Haplogroup E-M2
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Haplogroup E-M2, also known as E1b1a1-M2, is a human Y-chromosome DNA haplogroup. E-M2 is primarily distributed within Africa followed by West Asia. More specifically, E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of the African Great Lakes; it also occurs at moderate frequencies in North Africa, and the Middle East. E-M2 has several subclades, but many of these subhaplogroups are included in either E-L485 or E-U175. E-M2 is especially common among indigenous Africans who speak Niger-Congo languages, and was spread to Southern Africa and East Africa through the Bantu expansion.


Origins

The discovery of two SNPs (V38 and V100) by Trombetta et al. (2011) significantly redefined the E-V38 phylogenetic tree. This led the authors to suggest that E-V38 may have originated in East Africa. E-V38 joins the West African-affiliated E-M2 and the Northeast African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in East Africa. The downstream SNP E-M180 may have originated in the humid
Sahara The Sahara (, ) is a desert spanning across North Africa. With an area of , it is the largest hot desert in the world and the list of deserts by area, third-largest desert overall, smaller only than the deserts of Antarctica and the northern Ar ...
n savanna/grassland of North Africa between 14,000 BP and 10,000 BP. According to Wood et al. (2005) and Rosa et al. (2007), such population movements changed the pre-existing population Y chromosomal diversity in Central, Southern, and Southeastern Africa, replacing the previous haplogroup 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 Khoisan ( ) or () is an Hypernymy and hyponymy, umbrella term for the various Indigenous peoples of Africa, indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the San people, Sān peo ...
. Shriner et al. (2018) similarly suggests that haplogroup E1b1a-V38 traversed across the Green Sahara from east to west around 19,000 years ago, where E1b1a1-M2 may have subsequently originated in West Africa or Central Africa. Shriner et al. (2018) also traces this movement via sickle cell mutation, which likely originated during the Green Sahara period.


Ancient DNA


Within Africa


Botswana

At Xaro, in Botswana, there were two individuals, dated to the Early
Iron Age The Iron Age () is the final epoch of the three historical Metal Ages, after the Chalcolithic and Bronze Age. It has also been considered as the final age of the three-age division starting with prehistory (before recorded history) and progre ...
(1400 BP); one carried haplogroups E1b1a1a1c1a and L3e1a2, and another carried haplogroups E1b1b1b2b (E-M293, E-CTS10880) and L0k1a2. At Taukome, in Botswana, an individual, dated to the Early Iron Age (1100 BP), carried haplogroups E1b1a1 (E-M2, E-Z1123) and L0d3b1.


Democratic Republic of Congo

At Kindoki, in the Democratic Republic of Congo, there were three individuals, dated to the protohistoric period (230 BP, 150 BP, 230 BP); one carried haplogroups E1b1a1a1d1a2 (E-CTS99, E-CTS99) and L1c3a1b, another carried haplogroup E (E-M96, E-PF1620), and the last carried haplogroups R1b1 (R-P25 1, R-M415) and L0a1b1a1.


Egypt

Hawass et al. (2012) determined that the ancient Egyptian mummy of an unknown man buried with Ramesses III was, because of the proven genetic relationship and a mummification process that suggested punishment, a good candidate for the pharaoh's son, Pentaweret, who was the only son to revolt against his father. It was impossible to determine his cause of death. Using Whit Athey's haplogroup predictor based on Y- STR values, both mummies were predicted to share the Y chromosomal haplogroup E1b1a1-M2 and 50% of their genetic material, which pointed to a father-son relationship. Gad et al. (2021) indicates that Ramesses III and Unknown Man E, possibly Pentawere, carried haplogroup E1b1a.


