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*'''E1b1a1a1f1''' is defined by marker L514. This SNP is currently without population study data outside of the [[1000 Genomes Project]].
*'''E1b1a1a1f1''' is defined by marker L514. This SNP is currently without population study data outside of the [[1000 Genomes Project]].


*'''E1b1a1a1f1a''' (YCC E1b1a7) is defined by marker M191/P86. Filippo et al. (2011) studied a number of African populations that were E-M2 positive and found the basal E-M191/P86 (without E-P252/U174) in a population of [[Gur languages|Gur]] speakers in Burkina Faso.<ref name="de Filippo2011">{{cite journal|title=Y-chromosomal variation in Sub-Saharan Africa: insights into the history of Niger–Congo groups|journal=Molecular Biology and Evolution|date=2011 Mar 28|first=Cesare|last=de Filippo|coauthors=Chiara Barbieri, Mark Whitten, Sununguko Wata Mpoloka, Ellen Drofn Gunnarsdóttir, Koen Bostoen, Terry Nyambe, Klaus Beyer, Henning Schreiber, Peter de Knijff, Donata Luiselli, Mark Stoneking, and Brigitte Pakendorf|volume=28|issue=3|pages=1255–1269|pmid=21109585|doi=10.1093/molbev/msq312|url=http://mbe.oxfordjournals.org/content/early/2010/11/25/molbev.msq312.abstract|accessdate=}}</ref> Montano et al. (2011) found similar sparse distribution of E-M191* in [[Nigeria]], [[Gabon]], Cameroon and Congo.<ref name="Montano2011" /> M191/P86 positive samples occurred in tested populations of [[Annang]] (38.3%), [[Ibibio people|Ibibio]] (45.6%), [[Efik people|Efik]] (45%), and [[Igbo people|Igbo]] (54.3%) living in Nigeria, West Africa.<ref name="Veeramah" /> E-M191/P86 appears in varying frequencies in Central and Southern Africa but almost all are also positive for P252/U174. Bantu-speaking South Africans (89/343) tested 25.9% positive and [[Khoe languages|Khoe-San]] speaking South Africans tested 7.7% (14/183) positive for this SNP.<ref name="Naidoo">{{cite journal|title=Development of a single base extension method to resolve Y chromosome haplogroups in sub-Saharan African populations|journal=Investigative Genetics|date=1 September 2010|first=Thijessen|last=Naidoo|coauthors=Carina M Schlebusch, Heeran Makkan, Pareen Patel, Rajeshree Mahabeer, Johannes C Erasmus and Himla Soodyall|volume=1|issue=6|pages=6|pmid=21092339|doi=10.1186/2041-2223-1-6|url=http://www.investigativegenetics.com/content/1/1/6|accessdate=2010-09-23|pmc=2988483}}</ref> It also appears commonly in Africans living in the Americas. A population in Rio de Janeiro, Brazil tested (12/130) positive.<ref name="Hünmeier" /> 34.9% (29/83) of [[United States|American]] Haplogroup E men tested positive for M191.<ref name="Sims2007" />
*'''E1b1a1a1f1a''' (YCC E1b1a7) is defined by marker M191/P86. Filippo et al. (2011) studied a number of African populations that were E-M2 positive and found the basal E-M191/P86 (without E-P252/U174) in a population of [[Gur languages|Gur]] speakers in Burkina Faso.<ref name="de Filippo2011">{{cite journal|title=Y-chromosomal variation in Sub-Saharan Africa: insights into the history of Niger–Congo groups|journal=Molecular Biology and Evolution|date=2011 Mar 28|first=Cesare|last=de Filippo|coauthors=Chiara Barbieri, Mark Whitten, Sununguko Wata Mpoloka, Ellen Drofn Gunnarsdóttir, Koen Bostoen, Terry Nyambe, Klaus Beyer, Henning Schreiber, Peter de Knijff, Donata Luiselli, Mark Stoneking, and Brigitte Pakendorf|volume=28|issue=3|pages=1255–1269|pmid=21109585|doi=10.1093/molbev/msq312|url=http://mbe.oxfordjournals.org/content/early/2010/11/25/molbev.msq312.abstract|accessdate=}}</ref> Montano et al. (2011) found similar sparse distribution of E-M191* in [[Nigeria]], [[Gabon]], Cameroon and Congo.<ref name="Montano2011" /> M191/P86 positive samples occurred in tested populations of [[Annang]] (38.3%), [[Ibibio people|Ibibio]] (45.6%), [[Efik people|Efik]] (45%), and [[Igbo people|Igbo]] (54.3%) living in Nigeria, West Africa.<ref name="Veeramah" /> E-M191/P86 appears in varying frequencies in Central and Southern Africa but almost all are also positive for P252/U174. Bantu-speaking South Africans (89/343) tested 25.9% positive and [[Khoe languages|Khoe-San]] speaking South Africans tested 7.7% (14/183) positive for this SNP.