Haplogroup E3a (Y-DNA)
Encyclopedia
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 evolution
ary 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.
and/or West Africa where the more common E-M2 marker later arose and became prolific within the last 20,000-30,000 years. However, the sheer diversity of E-V38 in West Africa supports the earlier held position that the lineage has origins there.
The downstreams SNPs E-L576 and E-M180 both possibly originated on the moist south-central Sahara
n 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
. 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
.
Populations on the northern fringes of West Africa, central Eastern Africa and Madagascar
have tested at more moderate frequencies.
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. The E-M2 marker that appeared in North African samples may stem from recent acquisitions. 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).
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 Europe
an populations in Malta
, Spain
and Portugal
. There have also been isolated incidences in Austria
and Germany
.
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 American
s. It has also been observed in a number of populations in Mexico
, the Caribbean
, Central America
, and South America
.
, Burkina Faso
tested positive for E-M58. 15% (10/69) of Hutus in Rwanda
tested positive for M58. Three South Africans tested positive for this marker. One Carioca
from Rio de Janeiro
, Brazil
tested positive for the M58 SNP. The place of origin and age is unreported.
.
The publication transposes M116.2 with M116.1 in Table 1.
and two members in a "Mixed" population from the Adamawa region.
.
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
". This is the modal haplotype of STR markers that is common in carriers of E-U175.The YCAII STR marker value of 19-19 is also usually indicative of U175.
E1b1a1a1g has several subclades.
mutation M329.It was formerly known as E1b1c. 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. Cadenas et al. (2007) found 1 case in Qatar
, out of 72 people tested there in that study.
remains uncertain.
Human genetics
Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...
, Haplogroup E1b1a is a human Y-chromosome DNA haplogroup
Human Y-chromosome DNA haplogroups
In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
. 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
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
study these variants in populations to find the evolution
Evolution
Evolution is any change across successive generations in the heritable characteristics of biological populations. Evolutionary processes give rise to diversity at every level of biological organisation, including species, individual organisms and molecules such as DNA and proteins.Life on Earth...
ary lineage
Lineage
Lineage may refer to:- Science :* Lineage or kinship, descent group that can demonstrate their common descent from an apical ancestor or a direct line of decent from an ancestor....
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. It is possible that soon after the evolution of E-V38, trans-Saharan migrants carried the E-V38 marker to northern Central AfricaCentral Africa
Central Africa is a core region of the African continent which includes Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda....
and/or West Africa where the more common E-M2 marker later arose and became prolific within the last 20,000-30,000 years. However, the sheer diversity of E-V38 in West Africa supports the earlier held position that the lineage has origins there.
The downstreams SNPs E-L576 and E-M180 both possibly originated on the moist south-central Sahara
Sahara
The Sahara is the world's second largest desert, after Antarctica. At over , it covers most of Northern Africa, making it almost as large as Europe or the United States. The Sahara stretches from the Red Sea, including parts of the Mediterranean coasts, to the outskirts of the Atlantic Ocean...
n savannah/grassland of northern West Africa during the early Holocene
Holocene climatic optimum
The Holocene Climate Optimum was a warm period during roughly the interval 9,000 to 5,000 years B.P.. This event has also been known by many other names, including: Hypsithermal, Altithermal, Climatic Optimum, Holocene Optimum, Holocene Thermal Maximum, and Holocene Megathermal.This warm period...
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
Southeastern Nigeria
Southeastern Nigeria consists of present Abia State, Akwa Ibom State, Anambra State, Bayelsa State, Cross River State, Ebonyi State, Enugu State, Imo State, and Rivers State of Nigeria.-"Precolonial" era:...
and Cameroon
Cameroon
Cameroon, officially the Republic of Cameroon , is a country in west Central Africa. It is bordered by Nigeria to the west; Chad to the northeast; the Central African Republic to the east; and Equatorial Guinea, Gabon, and the Republic of the Congo to the south. Cameroon's coastline lies on the...
~8.0 kya to Central Africa, East Africa, and Southern Africa
Southern Africa
Southern Africa is the southernmost region of the African continent, variably defined by geography or geopolitics. Within the region are numerous territories, including the Republic of South Africa ; nowadays, the simpler term South Africa is generally reserved for the country in English.-UN...
causing or following the Bantu expansion
Bantu expansion
The Bantu expansion or the Bantu Migration was a millennia-long series of migrations of speakers of the original proto-Bantu language group...