Kenya

At Deloraine Farm, in Nakuru County, Kenya, an iron metallurgist of the Iron Age carried haplogroups E1b1a1a1a1a/E-M58 and L5b1. At Lamu, Pate Island, Faza, in Kenya, an individual, dated between 1500 CE and 1700 CE, carried haplogroups E1b1a1a1a2a1a and L3e3a. At Taita Taveta, Makwasinyi, in Kenya, an individual, dated between 1650 CE and 1950 CE, carried haplogroups E1b1a1a1a2a1a and L4b2a. At Taita Taveta, Makwasinyi, in Kenya, an individual, dated between 1650 CE and 1950 CE, carried haplogroups E1b1a1a1a2a1a3b1d1c and L1c3b1a. At Taita Taveta, Makwasinyi, in Kenya, an individual, dated between 1650 CE and 1950 CE, carried haplogroups E1b1a1a1a2a1a and L2a1+143. At Taita Taveta, Makwasinyi, in Kenya, an individual, dated between 1667 cal CE and 1843 cal CE, carried haplogroups E1b1a1a1a2a1a3b1d1c and L2a1+143. At Taita Taveta, Makwasinyi, in Kenya, an individual, dated between 1709 cal CE and 1927 cal CE, carried haplogroups E1b1a1a1a2a1a3a1d~ and L3a2.


Tanzania

At Songo Mnara, in Tanzania, an individual, dated between 1418 cal CE and 1450 cal CE, carried haplogroups E1b1a1~ and L3e2b. At Lindi, in Tanzania, an individual, dated between 1511 cal CE and 1664 cal CE, carried haplogroups E1b1a1a1a2a1a3a1d~ and L0a1a2.


Outside of Africa


France

At Pont-sur-Seine, in France, a male individual, dated to the
Middle Neolithic The Neolithic or New Stone Age (from Greek 'new' and 'stone') is an archaeological period, the final division of the Stone Age in Mesopotamia, Asia, Europe and Africa (c. 10,000 BCE to c. 2,000 BCE). It saw the Neolithic Revolution, a wi ...
, carried haplogroups E1b1a1a1a1c2c and U5b1-16189-@16192.


Mexico

At a San Jose de los Naturales Royal Hospital burial site, in Mexico City, Mexico, three enslaved West Africans of West African and Southern African ancestry, dated between 1453 CE and 1626 CE, 1450 CE and 1620 CE, and 1436 CE and 1472 CE, were found; one carried haplogroups E1b1a1a1c1b/E-M263.2 and L1b2a, another carried haplogroups E1b1a1a1d1/E-P278.1/E-M425 and L3d1a1a, and the last carried haplogroups E1b1a1a1c1a1c/E-CTS8030 and L3e1a1a.
Human leukocyte antigen The human leukocyte antigen (HLA) system is a complex of genes on chromosome 6 in humans that encode cell-surface proteins responsible for regulation of the immune system. The HLA system is also known as the human version of the major histo ...
alleles further confirm that the individuals were of
Sub-Saharan Africa Sub-Saharan Africa is the area and regions of the continent of Africa that lie south of the Sahara. These include Central Africa, East Africa, Southern Africa, and West Africa. Geopolitically, in addition to the list of sovereign states and ...
n origin.


Portugal

At Cabeço da Amoreira, in Portugal, an enslaved West African man, who may have been from the Senegambian coastal region of Gambia, Mauritania, or Senegal, and carried haplogroups
E1b1a Haplogroup E-V38, also known as E1b1a-V38, is a major human Y-chromosome DNA haplogroup. E-V38 is primarily distributed in Africa. E-V38 has two basal branches, Haplogroup E-M329, E-M329 and Haplogroup E-M2, E-M2. E-M329 is a subclade mostly foun ...
and L3b1a, was buried among shell middens between the 16th century CE and the 18th century CE.


