Molecular Phylogenetics and Evolution (2003)
  22. ^ Sadaf Firasat, Shagufta Khaliq, Aisha Mohyuddin et al., "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan," European Journal of Human Genetics (2007) 15, 121–126
  23. ^ Cengiz Cinnioğlu, Roy King, Toomas Kivisild et al., "Excavating Y-chromosome haplotype strata in Anatolia," Human Genetics (2004) 114 : 127–148
  24. ^ Nascimento, Eugeˆnio (Dec 2009). "The Africa male lineages of Bahia's people—Northeast Brazil: A preliminary SNPs study". Forensic Science International: Genetics Supplement Series 2. 2 (1): 349–350. doi:10.1016/j.fsigss.2009.07.010. {{cite journal}}: |access-date= requires |url= (help); Check date values in: |accessdate= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help)
  25. ^ Karafet, T. et al.: 2008, May "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree", "Genome Research" volume 18(5), page 834.
  26. ^ Karafet et al. 2008
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