Haplogroup E-M2 (or E1b1a) is a
human Y-chromosome DNA haplogroup
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non- recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of sh ...
. It is primarily distributed in sub-Saharan Africa. E-M2 is the predominant subclade in
West
West or Occident is one of the four cardinal directions or points of the compass. It is the opposite direction from east and is the direction in which the Sunset, Sun sets on the Earth.
Etymology
The word "west" is a Germanic languages, German ...
-
Central Africa
Central Africa is a subregion of the African continent comprising various countries according to different definitions. Angola, Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, the Republic of the Congo, ...
,
Southern Africa
Southern Africa is the southernmost subregion of the African continent, south of the Congo and Tanzania. The physical location is the large part of Africa to the south of the extensive Congo River basin. Southern Africa is home to a number of ...
and the
African Great Lakes
The African Great Lakes ( sw, Maziwa Makuu; rw, Ibiyaga bigari) are a series of lakes constituting the part of the Rift Valley lakes in and around the East African Rift. They include Lake Victoria, the second-largest fresh water lake in the ...
, and occurs at moderate frequencies in
North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
and
Middle East
The Middle East ( ar, الشرق الأوسط, ISO 233: ) is a geopolitical region commonly encompassing Arabian Peninsula, Arabia (including the Arabian Peninsula and Bahrain), Anatolia, Asia Minor (Asian part of Turkey except Hatay Pro ...
. E-M2 has several subclades, but many of these subhaplogroups are included in either E-L485 or E-U175. E-M2 is especially common in native
Africa
Africa is the world's second-largest and second-most populous continent, after Asia in both cases. At about 30.3 million km2 (11.7 million square miles) including adjacent islands, it covers 6% of Earth's total surface area ...
ns speaking
Niger-Congo languages and was spread to Southern and Eastern Africa through the
Bantu expansion
The Bantu expansion is a hypothesis about the history of the major series of migrations of the original Proto-Bantu-speaking group, which spread from an original nucleus around Central Africa across much of sub-Saharan Africa. In the process, t ...
.
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 northern East African-affiliated E-M329 with an earlier common ancestor who, like E-P2, may have also originated in
East Africa
East Africa, Eastern Africa, or East of Africa, is the eastern subregion of the African continent. In the United Nations Statistics Division scheme of geographic regions, 10-11-(16*) territories make up Eastern Africa:
Due to the historical ...
.
The downstreams SNP E-M180 possibly originated on the moist south-central
Sahara
, photo = Sahara real color.jpg
, photo_caption = The Sahara taken by Apollo 17 astronauts, 1972
, map =
, map_image =
, location =
, country =
, country1 =
, ...
n savannah/grassland of northern Africa between 14,000–10,000 years 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 southern East Africa, replacing the previous
haplogroup
A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the el, ἁπλοῦς, ''haploûs'', "onefold, simple" and en, group) is a group of similar haplotypes that share ...
s 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
State Road A1A (SR A1A) is a major north–south Florida State Road that runs along the Atlantic Ocean, from Key West at the southern tip of Florida, to Fernandina Beach, just south of Georgia on Amelia Island. It is the main road throug ...
, A1b, A2, A3, and
B-M60 that are common in certain populations, such as the
Mbuti
The Mbuti people, or Bambuti, are one of several indigenous pygmy groups in the Congo region of Africa. Their languages are Central Sudanic languages and Bantu languages.
Subgroups
Bambuti are pygmy hunter-gatherers, and are one of the oldest ...
and
Khoisan
Khoisan , or (), according to the contemporary Khoekhoegowab orthography, is a catch-all term for those indigenous peoples of Southern Africa who do not speak one of the Bantu languages, combining the (formerly "Khoikhoi") and the or ( in t ...
.
Ancient DNA
Within Africa
Botswana
At Taukome, in
Botswana
Botswana (, ), officially the Republic of Botswana ( tn, Lefatshe la Botswana, label=Setswana, ), is a landlocked country in Southern Africa. Botswana is topographically flat, with approximately 70 percent of its territory being the Kalahar ...
, an individual, dated to the Early
Iron Age
The Iron Age is the final epoch of the three-age division of the prehistory and protohistory of humanity. It was preceded by the Stone Age (Paleolithic, Mesolithic, Neolithic) and the Bronze Age (Chalcolithic). The concept has been mostly appl ...
(1100 BP), carried haplogroups
E1b1a1 (E-M2, E-Z1123) and
L0d3b1.
At Xaro, in
Botswana
Botswana (, ), officially the Republic of Botswana ( tn, Lefatshe la Botswana, label=Setswana, ), is a landlocked country in Southern Africa. Botswana is topographically flat, with approximately 70 percent of its territory being the Kalahar ...