. 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
Haplogroup A (Y-DNA)
In human genetics, Haplogroup A refers to a group of y-chromosome lineages that were among the first to branch off from the root of the human y-chromosome phylogeny...
, A1b, A2, A3, and B-M60
Haplogroup B (Y-DNA)
In human genetics, Haplogroup B is a Y-chromosome haplogroup.-Distribution:Haplogroup B is localized to sub-Saharan Africa, especially to tropical forests of West-Central Africa. After Y-haplogroup A, it is the second oldest and one of the most diverse human Y-haplogroups...
that are common in certain populations, such as the Mbuti
Mbuti
Mbuti or Bambuti are one of several indigenous pygmy groups in the Congo region of Africa. Their languages belong to the Central Sudanic and also to Bantu languages.-Overview:...
and Khoisan
Khoisan
Khoisan is a unifying name for two ethnic groups of Southern Africa, who share physical and putative linguistic characteristics distinct from the Bantu majority of the region. Culturally, the Khoisan are divided into the foraging San and the pastoral Khoi...
.
Distribution
E1b1a reaches frequencies of over 80% in many parts of West Africa, Central Africa, East Africa as well as Southern Africa. 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.| Population group | frequency | References |
|---|---|---|
| Bamileke Bamileke The Bamileke is a folk whose native ancestral area is in the western highlands of Cameroon's West Province, west of the Noun River and southeast of the Bamboutos Mountains and in the Moungo region of the Littoral, Southwest, and Centre Provinces. They are a part of the Semi-Bantu ethnic groups... |
96%-100% | |
| Ewe Ewe people The Ewe are a people located in the southeast corner of Ghana, east of the Volta River, in an area now described as the Volta Region, in southern Togo and western Benin... |
97% | |
| Ga Ga people The Ga-Adangbe are an ethnic group in the West African nation of Ghana. It is part of the Dangme ethnic group. The Ga people are grouped as part of theGa–Dangme ethnolinguistic group. They speak Kwa languages... |
97% | |
| Yoruba Yoruba people The Yoruba people are one of the largest ethnic groups in West Africa. The majority of the Yoruba speak the Yoruba language... |
93.1% | |
| Tutsi Tutsi The Tutsi , or Abatutsi, are an ethnic group in Central Africa. Historically they were often referred to as the Watussi or Watusi. They are the second largest caste in Rwanda and Burundi, the other two being the Hutu and the Twa .... |
85% | |
| Fante | 84% | |
| Mandinka Mandinka people The Mandinka, Malinke are one of the largest ethnic groups in West Africa with an estimated population of eleven million .... |
79%-87% | |
| Ovambo | 82% | |
| Senegal Senegal Senegal , officially the Republic of Senegal , is a country in western Africa. It owes its name to the Sénégal River that borders it to the east and north... ese |
81% | |
| Ganda | 77% | |
| Bijagós Bijago language Bijago, or Bidyogo, is the language of the Bissagos Archipelago of Guinea-Bissau. There are some difficulties of grammar and intelligibility between dialects, with the Kamona dialect of Caravela and Carache Islands being unintelligible to the others.... |
76% | |
| Balanta Balanta people The Balanta , meaning literally "those who resist", are an ethnic group found in Guinea-Bissau, Senegal, and Gambia. They are the largest ethnic group of Guinea-Bissau, representing more than one-quarter of the population... |
73% | |
| Fula Fula people Fula people or Fulani or Fulbe are an ethnic group spread over many countries, predominantly in West Africa, but found also in Central Africa and Sudanese North Africa... |
73% | |
| Herero | 71% | |
| Nalú | 71% |
Populations on the northern fringes of West Africa, central Eastern Africa and Madagascar
Madagascar
The Republic of Madagascar is an island country located in the Indian Ocean off the southeastern coast of Africa...
have tested at more moderate frequencies.