<ref name="Naidoo">{{cite journal|title=Development of a single base extension method to resolve Y chromosome haplogroups in sub-Saharan African populations|journal=Investigative Genetics|date=1 September 2010|first=Thijessen|last=Naidoo|coauthors=Carina M Schlebusch, Heeran Makkan, Pareen Patel, Rajeshree Mahabeer, Johannes C Erasmus and Himla Soodyall|volume=1|issue=6|pages=6|pmid=21092339|doi=10.1186/2041-2223-1-6|url=http://www.investigativegenetics.com/content/1/1/6|accessdate=2010-09-23|pmc=2988483}}</ref> It also appears commonly in Africans living in the Americas. A population in Rio de Janeiro, Brazil tested 9.2% (12/130) positive.<ref name="Hünmeier" /> 34.9% (29/83) of [[United States|American]] Haplogroup E men tested positive for M191.<ref name="Sims2007" />
:Veeramah et al. (2010) studies of the recombining portions of M191 positive Y chromosomes suggest that this lineage has "diffusely spread with multiple high frequency haplotypes implying a longer evolutionary period since this haplogroup arose".<ref name="Veeramah">{{cite journal|title=Little genetic differentiation as assessed by uniparental markers in the presence of substantial language variation in peoples of the Cross River region of Nigeria|journal=BMC Evolutionary Biology|date=31 March 2010|first=Krishna R|last=Veeramah|coauthors=Bruce A Connell, Naser Ansari Pour, Adam Powell, Christopher A Plaster, David Zeitlyn, Nancy R Mendell, Michael E Weale, Neil Bradman, Mark G Thomas|volume=10|pages=92|pmid=20356404|pmc=2867817|doi=10.1186/1471-2148-10-92|url=http://www.biomedcentral.com/1471-2148/10/92|accessdate=2010-09-16}}</ref> The subclade E1b1a1a1f1a appears to express opposite clinal distributions to E1b1a1* in the West African Savanna region. Haplogroup E1b1a1a1f1a (E-M191) 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 M2/DYS271 mutation) and only 1% in [[Senegal]].<ref name="Semino2002"/> Similarly, while E1b1a reaches its highest frequency of 81% in Senegal, only 1 of the 139 Senegalese that were tested showed M191/P86.<ref name="Semino2002"/> In other words, as one moves to West Africa from western Central Africa, the less subclade E1b1a1f is found. "A possible explanation might be that haplotype 24 chromosomes [E-M2*] were already present across the Sudanese belt when the M191 mutation, which defines haplotype 22, arose in central western Africa. Only then would a later demic expansion have brought haplotype 22 chromosomes from central western to western Africa, giving rise to the opposite clinal distributions of haplotypes 22 and 24."<ref name="Cruciani2002"/>
:Veeramah et al. (2010) studies of the recombining portions of M191 positive Y chromosomes suggest that this lineage has "diffusely spread with multiple high frequency haplotypes implying a longer evolutionary period since this haplogroup arose".<ref name="Veeramah">{{cite journal|title=Little genetic differentiation as assessed by uniparental markers in the presence of substantial language variation in peoples of the Cross River region of Nigeria|journal=BMC Evolutionary Biology|date=31 March 2010|first=Krishna R|last=Veeramah|coauthors=Bruce A Connell, Naser Ansari Pour, Adam Powell, Christopher A Plaster, David Zeitlyn, Nancy R Mendell, Michael E Weale, Neil Bradman, Mark G Thomas|volume=10|pages=92|pmid=20356404|pmc=2867817|doi=10.1186/1471-2148-10-92|url=http://www.biomedcentral.com/1471-2148/10/92|accessdate=2010-09-16}}</ref> The subclade E1b1a1a1f1a appears to express opposite clinal distributions to E1b1a1* in the West African Savanna region. Haplogroup E1b1a1a1f1a (E-M191) 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 M2/DYS271 mutation) and only 1% in [[Senegal]].<ref name="Semino2002"/> Similarly, while E1b1a reaches its highest frequency of 81% in Senegal, only 1 of the 139 Senegalese that were tested showed M191/P86.<ref name="Semino2002"/> In other words, as one moves to West Africa from western Central Africa, the less subclade E1b1a1f is found. "A possible explanation might be that haplotype 24 chromosomes [E-M2*] were already present across the Sudanese belt when the M191 mutation, which defines haplotype 22, arose in central western Africa. Only then would a later demic expansion have brought haplotype 22 chromosomes from central western to western Africa, giving rise to the opposite clinal distributions of haplotypes 22 and 24."<ref name="Cruciani2002"/>