Saint Helena

In Saint Helena, 20 freed Africans, who were dated to the 19th century CE, were also of western Central African (e.g.,
Bantu peoples The Bantu peoples are an Indigenous peoples of Africa, indigenous ethnolinguistic grouping of approximately 400 distinct native Demographics of Africa, African List of ethnic groups of Africa, ethnic groups who speak Bantu languages. The language ...
of
Gabon Gabon ( ; ), officially the Gabonese Republic (), is a country on the Atlantic coast of Central Africa, on the equator, bordered by Equatorial Guinea to the northwest, Cameroon to the north, the Republic of the Congo to the east and south, and ...
and
Angola Angola, officially the Republic of Angola, is a country on the west-Central Africa, central coast of Southern Africa. It is the second-largest Portuguese-speaking world, Portuguese-speaking (Lusophone) country in both total area and List of c ...
) ancestry. One female individual carried haplogroup L1b1a10b. One female individual carried haplogroup L2a1f. One female individual carried haplogroup L2a1a3c. One male individual carried haplogroups E1b1a1a1a2a1a3b1d and L1c3a. One male individual carried haplogroups E1b1a1a1a1c1a1a and L0a1b2a. One male individual carried haplogroups E1b1a1a1a2a1a3b1a2a2 and L0a1e. One male individual carried haplogroups E1b1a1a1a2a1a3b1 and L2a1f1. One male individual carried haplogroups E1b1a1 and L3. One male individual carried haplogroups E1b1a1a1a2a1a3b1d and L3e1e. One male individual carried haplogroups E1b1a1a1a2a1a3a1d and L3e3b2. One male individual carried haplogroups E1b1a1a1a1c1a1a3 and L3e1a3a. One male individual carried haplogroups E1b1a1a1a2a1a3b1a2a2 and L2b1a. One male individual carried haplogroups E1b1a1a1a2a1a3b1 and L3f1b1a. One male individual carried haplogroups E1b1a1a1a2a1a3b1d1c1a and L3d3a1. One male individual carried haplogroups B2a1a1a1 and L3e2b1. One male individual carried haplogroups E1b1a1a1a2a1a3b1d1c1a and L2a1f. One male individual carried haplogroups E1b1a1a1a1c1a1a3a1c1 and L3e1d1a. One male individual carried haplogroups E1b1a1a1a2a1a3a1d and L1b1a10. One male individual carried haplogroups E1b1a1a1a1c1a1a3a1c and L2a1f1. One male individual carried haplogroups E1b1a1a1a1c1a1 and L2b1a. An enslaved
African American African Americans, also known as Black Americans and formerly also called Afro-Americans, are an Race and ethnicity in the United States, American racial and ethnic group that consists of Americans who have total or partial ancestry from an ...
man and
woman A woman is an adult female human. Before adulthood, a female child or Adolescence, adolescent is referred to as a girl. Typically, women are of the female sex and inherit a pair of X chromosomes, one from each parent, and women with functi ...
, from the 18th century CE Anson Street burial site in
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, who carried haplogroup L3e1e, shared this haplogroup with freed Africans in Saint Helena. Based on those who were present among enlaved Africans, the ratio of males-to-females supports the conclusion of there being a strong selection bias for males in the latter period of the Trans-Atlantic Slave Trade. Consequently, due to this study on the freed Africans of Saint Helena, among other studies, greater genetic insights have been made into the Trans-Atlantic Slave Trade and its effects on the
demographics of Africa The population of Africa has population growth, grown rapidly over the past century and consequently shows a large youth bulge, further reinforced by increasing life expectancy in most List of sovereign states and dependent territories in Afr ...
.


Spain

In
Granada Granada ( ; ) is the capital city of the province of Granada, in the autonomous communities of Spain, autonomous community of Andalusia, Spain. Granada is located at the foot of the Sierra Nevada (Spain), Sierra Nevada mountains, at the confluence ...
, a Muslim ( Moor) of the Cordoba Caliphate, who was of haplogroups E1b1a1 and H1+16189, as well as estimated to date between 900 CE and 1000 CE, and a Morisco, who was of haplogroup L2e1, as well as estimated to date between 1500 CE and 1600 CE, were both found to be of West African (i.e., Gambian) and Iberian descent.


