Haplogroup E1b1 (Y-DNA)

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Haplogroup E1b1
Possible time of origin 35000 years BP
Possible place of origin East Africa[1]
Ancestor E1b
Descendants E1b1a, E1b1b
Defining mutations DYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181

In human genetics, Haplogroup E1b1 (E-P2/PN2) is a human Y-chromosome DNA haplogroup.

Contents

[edit] Origin

E1b1 is likely to have originated in the highlands of East Africa's Ethiopia, as this is the place with the high frequency of ancestral subclades of this haplogroup. E1b1 is the ancestor of the majority of E subclade lineages existing today. It has diverged into two subclades: E1b1a and E1b1b approximately 24-27,000 years ago (Cruciani et al. 2004).

Trombetta et al. 2011, further confirmed the previously suggested place of origin of this haplogroup by stating:

The new topology here reported has important implications as to the origins of the haplogroup E1b1. Using the principle of the phylogeographic parsimony, the resolution of the E1b1b trifurcation in favor of a common ancestor of E-M2 and E-M329 strongly supports the hypothesis that haplogroup E1b1 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.[2]

[edit] Distribution

This haplogroup is found mostly in Africa, mainly in the forms of its predominant sub-clades, E1b1a and E1b1b, with E1b1a being more common in Western Africa, Central Africa, southern Eastern Africa, and Southern Africa and E1b1b being more common in Northern Africa and northern East Africa as well as being found also in Southern Africa and Western Eurasia.

The paraclade, referred to as E1b1* or E-P2*, and including cases which are neither in E1b1a or E1b1b are either rare or nonexistant. So far none have been found.[2]

Semino et al. (2004) found E1b1-P2 (xE1b1b1-M35, xE1b1a1-M2, xE1b1a2-M329) 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.[1]

Wood et al. (2005) have reported finding E1b1-P2(xE1b1a1-P1, xE1b1b1-M35)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.[3]

Stefflova et al. 2009 reported one individual out of a sample of 217 African American men from Philadelphia with E1b1*(xE1b1b1-M35, xE1b1a1-M2).[4]

Cruciani et al. (2002) found E1b1*(xE1b1b1-M35, xE1b1a1-M2) 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.[5]

Semino et al. 2002 found E1b1*(xE1b1b1-M35, xE1b1a1-M2) in 18.2% of 88 Ethiopians.[6]

[edit] Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[7] and subsequent published research.

  • E1b1 (DYS391p, L337, L339, L342, L487, L492, L613, P2/PN2, P179, P180, P181)
    • E1b1a (L222.1, V38, V100)
      • E1b1a1 ( DYS271/M2/SY81, P1/PN1, P189, P293, V43, V95)
      • E1b1a2 (M329)
    • E1b1b (M215/PAGES00040)
      • E1b1b1 (L336, M35.1, M243)
      • E1b1b2 (M281, V16)


Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups

most recent common Y-ancestor
A
A1b A1a-T
A1a A2-T
A2 A3 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
O N Q R

Y-DNA by populations · Famous Y-DNA haplotypes

[edit] References

  1. ^ a b Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J
  2. ^ a b Trombetta, Beniamino; Fulvio Cruciani, Daniele Sellitto, Rosaria Scozzari (6 January 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" (Online). PLoS ONE 6 (1): e16073. doi:10.1371/journal.pone.0016073. PMC 3017091. PMID 21253605. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0016073. Retrieved 7 January 2010. 
  3. ^ 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)
  4. ^ Stefflova et al., K; Dulik, MC; Pai, AA; Walker, AH; Zeigler-Johnson, CM; Gueye, SM; Schurr, TG; Rebbeck, TR et al. (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, doi:10.1371/journal.pone.0007842, PMC 2776971, PMID 19946364, http://www.plosone.org/article/info:doi/10.1371/journal.pone.0007842 
  5. ^ Cruciani et al., F; Santolamazza, P; Shen, P; MacAulay, V; Moral, P; Olckers, A; Modiano, D; Holmes, S et al. (2002), "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 (5): 1197–1214, doi:10.1086/340257, PMC 447595, PMID 11910562, http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B8JDD-4RH3CKT-C-J&_cdi=43612&_user=10&_coverDate=05%2F31%2F2002&_sk=%23TOC%2343612%232002%23999299994%23677124%23FLA%23display%23Volume_70,_Issue_5,_Pages_i-ii,_1077-1388_(May_2002)%23tagged%23Volume%23first%3D70%23Issue%23first%3D5%23date%23(May_2002)%23&view=c&_gw=y&wchp=dGLbVzz-zSkzS&md5=49fa407673a5d86db8983413c144248a&ie=/sdarticle.pdf 
  6. ^ [1], Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny.
  7. ^ Karafet et al. 2008


[edit] External links

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