| Population group | frequency | References |
|---|---|---|
| Tuareg from Tânout Tanout Tanout is a town in southern Niger. It is in Zinder Region, Tanout Department, north of the city of Zinder. It is the administrative capital of Tanout Department.... , Niger |
44.4% (8/18 subjects) | |
| Tuareg from Gorom Gorom-Gorom Gorom-Gorom is a town in northern Burkina Faso. Its name means you sit down, we'll sit down, reminding of its role as an important crossroads in the Sahel. It is the capital of Oudalan Province.... , Burkina Faso |
16.6% (3/18) | |
| Tuareg from Gossi Gossi Gossi is a town and commune of the Cercle of Gourma-Rharous in the Tombouctou Region of Mali, lying north east of Hombori and south west of Gao. It lies on the Mare de Gossi lake and is surrounded by nature reserves in which a large herd of elephants live. The town is the site of a large cattle... , Mali |
9.1% (1/9) | |
| Cape Verdeans | 15.9% (32/201) | |
| Maasai | 15.4% (4/26) | |
| Luo Luo (Kenya and Tanzania) The Luo are an ethnic group in Kenya, eastern Uganda, and northern Tanzania. They are part of a larger group of ethnolinguistically related Luo peoples who inhabit an area including southern Sudan, northern and eastern Uganda, western Kenya, and northern Tanzania.The Luo are the third largest... |
66% (6/9) | |
| Iraqw | 11.11% (1/9) | |
| Comoros Comoros The Comoros , officially the Union of the Comoros is an archipelago island nation in the Indian Ocean, located off the eastern coast of Africa, on the northern end of the Mozambique Channel, between northeastern Mozambique and northwestern Madagascar... |
23.46% (69/294) | |
| Merina people (also called Highlanders) | 44% (4/9) | |
| Antandroy Antandroy The Antandroy are a traditionally nomadic ethnic group of Madagascar inhabiting the arid southern part of the island called Androy roughly located between Amboasary and Beloha and between the ocean and Bekily. Their name means "people of the thorns" in reference to the spiny thickets of endemic... |
69.6% (32/46) | |
| Antanosy Antanosy people The Antanosy are a Malagasy ethnic group who primarily live in the Anosy region of southeastern Madagascar, though there are also Antanosy living near Bezaha, where some of the Antanosy moved after the Imerina conquered Anosy... |
48.9% (23/47) | |
| Antaisaka Antaisaka people Antaisaka are an ethnic group of Madagascar living on the south-eastern coast.The Antaisaka speak a dialect of the Malagasy language, which is a branch of the Malayo-polynesian language group derived from the Barito languages, spoken in southern Borneo.... |
37.5% (3/8) |
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. The E-M2 marker that appeared in North African samples may stem from recent acquisitions. 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).
| Population group | frequency | References |
|---|---|---|
| Tuareg from Al Awaynat Al Awaynat Awaynat is a small town located in the Sahara Desert in Libya. It lies at the entrance of the Djebel Al Akakus.... and Tahala, Libya |
46.5% (20/43) All were positive for U175. | |
| Oran Oran Province Oran is a province in Algeria whose seat is the city of the same name.-Geography:It is located in the northwestern part of the country. Its population is 1,584,607 and it covers a total area of 2,114 km²... , Algeria Algeria Algeria , officially the People's Democratic Republic of Algeria , also formally referred to as the Democratic and Popular Republic of Algeria, is a country in the Maghreb region of Northwest Africa with Algiers as its capital.In terms of land area, it is the largest country in Africa and the Arab... |
8.6% (8/93) | |
| Berbers Berber people Berbers are the indigenous peoples of North Africa west of the Nile Valley. They are continuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke the Berber language or varieties of it, which together form a branch... , southern and north-central Morocco |
9.5% (6/63) | The publication refers to E1b1a as H22. |
| Morrocan Arabs | 6.8% (3/44) | |
| Saharawis | 3.5% (1/29) | |
| Egyptians Egyptians Egyptians are nation an ethnic group made up of Mediterranean North Africans, the indigenous people of Egypt.Egyptian identity is closely tied to geography. The population of Egypt is concentrated in the lower Nile Valley, the small strip of cultivable land stretching from the First Cataract to... |
8.33% (3/36), 1.4% (2/147), and (0/73) | |
| Tunisia Tunisia Tunisia , officially the Tunisian RepublicThe long name of Tunisia in other languages used in the country is: , is the northernmost country in Africa. It is a Maghreb country and is bordered by Algeria to the west, Libya to the southeast, and the Mediterranean Sea to the north and east. Its area... ns |
1.4% (2/148) | |
| Sudanese Hausa Hausa people The Hausa are one of the largest ethnic groups in West Africa. They are a Sahelian people chiefly located in northern Nigeria and southeastern Niger, but having significant numbers living in regions of Cameroon, Ghana, Cote d'Ivoire, Chad and Sudan... |
12.5% (4/32) | |
| Somalis Somali people Somalis are an ethnic group located in the Horn of Africa, also known as the Somali Peninsula. The overwhelming majority of Somalis speak the Somali language, which is part of the Cushitic branch of the Afro-Asiatic language family... |
1.5% (3/201) | |