United States of America

At Avery’s Rest, in Chesapeake, Delaware, 3 out of 11 individuals were African Americans, who were dated between 1675 CE and 1725 CE; one was of West African ancestry and carried haplogroups E1b1a-CTS2447 and L3e3b, another was of western Central African Bantu-speaking ancestry and carried E1b1a-Z5974 and L0a1a2, and another was of West African and East African ancestry and carried E1b1a-Z5974 and L3d2. At Catoctin Furnace African American Cemetery, in Catoctin Furnace, Maryland, there were 27 African Americans found who were dated between 1774 CE and 1850 CE. One male individual, who was of 98.14% Sub-Saharan African ancestry, carried haplogroups E1b1a1a1a1c2c and L2a1+143+@16309. One male individual, who was of 83.73% Sub-Saharan African and 7.74% European ancestry, carried haplogroups E1b1a1a1a1c1b1 and L3e2a1b1. One male individual, who was of 84.94% Sub-Saharan African and 9.45% European ancestry, carried haplogroups E1b1a1a1a2a1a and L2a1+143+16189 (16192)+@16309. One male individual, who was of 87.83% Sub-Saharan African and 8.23% European ancestry, carried haplogroups E1b1a1a1a1c1a1a3a1d1 and L3d1b3. One male individual, who was of 98.14% Sub-Saharan African ancestry, carried haplogroups E1b1a1a1a1a and L3e2a1b1. One male individual, who was of 93.87% Sub-Saharan African and 2.58% European ancestry, carried haplogroups E1b1a1a1 and L3e1. One male individual, who was of 98.70% Sub-Saharan African ancestry, carried haplogroups E1b1a1a1a1c1b2a and L2a1a1. One male individual, who was of 97.01% Sub-Saharan African ancestry, carried haplogroups E1b1a1a1a1c1a1 and L3e2a1b1. One male individual, who was of 82.31% Sub-Saharan African and 10.24% European ancestry, carried haplogroups E1b1a1a1a1c1b and L3e2a1b1. One male individual, who was of 91.82% Sub-Saharan African and 5.31% European ancestry, carried haplogroups E1b1a1a1a1c1a1 and L3e2. One male individual, who was of 81.18% Sub-Saharan African and 14.86% European ancestry, carried haplogroups E1b1a1~ and L2c. At an Anson Street burial site, in Charleston, South Carolina, there were 18 African Americans found who were dated to the 18th century CE. Banza was of western Central African ancestry and carried haplogroups E1b1a-CTS668 and L3e3b1. Lima was of West African ancestry and carried haplogroups E1b1a-M4671 and L3b3. Kuto was of western Central African ancestry and carried haplogroups E1b1a-CTS2198 and L2a1a2. Anika was of Sub-Saharan African ancestry and carried haplogroups E1b1a-CTS6126 and L2b1. Nana was of
West Africa West Africa, also known as Western Africa, is the westernmost region of Africa. The United Nations geoscheme for Africa#Western Africa, United Nations defines Western Africa as the 16 countries of Benin, Burkina Faso, Cape Verde, The Gambia, Gha ...
n ancestry and carried haplogroup L2b3a. Zimbu was of western Central African ancestry and carried haplogroups E1b1a-CTS5497 and L3e1e. Wuta was of Sub-Saharan African ancestry and carried haplogroups E1b1a-CTS7305 and L3e2b+152. Daba was of West African ancestry and carried haplogroups E1b1a-M4273 and L2c. Fumu was of Sub-Saharan African ancestry and carried haplogroups B2a1a-Y12201 and L3e2b+152. Lisa was of West African ancestry and carried haplogroups E1b1a-Z6020 and H100. Ganda was of
West Africa West Africa, also known as Western Africa, is the westernmost region of Africa. The United Nations geoscheme for Africa#Western Africa, United Nations defines Western Africa as the 16 countries of Benin, Burkina Faso, Cape Verde, The Gambia, Gha ...
n ancestry and carried haplogroups E1b1a-CTS5612 and L1c1c. Coosaw was of West African and Native American ancestry and carried haplogroups E2b1a-CTS2400 and A2. Kidzera was of western Central African ancestry and carried haplogroup L2a1a2c. Pita was of Sub-Saharan African ancestry and carried haplogroups E1b1a-M4287 and L3e2b. Tima was of western Central African ancestry and carried haplogroup L3e1e. Jode was of Sub-Saharan African ancestry and carried haplogroups E1b1a-CTS4975 and L2a1a2c. Ajana was of western Central African ancestry and carried haplogroup L2a1I. Isi was of western Central African ancestry and carried haplogroup L3e2a.