Revision as of 14:23, 5 August 2012

Haplogroup E1b1a (E-V38)
Possible time of originapprox 20,000-30,000 years BP[1]
Possible place of originWest Africa[1] or East Africa[2]
AncestorE1b1
DescendantsE1b1a1, E1b1a2
Defining mutationsL222.1, V38, V100

In human genetics, Haplogroup E1b1a is a human Y-chromosome DNA haplogroup. It is the phylogenetic term for the series of unique sequence variants on the human Y-chromosome. It is often found in African males and their descendants and is heritably passed in lineage from father to son. Geneticists study these variants in populations to find the evolutionary lineage to a common male human ancestor. From 2002 to 2008, it was known as Haplogroup E3a. It can also be referred to in mutational nomenclature as E-V38.

Origins

The discovery of two SNPs (V38 and V100) by Trombetta et al. (2011) significantly redefined the E1b1a phylogenetic tree. This led the authors to suggest that E1b1a may have originated in East Africa. V38 joins the West African-affiliated E1b1a1 and the northern East African-affiliated E1b1a2 with an earlier common ancestor who, like E1b1, may have also originated in East Africa.[2] It is possible that soon after the evolution of E-V38, trans-Saharan migrants carried the E-V38 marker to northern Central Africa and/or West Africa where the more common E-M2 marker later arose and became prolific within the last 20,000-30,000 years.[1][3] However, the sheer diversity of E-V38 in West Africa supports the earlier held position that the lineage has origins there.[1]

The downstreams SNPs E-L576 and E-M180 both possibly originated on the moist south-central Saharan savannah/grassland of northern West Africa during the early Holocene period. Much of the population that carried E-M2 retreated to southern West Africa with the drying of the Sahara. These later people migrated from Southeastern Nigeria and Cameroon ~8.0 kya to Central Africa, East Africa, and Southern Africa causing or following the Bantu expansion.[4][5][6] According to Wood et al. (2005) and Rosa et al. (2007), such population movements from West Africa changed the pre-existing population Y chromosomal diversity in Western, Central, Southern and southern East Africa, replacing the previous haplogroups frequencies in these areas with the now dominant E1b1a1 lineages. Traces of earlier inhabitants, however, can be observed today in these regions via the presence of the Y DNA haplogroups A1a, A1b, A2, A3, and B-M60 that are common in certain populations, such as the Mbuti and Khoisan.[1][7][8]

Distribution

Map of Haplogroup E1b1a1's distribution in Africa from Rosa et al. (2007)