| Ethiopia Ethiopia Ethiopia , officially known as the Federal Democratic Republic of Ethiopia, is a country located in the Horn of Africa. It is the second-most populous nation in Africa, with over 82 million inhabitants, and the tenth-largest by area, occupying 1,100,000 km2... ns |
3.4% (3/88) | |
| Oromo Oromo people The Oromo are an ethnic group found in Ethiopia, northern Kenya, .and parts of Somalia. With 30 million members, they constitute the single largest ethnic group in Ethiopia and approximately 34.49% of the population according to the 2007 census... |
2.6% (2/78) | |
| Amhara Amhara people Amhara are a highland people inhabiting the Northwestern highlands of Ethiopia. Numbering about 19.8 million people, they comprise 26% of the country's population, according to the 2007 national census... |
10.4% (5/48)Five of the 48 Amhara tested positive for P2 but were negative for M215 and M2. They were not tested for V38 or L222 but are presumed positive. |
Outside of Africa, E1b1a has been found at low frequencies. In Eurasia
Eurasia
Eurasia is a continent or supercontinent comprising the traditional continents of Europe and Asia ; covering about 52,990,000 km2 or about 10.6% of the Earth's surface located primarily in the eastern and northern hemispheres...
, the clade has primarily been found in West Asia. There have also been reported a few isolated incidents of E1b1a in Southern Europe
Southern Europe
The term Southern Europe, at its most general definition, is used to mean "all countries in the south of Europe". However, the concept, at different times, has had different meanings, providing additional political, linguistic and cultural context to the definition in addition to the typical...
an populations in Malta
Malta
Malta , officially known as the Republic of Malta , is a Southern European country consisting of an archipelago situated in the centre of the Mediterranean, south of Sicily, east of Tunisia and north of Libya, with Gibraltar to the west and Alexandria to the east.Malta covers just over in...
, Spain
Spain
Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula...
and Portugal
Portugal
Portugal , officially the Portuguese Republic is a country situated in southwestern Europe on the Iberian Peninsula. Portugal is the westernmost country of Europe, and is bordered by the Atlantic Ocean to the West and South and by Spain to the North and East. The Atlantic archipelagos of the...
. There have also been isolated incidences in Austria
Austria
Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the...
and Germany
Germany
Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
.
| Population group | frequency | References |
|---|---|---|
| Saudi Arabia Saudi Arabia The Kingdom of Saudi Arabia , commonly known in British English as Saudi Arabia and in Arabic as as-Sa‘ūdiyyah , is the largest state in Western Asia by land area, constituting the bulk of the Arabian Peninsula, and the second-largest in the Arab World... ns |
7.6% (12/157) | |
| Oman Oman Oman , officially called the Sultanate of Oman , is an Arab state in southwest Asia on the southeast coast of the Arabian Peninsula. It is bordered by the United Arab Emirates to the northwest, Saudi Arabia to the west, and Yemen to the southwest. The coast is formed by the Arabian Sea on the... is |
6.6% (8/121) | |
| Emiratis United Arab Emirates The United Arab Emirates, abbreviated as the UAE, or shortened to "the Emirates", is a state situated in the southeast of the Arabian Peninsula in Western Asia on the Persian Gulf, bordering Oman, and Saudi Arabia, and sharing sea borders with Iraq, Kuwait, Bahrain, Qatar, and Iran.The UAE is a... |
5.5% (9/164) | |
| Yemen Yemen The Republic of Yemen , commonly known as Yemen , is a country located in the Middle East, occupying the southwestern to southern end of the Arabian Peninsula. It is bordered by Saudi Arabia to the north, the Red Sea to the west, and Oman to the east.... is |
4.8% (3/62) | |
| Majorcans | 3.2% (2/62) | |
| Qatar Qatar Qatar , also known as the State of Qatar or locally Dawlat Qaṭar, is a sovereign Arab state, located in the Middle East, occupying the small Qatar Peninsula on the northeasterly coast of the much larger Arabian Peninsula. Its sole land border is with Saudi Arabia to the south, with the rest of its... is |
4.2% (3/72) | |
| Southern Iran Iran Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia... ans |
1.7% (2/117) | |
| Iraqis Iraqi people The Iraqi people or Mesopotamian people are natives or inhabitants of the country of Iraq, known since antiquity as Mesopotamia , with a large diaspora throughout the Arab World, Europe, the Americas, and... |
1.4% (2/139) | |
| Pakistan Pakistan Pakistan , officially the Islamic Republic of Pakistan is a sovereign state in South Asia. It has a coastline along the Arabian Sea and the Gulf of Oman in the south and is bordered by Afghanistan and Iran in the west, India in the east and China in the far northeast. In the north, Tajikistan... is |
1.4% (9/638) | |
| Istanbul Istanbul Istanbul , historically known as Byzantium and Constantinople , is the largest city of Turkey. Istanbul metropolitan province had 13.26 million people living in it as of December, 2010, which is 18% of Turkey's population and the 3rd largest metropolitan area in Europe after London and... , Turkey |
1.2% (1/81) |
The Trans-Atlantic slave trade
Atlantic slave trade
The Atlantic slave trade, also known as the trans-atlantic slave trade, refers to the trade in slaves that took place across the Atlantic ocean from the sixteenth through to the nineteenth centuries...