Medical DNA


Sickle Cell

Amid the Green Sahara, the mutation for sickle cell originated in the Sahara or in the northwest forest region of western Central Africa (e.g., Cameroon) by at least 7,300 years ago, though possibly as early as 22,000 years ago. The ancestral sickle cell haplotype to modern haplotypes (e.g.,
Cameroon Cameroon, officially the Republic of Cameroon, is a country in Central Africa. It shares boundaries with Nigeria to the west and north, Chad to the northeast, the Central African Republic to the east, and Equatorial Guinea, Gabon, and the R ...
/
Central African Republic The Central African Republic (CAR) is a landlocked country in Central Africa. It is bordered by Chad to Central African Republic–Chad border, the north, Sudan to Central African Republic–Sudan border, the northeast, South Sudan to Central ...
and
Benin Benin, officially the Republic of Benin, is a country in West Africa. It was formerly known as Dahomey. It is bordered by Togo to the west, Nigeria to the east, Burkina Faso to the north-west, and Niger to the north-east. The majority of its po ...
/
Senegal Senegal, officially the Republic of Senegal, is the westernmost country in West Africa, situated on the Atlantic Ocean coastline. It borders Mauritania to Mauritania–Senegal border, the north, Mali to Mali–Senegal border, the east, Guinea t ...
haplotypes) may have first arose in the ancestors of modern West Africans, bearing haplogroups E1b1a1-L485 and E1b1a1-U175 or their ancestral haplogroup E1b1a1-M4732. West Africans (e.g., Yoruba and Esan of Nigeria), bearing the Benin sickle cell haplotype, may have migrated through the Northeast Africa into the western
Arabia The Arabian Peninsula (, , or , , ) or Arabia, is a peninsula in West Asia, situated north-east of Africa on the Arabian plate. At , comparable in size to India, the Arabian Peninsula is the largest peninsula in the world. Geographically, the ...
. West Africans (e.g., Mende of Sierra Leone), bearing the Senegal sickle cell haplotype, may have migrated into Mauritania (77% modern rate of occurrence) and Senegal (100%); they may also have migrated across the Sahara, into North Africa, and from North Africa, into Southern Europe, Turkey, and a region near northern Iraq and southern Turkey. Some may have migrated into and introduced the Senegal and Benin sickle cell haplotypes into
Basra Basra () is a port city in Iraq, southern Iraq. It is the capital of the eponymous Basra Governorate, as well as the List of largest cities of Iraq, third largest city in Iraq overall, behind Baghdad and Mosul. Located near the Iran–Iraq bor ...
, Iraq, where both occur equally. West Africans bearing the Benin sickle cell
haplotype A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material (DNA) which is inherited from two parents. Normally these organisms have their DNA orga ...
, may have migrated into the northern region of Iraq (69.5%),
Jordan Jordan, officially the Hashemite Kingdom of Jordan, is a country in the Southern Levant region of West Asia. Jordan is bordered by Syria to the north, Iraq to the east, Saudi Arabia to the south, and Israel and the occupied Palestinian ter ...
(80%),
Lebanon Lebanon, officially the Republic of Lebanon, is a country in the Levant region of West Asia. Situated at the crossroads of the Mediterranean Basin and the Arabian Peninsula, it is bordered by Syria to the north and east, Israel to the south ...
(73%),
Oman Oman, officially the Sultanate of Oman, is a country located on the southeastern coast of the Arabian Peninsula in West Asia and the Middle East. It shares land borders with Saudi Arabia, the United Arab Emirates, and Yemen. Oman’s coastline ...
(52.1%), and
Egypt Egypt ( , ), officially the Arab Republic of Egypt, is a country spanning the Northeast Africa, northeast corner of Africa and Western Asia, southwest corner of Asia via the Sinai Peninsula. It is bordered by the Mediterranean Sea to northe ...
(80.8%).