E1b1a reaches frequencies of over 80% in many parts of West Africa, Central Africa, East Africa as well as Southern Africa.[9] This haplogroup's frequency and diversity are highest in the West Africa region. Within Africa, E1b1a displays a west-to-east as well as a south-to-north clinal distribution. In other words, the frequency of the haplogroup decreases as one moves from western and southern Africa toward the eastern and northern parts of the continent.[10]

Incidence of E1b1a
Population group frequency References
Bamileke 96%-100% [10][11]
Ewe 97% [7]
Ga 97% [7]
Yoruba 93.1% [12]
Tutsi 85% [10]
Fante 84% [7]
Mandinka 79%-87% [1][7]
Ovambo 82% [7]
Senegalese 81% [13]
Ganda 77% [7]
Bijagós 76% [1]
Balanta 73% [1]
Fula 73% [1]
Herero 71% [7]
Nalú 71% [1]

Populations on the northern fringes of West Africa, central Eastern Africa and Madagascar have tested at more moderate frequencies.

Incidence of E1b1a
Population group frequency References
Tuareg from Tânout, Niger 44.4% (8/18 subjects) [14]
Tuareg from Gorom, Burkina Faso 16.6% (3/18) [14]
Tuareg from Gossi, Mali 9.1% (1/9) [14]
Cape Verdeans 15.9% (32/201) [15]
Maasai 15.4% (4/26) [7]
Luo 66% (6/9) [7]
Iraqw 11.11% (1/9) [7]
Comoros 23.46% (69/294) [16]
Merina people (also called Highlanders) 44% (4/9) [17]
Antandroy 69.6% (32/46) [17]
Antanosy 48.9% (23/47) [17]
Antaisaka 37.5% (3/8) [17]

E1b1a is found at low to moderate frequencies in North Africa, and northern East Africa. The some of the lineages found in these areas are possibly due to the Bantu expansion or other migrations.[10][18] The E-M2 marker that appeared in North African samples may stem from recent acquisitions.[10] However, the discovery in 2011 of the E-V38 marker that predates E-M2 has led Trombetta et al. to suggest that E-V38 may have originated in East Africa (please refer to the Origins section for the details).

Incidence of E1b1a
Population group frequency References
Tuareg from Al Awaynat and Tahala, Libya 46.5% (20/43) [Note 1] [19]
Oran, Algeria 8.6% (8/93) [20]
Berbers, southern and north-central Morocco 9.5% (6/63) [21][Note 2]
Morrocan Arabs 6.8% (3/44) [21]
Saharawis 3.5% (1/29) [21]
Egyptians 8.33% (3/36), 1.4% (2/147), and (0/73) [10][22][23]
Tunisians 1.4% (2/148) [23]
Sudanese Hausa 12.5% (4/32) [24]
Somalis 1.5% (3/201) [18]
Ethiopians 3.4% (3/88) [25]
Oromo 2.6% (2/78) [13]
Amhara 0% (0/48)[Note 3] [13]

Outside of Africa, E1b1a has been found at low frequencies. In Eurasia, the clade has primarily been found in West Asia. There have also been reported a few isolated incidents of E1b1a in Southern European populations in Croatia, Malta, Spain and Portugal.[26] [27][28][29] There have also been isolated incidences in Austria and Germany.[citation needed]

Incidence of E1b1a in Eurasia
Population group frequency References
Saudi Arabians 7.6% (12/157)

[30]

Omanis 6.6% (8/121) [10]
Emiratis 5.5% (9/164) [31]
Yemenis 4.8% (3/62) [31]
Majorcans 3.2% (2/62) [29]
Qataris 4.2% (3/72) [31]
Southern Iranans 1.7% (2/117) [32]
Iraqis 1.4% (2/139) [33]
Pakistanis 1.4% (9/638) [34]
Istanbul, Turkey 1.2% (1/81) [35]

The Trans-Atlantic slave trade brought a significant number of men from West and Central Africa to the Americas. Consequently, the haplogroup is often observed in the United States in men who self-identify as African Americans.[9] It has also been observed in a number of populations in Mexico, the Caribbean, Central America, and South America.