brought a significant number of men from West and Central Africa to the Americas. Consequently, the haplogroup is often observed in the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
in men who self-identify as African American
African American
African Americans are citizens or residents of the United States who have at least partial ancestry from any of the native populations of Sub-Saharan Africa and are the direct descendants of enslaved Africans within the boundaries of the present United States...
s. It has also been observed in a number of populations in Mexico
Mexico
The United Mexican States , commonly known as Mexico , is a federal constitutional republic in North America. It is bordered on the north by the United States; on the south and west by the Pacific Ocean; on the southeast by Guatemala, Belize, and the Caribbean Sea; and on the east by the Gulf of...
, the Caribbean
Caribbean
The Caribbean is a crescent-shaped group of islands more than 2,000 miles long separating the Gulf of Mexico and the Caribbean Sea, to the west and south, from the Atlantic Ocean, to the east and north...
, Central America
Central America
Central America is the central geographic region of the Americas. It is the southernmost, isthmian portion of the North American continent, which connects with South America on the southeast. When considered part of the unified continental model, it is considered a subcontinent...
, and South America
South America
South America is a continent situated in the Western Hemisphere, mostly in the Southern Hemisphere, with a relatively small portion in the Northern Hemisphere. The continent is also considered a subcontinent of the Americas. It is bordered on the west by the Pacific Ocean and on the north and east...
.
| Population group | frequency | References |
|---|---|---|
| African American African American African Americans are citizens or residents of the United States who have at least partial ancestry from any of the native populations of Sub-Saharan Africa and are the direct descendants of enslaved Africans within the boundaries of the present United States... s, US |
58%-60% E1b1a is approximately 7.7-7.9% of total US male population. | |
| Nicaraguans | 5.5% (9/165) | |
| Cubans Cubans Cubans or Cuban people are the inhabitants or citizens of Cuba. Cuba is a multi-ethnic nation, home to people of different ethnic and national backgrounds... |
9.8% (13/132) | |
| Several populations of Colombians Colombian people Colombian people are from a multiethnic Spanish speaking nation in South America called Colombia. Colombians are predominantly Roman Catholic and are a mixture of Europeans, Africans, and Amerindians.-Demography:... |
6.18% (69/1116) | |
| Alagoas Alagoas Alagoas is one of the 27 federative units of Brazil and is situated in the eastern part of the Northeast Region. It borders: Pernambuco ; Sergipe ; Bahia ; and the Atlantic Ocean . It occupies an area of 27,767 km², being slightly larger than Haiti... , Brazil |
4.45% (11/247) | |
| Bahia Bahia Bahia is one of the 26 states of Brazil, and is located in the northeastern part of the country on the Atlantic coast. It is the fourth most populous Brazilian state after São Paulo, Minas Gerais and Rio de Janeiro, and the fifth-largest in size... , Brazil |
19% (19/100) |
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-RimaïbéSinga-Rimaïbé
Singa-Rimaïbé is a town in the Zimtenga Department of Bam Province in northern-central Burkina Faso. It has a population of 1158....