Distribution

E-M2's frequency and diversity are highest in West Africa. Within Africa, E-M2 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 Africa. Populations in Northwest Africa, central Eastern Africa and
Madagascar Madagascar, officially the Republic of Madagascar, is an island country that includes the island of Madagascar and numerous smaller peripheral islands. Lying off the southeastern coast of Africa, it is the world's List of islands by area, f ...
have tested at more moderate frequencies. E-M2 is found at low to moderate frequencies in North Africa, and Northeast Africa. Some of the lineages found in these areas are possibly due to the Bantu expansion or other migrations. However, the discovery in 2011 of the E-M2 marker that predates E-M2 has led Trombetta et al. to suggest that E-M2 may have originated in East Africa. In Eritrea and most of Ethiopia (excluding the Anuak), E-V38 is usually found in the form of E-M329, which is autochthonous, while E-M2 generally indicates Bantu migratory origins.Plaster et al. Y-DNA E subclades
/ref> Outside of Africa, E-M2 has been found at low frequencies. The clade has been found at low frequencies in West Asia. A few isolated occurrences of E-M2 have also been observed among populations in Southern Europe, such as
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,
Malta Malta, officially the Republic of Malta, is an island country in Southern Europe located in the Mediterranean Sea, between Sicily and North Africa. It consists of an archipelago south of Italy, east of Tunisia, and north of Libya. The two ...
,
Spain Spain, or the Kingdom of Spain, is a country in Southern Europe, Southern and Western Europe with territories in North Africa. Featuring the Punta de Tarifa, southernmost point of continental Europe, it is the largest country in Southern Eur ...
and Portugal. The Trans-Atlantic slave trade brought people to North America, Central America and South America including the Caribbean. Consequently, the haplogroup is often observed in the United States populations in men who self-identify as African Americans. It has also been observed in a number of populations in Mexico, the Caribbean, Central America, and South America among people of African descent.


Subclades


E1b1a1

E1b1a1 is defined by markers DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, and V95. Whilst E1b1a reaches its highest frequency of 81% in Senegal, only 1 of the 139 Senegalese that were tested showed M191/P86. In other words, as one moves to West Africa from western Central Africa, the less subclade E1b1a1f is found. Cruciani et al. (2002) states: "A possible explanation might be that haplotype 24 chromosomes -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 A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material (DNA) which is inherited from two parents. Normally these organisms have their DNA orga ...
22 chromosomes from central western to western Africa, giving rise to the opposite clinal distributions of haplotypes 22 and 24."


E1b1a1a1

E1b1a1a1 is commonly defined by M180/P88. The basal subclade is quite regularly observed in M2+ samples.