Incidence of E1b1a in populations of the Americas
Population group frequency References
African Americans, US 58%-60% [Note 4] [9]
Cubans 9.8% (13/132) [36]
Dominicans 7.69% (2/26) [37]
Puerto Ricans 19.23% (5/26) [37]
Nicaraguans 5.5% (9/165) [38]
Several populations of Colombians 6.18% (69/1116) [39]
Alagoas, Brazil 4.45% (11/247) [40]
Bahia, Brazil 19% (19/100) [41]

Subclades

E1b1a1

E1b1a1 is defined by markers DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, and V95.

E1b1a1a

E1b1a1a is defined by the marker L576. This basal subclade appears to be somewhat uncommon.

E1b1a1a1

E1b1a1a1 is commonly defined by M180/P88. The basal subclade is quite regularly observed in V38+ samples.

E1b1a1a1a

E1b1a1a1a is defined by marker M58. 5% (2/37) of the town Singa-Rimaïbé, Burkina Faso tested positive for E-M58.[11] 15% (10/69) of Hutus in Rwanda tested positive for M58.[10] Three South Africans tested positive for this marker.[8] One Carioca from Rio de Janeiro, Brazil tested positive for the M58 SNP.[42] The place of origin and age is unreported.

E1b1a1a1b

E1b1a1a1b is defined by M116.2, a private marker. A single carrier was found in Mali.[8] [Note 5]

E1b1a1a1c

E1b1a1a1c is defined by private marker M149. This marker was found in a single South African.[8]

E1b1a1a1d

E1b1a1a1d is defined by a private marker M155. It is known from a single carrier in Mali.[8]

E1b1a1a1e

E1b1a1a1e is defined by markers M10, M66, M156 and M195. Wairak people in Tanzania tested 4.6% (2/43) positive for E-M10.[10] E-M10 was found in a single person of the Lissongo group in the Central African Republic and two members in a "Mixed" population from the Adamawa region.[8]

E1b1a1a1f

E1b1a1a1f is defined by L485. The basal node E-L485* appears to be somewhat uncommon but has not been sufficiently tested in large populations. The ancestral L485 SNP (along with several of its subclades) was very recently discovered. Some of these SNPs have little or no published population data and/or have yet to receive nomenclature recognition by the YCC.