, Burkina Faso
Burkina Faso
Burkina Faso – also known by its short-form name Burkina – is a landlocked country in west Africa. It is surrounded by six countries: Mali to the north, Niger to the east, Benin to the southeast, Togo and Ghana to the south, and Côte d'Ivoire to the southwest.Its size is with an estimated...
tested positive for E-M58. 15% (10/69) of Hutus in Rwanda
Rwanda
Rwanda or , officially the Republic of Rwanda , is a country in central and eastern Africa with a population of approximately 11.4 million . Rwanda is located a few degrees south of the Equator, and is bordered by Uganda, Tanzania, Burundi and the Democratic Republic of the Congo...
tested positive for M58. Three South Africans tested positive for this marker. One Carioca
Carioca
Carioca is a Portuguese adjective or demonym that is used to refer to the native inhabitants of the city of Rio de Janeiro - capital of the homonym state , in Brazil...
from Rio de Janeiro
Rio de Janeiro
Rio de Janeiro , commonly referred to simply as Rio, is the capital city of the State of Rio de Janeiro, the second largest city of Brazil, and the third largest metropolitan area and agglomeration in South America, boasting approximately 6.3 million people within the city proper, making it the 6th...
, Brazil
Brazil
Brazil , officially the Federative Republic of Brazil , is the largest country in South America. It is the world's fifth largest country, both by geographical area and by population with over 192 million people...
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 MaliMali
Mali , officially the Republic of Mali , is a landlocked country in Western Africa. Mali borders Algeria on the north, Niger on the east, Burkina Faso and the Côte d'Ivoire on the south, Guinea on the south-west, and Senegal and Mauritania on the west. Its size is just over 1,240,000 km² with...
.
The publication transposes M116.2 with M116.1 in Table 1.
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 RepublicCentral African Republic
The Central African Republic , is a landlocked country in Central Africa. It borders Chad in the north, Sudan in the north east, South Sudan in the east, the Democratic Republic of the Congo and the Republic of the Congo in the south, and Cameroon in the west. The CAR covers a land area of about ,...
and two members in a "Mixed" population from the Adamawa region.
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 YCCY chromosome consortium
The Y Chromosome Consortium is a collection of scientists who work toward the understanding of human Y chromosomal phylogenetics and evolution. The consortium has the following objectives: web resources that communicate information relating to the non-recombinant region of the Y-chromosome...
.
- E1b1a1a1f1 is defined by marker L514. This SNP is currently without population study data.
- 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 GurGur languagesThe Gur languages, also known as Central Gur, belong to the Niger–Congo languages. There are about 70 languages belonging to this group. They are spoken in Burkina Faso, southern Mali, northeastern Côte d'Ivoire, northern Ghana, northern Togo, northwestern Benin, and southwestern Niger.Like most...
speakers in Burkina Faso. Montano et al. (2011) found similar sparse distribution of E-M191* in NigeriaNigeriaNigeria , officially the Federal Republic of Nigeria, is a federal constitutional republic comprising 36 states and its Federal Capital Territory, Abuja. The country is located in West Africa and shares land borders with the Republic of Benin in the west, Chad and Cameroon in the east, and Niger in...
, GabonGabonGabon , officially the Gabonese Republic is a state in west central Africa sharing borders with Equatorial Guinea to the northwest, Cameroon to the north, and with the Republic of the Congo curving around the east and south. The Gulf of Guinea, an arm of the Atlantic Ocean is to the west...
, Cameroon and Congo. M191/P86 positive samples occurred in tested populations of AnnangAnnangThe Annang is a cultural and ethnic group that lives in the Coastal Southeast Nigeria...
(38.3%), IbibioIbibio peopleThe Ibibio are a people of southeastern Nigeria. They are related to the Anaang and the Efik peoples. During colonial period in Nigeria, the Ibibio Union asked for recognition by the British as a sovereign nation . The Annang, Efik, Ekid, Oron and Ibeno share personal names, culture, and traditions...
(45.6%), Efik (45%), and IgboIgbo peopleIgbo people, also referred to as the Ibo, Ebo, Eboans or Heebo are an ethnic group living chiefly in southeastern Nigeria. They speak Igbo, which includes various Igboid languages and dialects; today, a majority of them speak English alongside Igbo as a result of British colonialism...
(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-SanKhoe languagesThe Khoe languages are the largest of the non-Bantu language families indigenous to southern Africa. They are often considered to be a branch of a suspected Khoisan language family, and are known as Central Khoisan in that scenario. The nearest relative of the Khoe family is the extinct and poorly...