E1b1a1a1a

E1b1a1a1a is defined by marker M58. 5% (2/37) of the town Singa-Rimaïbé,
Burkina Faso Burkina Faso is a landlocked country in West Africa, bordered by Mali to the northwest, Niger to the northeast, Benin to the southeast, Togo and Ghana to the south, and Ivory Coast to the southwest. It covers an area of 274,223 km2 (105,87 ...
tested positive for E-M58. 15% (10/69) of Hutus in
Rwanda Rwanda, officially the Republic of Rwanda, is a landlocked country in the Great Rift Valley of East Africa, where the African Great Lakes region and Southeast Africa converge. Located a few degrees south of the Equator, Rwanda is bordered by ...
tested positive for M58. Three South Africans tested positive for this marker. One Carioca from
Rio de Janeiro Rio de Janeiro, or simply Rio, is the capital of the Rio de Janeiro (state), state of Rio de Janeiro. It is the List of cities in Brazil by population, second-most-populous city in Brazil (after São Paulo) and the Largest cities in the America ...
,
Brazil Brazil, officially the Federative Republic of Brazil, is the largest country in South America. It is the world's List of countries and dependencies by area, fifth-largest country by area and the List of countries and dependencies by population ...
tested positive for the M58 SNP. 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.


E1b1a1a1c

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


E1b1a1a1d

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


E1b1a1a1e

E1b1a1a1e is defined by markers M10, M66, M156 and M195. Wairak people in Tanzania tested 4.6% (2/43) positive for E-M10. E-M10 was found in a single person of the Lissongo group in the
Central African Republic The Central African Republic (CAR) is a landlocked country in Central Africa. It is bordered by Chad to Central African Republic–Chad border, the north, Sudan to Central African Republic–Sudan border, the northeast, South Sudan to Central ...
and two members in a "Mixed" population from the
Adamawa region The Adamawa Region () is a constituent region of the Cameroon, Republic of Cameroon. It borders the Centre Region (Cameroon), Centre and East Region (Cameroon), East regions to the south, the Northwest Region (Cameroon), Northwest and West Re ...
.


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. Montano et al. (2011) found similar sparse distribution of E-M191* in Nigeria,
Gabon Gabon ( ; ), officially the Gabonese Republic (), is a country on the Atlantic coast of Central Africa, on the equator, bordered by Equatorial Guinea to the northwest, Cameroon to the north, the Republic of the Congo to the east and south, and ...
, Cameroon and Congo. M191/P86 positive samples occurred in tested populations of Annang (38.3%), Ibibio (45.6%),
Efik The Efik are an ethnic group located primarily in southern Nigeria, and western Cameroon. Within Nigeria, the Efik can be found in the present-day Cross River State and Akwa Ibom state. The Efik speak the Efik language which is a member of the ...
(45%), and Igbo (54.3%) living in Nigeria, West Africa. 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. It also appears commonly in Africans living in the Americas. A population in Rio de Janeiro, Brazil tested 9.2% (12/130) positive. 34.9% (29/83) of African American men tested positive for M191. :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". 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 Senegal, officially the Republic of Senegal, is the westernmost country in West Africa, situated on the Atlantic Ocean coastline. It borders Mauritania to Mauritania–Senegal border, the north, Mali to Mali–Senegal border, the east, Guinea t ...
. Similarly, while E1b1a reaches its highest frequency of 81% in Senegal, only 1 of the 139 Senegalese that were tested showed M191/P86. 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 -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." * 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. Filippo et al. (2011) estimated a tMRCA of ~4.2 kya from sample of Yoruba population positive for the SNP. * E1b1a1a1f1a1b (YCC E1b1a7a2) is defined by P115. This subclade has only been observed amongst Fang people of Central Africa. * E1b1a1a1f1a1c (YCC E1b1a7a3) is defined by P116. Montano et al. (2011) observed this SNP only in Gabon and a Bassa population from Cameroon. * 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. * 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 23andMe Holding Co. is an American personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva testing, sali ...
.