  • E1b1a1a1f1 is defined by marker L514. This SNP is currently without population study data outside of the 1000 Genomes Project.
  • E1b1a1a1f1a (YCC E1b1a7) is defined by marker M191/P86. Filippo et al. (2011) studied a number of African populations that were E-M2 positive and found the basal E-M191/P86 (without E-P252/U174) in a population of Gur speakers in Burkina Faso.[43] Montano et al. (2011) found similar sparse distribution of E-M191* in Nigeria, Gabon, Cameroon and Congo.[6] M191/P86 positive samples occurred in tested populations of Annang (38.3%), Ibibio (45.6%), Efik (45%), and Igbo (54.3%) living in Nigeria, West Africa.[44] E-M191/P86 appears in varying frequencies in Central and Southern Africa but almost all are also positive for P252/U174. Bantu-speaking South Africans (89/343) tested 25.9% positive and Khoe-San speaking South Africans tested 7.7% (14/183) positive for this SNP.[45] It also appears commonly in Africans living in the Americas. A population in Rio de Janeiro, Brazil tested 9.2% (12/130) positive.[42] 34.9% (29/83) of American Haplogroup E men tested positive for M191.[9]
Veeramah et al. (2010) studies of the recombining portions of M191 positive Y chromosomes suggest that this lineage has "diffusely spread with multiple high frequency haplotypes implying a longer evolutionary period since this haplogroup arose".[44] The subclade E1b1a1a1f1a appears to express opposite clinal distributions to E1b1a1* in the West African Savanna region. Haplogroup E1b1a1a1f1a (E-M191) 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 M2/DYS271 mutation) and only 1% in Senegal.[13] Similarly, while E1b1a reaches its highest frequency of 81% in Senegal, only 1 of the 139 Senegalese that were tested showed M191/P86.[13] In other words, as one moves to West Africa from western Central Africa, the less subclade E1b1a1f is found. "A possible explanation might be that haplotype 24 chromosomes [E-M2*] were already present across the Sudanese belt when the M191 mutation, which defines haplotype 22, arose in central western Africa. Only then would a later demic expansion have brought haplotype 22 chromosomes from central western to western Africa, giving rise to the opposite clinal distributions of haplotypes 22 and 24."[11]
  • E1b1a1a1f1a1 (YCC E1b1a7a) is defined by P252/U174. It appears to be the most common subclade of E-L485. It is believed to have originated near western Central Africa. It is rarely found in the most western portions of West Africa. Montano et al. (2011) found this subclade very prevalent in Nigeria and Gabon.[6] Filippo et al. (2011) estimated a tMRCA of ~4.2 kya from sample of Yoruba population positive for the SNP.[43]
  • E1b1a1a1f1a1b (YCC E1b1a7a2) is defined by P115. This subclade has only been observed amongst Fang people of Central Africa.[6]
  • E1b1a1a1f1a1c (YCC E1b1a7a3) is defined by P116. Montano et al. (2011) observed this SNP only in Gabon and a Bassa population from Cameroon.[6]
  • E1b1a1a1f1a1d is defined by Z1704. This subclade has been observed across Africa. The 1000 Genomes Project Consortium found this SNP in Yoruba Nigerian, three Kenyan Luhyas and one African descent Puerto Rican.[46]
  • E1b1a1a1f1b is defined by markers L515, L516, L517, and M263.2. This subclade was found by the researchers of Y-Chromosome Genome Comparison Project using data from the commercial bioinformatics company 23andme.[47]

E1b1a1a1g

E1b1a1a1g (YCC E1b1a8) is defined by marker U175. The basal E-U175* is extremely rare. Montano et al. (2011) only found one out of 505 tested African subjects who was U175 positive but negative for U209.[6] Brucato et al. found similarly low frequencies of basal E-U175* in subjects in the Ivory Coast and Benin. Veeramah et al. (2010) found U175 in tested Annang (45.3%), Ibibio (37%), Efik (33.3%), and Igbo (25.3%) but did not test for U209.[44]

The supposed "Bantu haplotype" found in E-U175 carriers is "present at appreciable frequencies in other Niger–Congo languages speaking peoples as far west as Guinea-Bissau".[44] This is the modal haplotype of STR markers that is common in carriers of E-U175.[Note 6]

E-U175 haplotype DYS19 DYS388 DYS390 DYS391 DYS392 DYS393
15 12 21 10 11 13

E1b1a1a1g has several subclades.

  • E1b1a1a1g1 (YCC E1b1a8a) is defined by U209. It is the most prominent subclade of U175. This subclade has very high frequencies of over fifty percentages in Cameroonian populations of Bassa and Bakaka, possibly indicating place of origin. However, E-U209 is widely found at lower frequencies in West and Central African countries surrounding Cameroon and Gabon.[6] Brucato et al. (2010) found the SNP in a populations of Ahizi (in Ivory Coast) 38.8% (19/49), Yacouba (Ivory Coast) 27.5% (11/40), and Beninese 6.5% (5/77) respectively.[48]
  • E1b1a1a1g1a (YCC E1b1a8a1) is defined by U290. The Montano et al. (2011) study of U290 showed a lower frequency in Nigeria (11.7%) and western Central Africa than basal node U209. The highest poulation frequency rate in that study was 57.7% (13/26) in Ewondo in Cameroon.[6] 32.5% (27/83) of American Haplogroup E men tested by Sims et al. (2007) were positive for this SNP.[9]
  • E1b1a1a1g1a2 is defined by Z1725. This marker has been observed by The 1000 Genomes Project Consortium in Youruba Nigerians and Luhya Kenyans. [46]
  • E1b1a1a1g1c (YCC E1b1a4) is defined by M154. A Bamilike population tested 31.3% (15/48) for the marker. Bakaka speakers from Cameroon tested 8%.[11] An Ovimbundu test population found this SNP at 14% (14/100).[49] Members of this subclade have also been found in South Africa.[8][45]
  • E1b1a1a1g1d is defined by V39. Trombetta et al. first published this SNP in 2011 but gave little population data about it.[2] It is only known to have been found in an African population.