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 (12/130) positive. 34.9% (29/83) of AmericanUnited StatesThe United States of America is a federal constitutional republic comprising fifty states and a federal district...
Haplogroup E 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 SenegalSenegalSenegal , officially the Republic of Senegal , is a country in western Africa. It owes its name to the Sénégal River that borders it to the east and north...
. 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 [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."
- 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 BassaBassa (Cameroon)The Bassa are an ethnic group in Cameroon. These people, numbering approximately 230,000, are Bantu. Their language is the Basaa language.-History:...
population from Cameroon.
- 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 23andme23andMe23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California that is developing new methods and technologies that will enable consumers to understand their own genetic information...
.
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 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 languages
The Niger–Congo languages constitute one of the world's major language families, and Africa's largest in terms of geographical area, number of speakers, and number of distinct languages. They may constitute the world's largest language family in terms of distinct languages, although this question...
speaking peoples as far west as Guinea-Bissau
Guinea-Bissau
The Republic of Guinea-Bissau is a country in West Africa. It is bordered by Senegal to the north, and Guinea to the south and east, with the Atlantic Ocean to its west....
". This is the modal haplotype of STR markers that is common in carriers of E-U175.The YCAII STR marker value of 19-19 is also usually indicative of U175.
| 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 indicting 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) 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 poulation frequency rate in that study was 57.7% (13/26) in Ewondo in Cameroon. 32.5% (27/83) of American Haplogroup E men tested by Sims et al. (2007) were positive for this SNP.
- E1b1a1a1g1c (YCC E1b1a4) is defined by M154. A Bamilike population tested 31.3% (15/48) for the marker. Bakaka speakers from Cameroon tested 8%. 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.E1b1a2
E1b1a2 is defined by the SNPSingle nucleotide polymorphism
A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome differs between members of a biological species or paired chromosomes in an individual...
mutation M329.It was formerly known as E1b1c. The majority of the few cases so far observed have been found in East Africa. Semino et al. (2004) found 2 Ethiopian Oromo
Oromo people
The Oromo are an ethnic group found in Ethiopia, northern Kenya, .and parts of Somalia. With 30 million members, they constitute the single largest ethnic group in Ethiopia and approximately 34.49% of the population according to the 2007 census...
in a study of >2400 individuals, including 78 Oromo. Cadenas et al. (2007) found 1 case in Qatar
Qatar
Qatar , also known as the State of Qatar or locally Dawlat Qaṭar, is a sovereign Arab state, located in the Middle East, occupying the small Qatar Peninsula on the northeasterly coast of the much larger Arabian Peninsula. Its sole land border is with Saudi Arabia to the south, with the rest of its...
, out of 72 people tested there in that study.
Tree
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.- 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) 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 PAGES00066. 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 within E1b1a1b (M116.2), E1b1a1c (M149), and E1b1a1d (M155)
remains uncertain.
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- 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)
- (L372)
- E1b1a1a1f1a1 (P252/U174)
- E1b1a1a1f1b (L515, L516, L517, M263.2)
- E1b1a1a1f1b1 (Z1893)
- (Z1894)
- E1b1a1a1f1b1 (Z1893)
- E1b1a1a1f1a (M191/P86, P253/U247, U186, Z1712, rs9786041)
- E1b1a1a1f1 (L514)
- E1b1a1a1g (U175)
- E1b1a1a1g1 (L220.3, L652, P277, P278.1, U209, rs7067329, rs7474403, rs7893016)
- E1b1a1a1g1a (U290)
- E1b1a1a1g1a1 (U181)
- E1b1a1a1g1a1a (L97)
- (L649, L650, L651)
- E1b1a1a1g1a1 (U181)
- E1b1a1a1g1b (P59)
- E1b1a1a1g1c (M154)
- E1b1a1a1g1d (V39)
- (L609, L611)
- E1b1a1a1g1a (U290)
- E1b1a1a1g1 (L220.3, L652, P277, P278.1, U209, rs7067329, rs7474403, rs7893016)
- E1b1a1a1h (P268, P269)
- E1b1a1a1 (L86.1, L88.3, M180/P88, PAGES00066, P182, Z1111, Z1112)
- E1b1a1a (L576)
- E1b1a2 (M329)
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External links
- Haplogroup E1b1a FTDNA Project
- http://wysinger.homestead.com/keita6.pdf
- Distribution of E1b1a/E3a in Africa
- Spread of Haplogroup E3a, from National Geographic