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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 originNorth Africa or East 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],Fula 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 also 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
Map of African Languages

Haplogroup E1b1a is an important subclade of Haplogroup E1b1 in East Africa, and is the dominant subclade in Sub-Saharan Africa.[7]

It has been hypothesized that E1b1a originated in North 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 languages because of its high frequencies and diversity in West Africa and non-Bantu Niger-Congo languages, this 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

Map of Haplogroup E1b1a distribution in Rosa et al.

History in the Interpretation of the Pattern of p49a,f TaqI RFLP Y-Chromosome Variation in Egypt: A Consideration of Multiple Lines of Evidence E1b1a-M2 is widely distributed through-out the continent of Africa, however, 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).

The Distribution of these markers in other parts of Africa has usually been explained by the ‘‘Bantu migrations

(which occurred 3000-2500 B.C),’’

But their presence in the Nile Valley in Non- Bantu speakers Can Not be explained in this way…

Their existence is better explained by their being present in populations of the “Early Holocene Sahara”, Who went on to people the Nile Valley in The mid-Holocene era (12,000 B.P.) according to Hassan (1988).[15]

E1b1a/M2 has an Origin Date of 20,000-30,000 B.P. This occurred way long before the ‘‘Bantu migrations,’’ Which also do not explain the high frequency of M2 in Senegal, since there are “No Bantu speakers there either.”

S.O.Y. Keita's Study on Y-chromosomes of Egypt:

Y-chromosome (IV) E-M2 is diversified with (1.2% )- Lower Egypt, (27.3%) -Upper Egypt. And ( 39.1% ) -in Lower Nubia/Nile Valley.

Y-chromosome (XI) E-M35 is diversified with (11.7%)-Lower Egypt, (28.8%) – Upper Egypt. And (30.4%) in Lower Nubia/Nile Valley.

Y-chromosome (V) E-M78 is diversified with (51.9%)- Lower Egypt, (24.2%) - Upper Egypt. And (17.4%) in Lower Nubia/Nile Valley.

The M2 lineage is mainly found primarily in ‘‘Eastern,’’ ‘‘sub-Saharan,’’ and sub-equatorial African groups, Those with the highest frequency of the ‘‘Broad’’ trend physiognomy, but found also in notable frequencies in Nubia and Upper Egypt, as indicated by the RFLP TaqI 49a, f variant IV (see Lucotte and Mercier, 2003; Al-Zahery et al. 2003 for equivalences of markers)[16], which is affiliated with it.

Results show that out of three Egyptian triad M78, M35 and M2, Y-chromosome

M78 has the Highest frequency in Northern lower Egypt @ 51.9%

M35 has the slight Highest frequency in Southern Upper Egypt @ 28.8%

M2 has the Highest frequency in Northern and Southern Nubia @ 39.1%.

M2 is virtually absent in North Africa’s lower Egypt at 1.2% and grows to a higher frequency traveling south-bound towards Upper Egypt and Nile valley’s Nubia. [17]


[18] In the Arabian Peninsula, haplogroup E1b1a has been found in 7.6% of a sample of Saudi Arabians,[19] 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.[20] The Somalian population is about 1.5% descendant of M2.[21] 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,[22] 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,[23] 1.4% (2/139) of a sample of males from Iraq,[16] 1.4% (9/638) of a sample of males from Pakistan,[24] and 1.2% (1/81) of a sample of males from Istanbul, Turkey.[25]

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.[26]

Subclades of E1b1a

The E1b1a subclades E1b1a7 and E1b1a8 are widely found throughout West Africans. E1b1a7 also called E-M191, harbor opposite clinal distributions in the Sudanese Belt region. Haplogroup E1b1a7 has a frequency of 23% in Cameroon (where it represents 42% of haplotypes carrying the DYS271 mutation or E-M2), 13% in Burkina Faso (16% of haplotypes carrying the DYS271 mutation or (M2)) and only 1% in Senegal [5], whereas Haplogroup E1b1a* or E-M2 reaches its highest frequency (81%) in Senegal [5]. In other words, as you move to West Africa from west Central Africa the less subclade M-191 is found and the more M-2 is found, this lead Cruciani to concluded "A possible explanation might be that haplogroup E1b1a or E-M2 were already present across the Sudanese belt when the M191 mutation, which defines haplogroup E1b1a7, arose in central western Africa." [2] Moreover, according to Karafet, E1b1a9 has been found only in one Gambian. The haplogroups E1b1a2, E1b1a3, E1b1a4, E1b1a5, and E1b1a6 are quite uncommon as well.[27]

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree [28] 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 i 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. ^ a b 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 c d 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. ^ Hassan F. 1988. The predynastic of Egypt. J World Prehist 2:135–185.
  16. ^ a b 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)
  17. ^ , History in the Interpretation of the Pattern of p49a,f TaqI RFLP Y-Chromosome Variation in Egypt: A Consideration of Multiple Lines of Evidence, [[1]]
  18. ^ 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
  19. ^ 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)
  20. ^ 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
  21. ^ 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)
  22. ^ 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)
  23. ^ 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)
  24. ^ 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
  25. ^ Cengiz Cinnioğlu, Roy King, Toomas Kivisild et al., "Excavating Y-chromosome haplotype strata in Anatolia," Human Genetics (2004) 114 : 127–148
  26. ^ 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)
  27. ^ 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.
  28. ^ Karafet et al. 2008
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