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. 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. The supposed "Bantu haplotype" found in E-U175 carriers is "present at appreciable frequencies in other
Niger–Congo languages Niger–Congo is a hypothetical language family spoken over the majority of sub-Saharan Africa. It unites the Mande languages, the Atlantic–Congo languages (which share a characteristic noun class system), and possibly several smaller groups ...
speaking peoples as far west as
Guinea-Bissau Guinea-Bissau, officially the Republic of Guinea-Bissau, is a country in West Africa that covers with an estimated population of 2,026,778. It borders Senegal to Guinea-Bissau–Senegal border, its north and Guinea to Guinea–Guinea-Bissau b ...
". This is the modal haplotype of STR markers that is common in carriers of E-U175. 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. Brucato et al. (2010) found the SNP in a populations of Ahizi (in
Ivory Coast Ivory Coast, also known as Côte d'Ivoire and officially the Republic of Côte d'Ivoire, is a country on the southern coast of West Africa. Its capital city of Yamoussoukro is located in the centre of the country, while its largest List of ci ...
) 38.8% (19/49), Yacouba (Ivory Coast) 27.5% (11/40), and Beninese 6.5% (5/77) respectively. * 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 population frequency rate in that study was 57.7% (15/26) in Ewondo in Cameroon. 32.5% (27/83) of African American men tested by Sims et al. (2007) were positive for this SNP. * E1b1a1a1g1a2 is defined by Z1725. This marker has been observed by The 1000 Genomes Project Consortium in Yoruba Nigerians and Luhya Kenyans. * E1b1a1a1g1c (YCC E1b1a4) is defined by M154. A Bamilike population tested 31.3% (15/48) for the marker. Bakaka speakers from Cameroon tested 8%. An
Ovimbundu The Ovimbundu, also known as the Southern Mbundu, are a Bantu peoples, Bantu ethnic group who live on the Bié Plateau of central Angola and in the coastal strip west of these highlands. As the largest ethnic group in Angola, they make up 38 pe ...
test population found this SNP at 14% (14/100). Members of this subclade have also been found in South Africa. * E1b1a1a1g1d is defined by V39. Trombetta et al. first published this SNP in 2011 but gave little population data about it. 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 The Gambia, officially the Republic of The Gambia, is a country in West Africa. Geographically, The Gambia is the List of African countries by area, smallest country in continental Africa; it is surrounded by Senegal on all sides except for ...
.


Phylogenetics


Phylogenetic history

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.


Research publications

The following research teams per their publications were represented in the creation of the YCC tree.


Phylogenetic trees

This phylogenetic tree of haplogroup subclades is based on the Y-Chromosome Consortium (YCC) 2008 Tree, the ISOGG Y-DNA Haplogroup E Tree, and subsequent published research. ** E1b1a1 (DYS271/M2/SY81, M291, P1/PN1, P189, P293, V43, V95, Z1101, Z1107, Z1116, Z1120, Z1122, Z1123, Z1124, Z1125, Z1127, Z1130, Z1133) *** 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) ******** 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, M4254, M4230, CTS4921/M4243/V3224) ******* E1b1a1a1g1a (U290) ******** E1b1a1a1g1a1 (U181) ********* E1b1a1a1g1a1a (L97) ******** E1b1a1a1g1a2 (Z1725) ******* E1b1a1a1g1b (P59) ******* E1b1a1a1g1c (M154) ******* E1b1a1a1g1d (V39) ***** E1b1a1a1h (P268, P269)


See also


Genetics


Y-DNA E subclades


Y-DNA backbone tree


Notes


References


Sources for conversion tables

* * * * * * * *


External links


Haplogroup E1b1a FTDNA Project

Distribution of E1b1a/E3a in Africa


from '' National Geographic'' {{DEFAULTSORT:Haplogroup E1b1a (Y-Dna)
E1b1a Haplogroup E-V38, also known as E1b1a-V38, is a major human Y-chromosome DNA haplogroup. E-V38 is primarily distributed in Africa. E-V38 has two basal branches, Haplogroup E-M329, E-M329 and Haplogroup E-M2, E-M2. E-M329 is a subclade mostly foun ...