E1b1a1a1h

E1b1a1a1h is defined by markers P268 and P269. It was first reported in a person from the Gambia.[50]

E1b1a2

E1b1a2 is defined by the SNP mutation M329.[Note 7] The majority of the few cases so far observed have been found in East Africa. Semino et al. (2004) found 2 Ethiopian Oromo in a study of >2400 individuals, including 78 Oromo.[51] Cadenas et al. (2007) found 1 case in Qatar, out of 72 people tested there in that study.[31]

Tree

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree,[50] the ISOGG Y-DNA Haplogroup E Tree,[4] and subsequent published research.

  • E1b1a (L222.1, V38, V100)
    • E1b1a1 (DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, V95, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133) [Note 8]
      • E1b1a1a (L576)
        • E1b1a1a1 (L86.1, L88.3, M180/P88, PAGES00066, P182, Z1111, Z1112)
          • E1b1a1a1a (M58, PAGES00027)
          • E1b1a1a1b (M116.2)
          • E1b1a1a1c (M149)
          • E1b1a1a1d (M155)
          • E1b1a1a1e (M10, M66, M156, M195)
          • E1b1a1a1f (L485)
            • E1b1a1a1f1 (L514)
              • E1b1a1a1f1a (M191/P86, P253/U247, U186, Z1712, rs9786041)
                • E1b1a1a1f1a1 (P252/U174)
                  • E1b1a1a1f1a1a (P9.2)
                  • E1b1a1a1f1a1b (P115)
                  • E1b1a1a1f1a1c (P116)
                    • E1b1a1a1f1a1c1 (P113)
                  • E1b1a1a1f1a1d (Z1704)
                  • (L372)
              • E1b1a1a1f1b (L515, L516, L517, M263.2)
                • E1b1a1a1f1b1 (Z1893)
                  • (Z1894)
          • E1b1a1a1g (U175)
            • E1b1a1a1g1 (L220.3, L652, P277, P278.1, U209, rs7067329, rs7474403, rs7893016)
              • E1b1a1a1g1a (U290)
                • E1b1a1a1g1a1 (U181)
                  • E1b1a1a1g1a1a (L97)
                • E1b1a1a1g1a2 (Z1725)
                • (L649, L650, L651)
              • E1b1a1a1g1b (P59)
              • E1b1a1a1g1c (M154)
              • E1b1a1a1g1d (V39)
              • (L609, L611)
          • E1b1a1a1h (P268, P269)
    • E1b1a2 (M329)

See also

Notes

  1. ^ All were positive for U175.
  2. ^ The publication refers to E1b1a as H22.
  3. ^ Five of the 48 Amhara tested positive for P2 but were negative for M215,M2 and M329. They were not tested for V38 or L222..
  4. ^ E1b1a is approximately 7.7-7.9% of total US male population.
  5. ^ The publication transposes M116.2 with M116.1 in Table 1.
  6. ^ The YCAII STR marker value of 19-19 is also usually indicative of U175.
  7. ^ It was formerly known as E1b1c.
  8. ^ DYS271/M2/SY81, P1/PN1, P189, P293, and M291 appear to form E1b1a1*. L576 forms a subclade immediately after the previously mentioned SNPs. L576 gave rise to a deeper subclade of M180/P88, P182, L88.3, L86, and PAGES0006. From this subclade, all the major subclades (i.e. E-U175 and E-L485) of E1b1a evolved. The exact position of V43 and V95 within these three subclades and E1b1a1a1b (M116.2), E1b1a1a1c (M149), and E1b1a1a1d (M155) remains uncertain.

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