, there were two individuals, dated to the Early
Iron Age
The Iron Age is the final epoch of the three-age division of the prehistory and protohistory of humanity. It was preceded by the Stone Age (Paleolithic, Mesolithic, Neolithic) and the Bronze Age (Chalcolithic). The concept has been mostly appl ...
(1400 BP); one carried haplogroups
E1b1a1a1c1a and
L3e1a2, and another carried haplogroups
E1b1b1b2b (E-M293, E-CTS10880) and
L0k1a2.
Democratic Republic of Congo
At Kindoki, in the
Democratic Republic of Congo
The Democratic Republic of the Congo (french: République démocratique du Congo (RDC), colloquially "La RDC" ), informally Congo-Kinshasa, DR Congo, the DRC, the DROC, or the Congo, and formerly and also colloquially Zaire, is a country in ...
, there were three individuals, dated to the
protohistoric
Protohistory is a period between prehistory and history during which a culture or civilization has not yet developed writing, but other cultures have already noted the existence of those pre-literate groups in their own writings. For example, in ...
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 mummy of an unknown man buried with Ramesses 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
Usermaatre Meryamun Ramesses III (also written Ramses and Rameses) was the second Pharaoh of the Twentieth Dynasty in Ancient Egypt. He is thought to have reigned from 26 March 1186 to 15 April 1155 BC and is considered to be the last great monar ...
and Unknown Man E, possibly
Pentawere, carried
haplogroup E1b1a
Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Sub Saharan Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E3a & E1b1a). The E-M329 subclade is today almost excl ...
.
Kenya
At Deloraine Farm, in
Nakuru County, Kenya
Nakuru County Council is a defunct local authority in Kenya. It was one of the largest county councils in the country. It is home to a population of around 1.6 million, living on some 5,000 square kilometres in the central part of the country. The ...
, an iron metallurgist of the
Iron Age
The Iron Age is the final epoch of the three-age division of the prehistory and protohistory of humanity. It was preceded by the Stone Age (Paleolithic, Mesolithic, Neolithic) and the Bronze Age (Chalcolithic). The concept has been mostly appl ...
carried haplogroups
E1b1a1a1a1a/E-M58 and
L5b1.
Outside of Africa
Mexico
At a San Jose de los Naturales Royal Hospital burial site, in
Mexico City, Mexico
Mexico City ( es, link=no, Ciudad de México, ; abbr.: CDMX; Nahuatl: ''Altepetl Mexico'') is the capital and largest city of Mexico, and the most populous city in North America. One of the world's alpha cities, it is located in the Valley of Mex ...
, three
enslaved West Africans of
West African
West Africa or Western Africa is the westernmost region of Africa. The United Nations defines Western Africa as the 16 countries of Benin, Burkina Faso, Cape Verde, The Gambia, Ghana, Guinea, Guinea-Bissau, Ivory Coast, Liberia, Mali, Ma ...
and
Southern African
Southern Africa is the southernmost subregion of the African continent, south of the Congo and Tanzania. The physical location is the large part of Africa to the south of the extensive Congo River basin. Southern Africa is home to a number of ...
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 or complex is a complex of genes on chromosome 6 in humans which encode cell-surface proteins responsible for the regulation of the immune system. The HLA system is also known as the human version of th ...
alleles further confirm that the individuals were of
Sub-Saharan Africa
Sub-Saharan Africa is, geographically, the area and regions of the continent of Africa that lies south of the Sahara. These include West Africa, East Africa, Central Africa, and Southern Africa. Geopolitically, in addition to the List of sov ...
n origin.
Portugal
At Cabeço da Amoreira, in
Portugal
Portugal, officially the Portuguese Republic ( pt, República Portuguesa, links=yes ), is a country whose mainland is located on the Iberian Peninsula of Southwestern Europe, and whose territory also includes the Atlantic archipelagos of ...
, an
enslaved West Africa
West Africa or Western Africa is the westernmost region of Africa. The United Nations defines Western Africa as the 16 countries of Benin, Burkina Faso, Cape Verde, The Gambia, Ghana, Guinea, Guinea-Bissau, Ivory Coast, Liberia, Mali, Maurit ...
n man, who may have been from the
Senegambian
The Senegambia (other names: Senegambia region or Senegambian zone,Barry, Boubacar, ''Senegambia and the Atlantic Slave Trade'', (Editors: David Anderson, Carolyn Brown; trans. Ayi Kwei Armah; contributors: David Anderson, American Council of Le ...
coastal region of
Gambia
The Gambia,, ff, Gammbi, ar, غامبيا officially the Republic of The Gambia, is a country in West Africa. It is the smallest country within mainland AfricaHoare, Ben. (2002) ''The Kingfisher A-Z Encyclopedia'', Kingfisher Publicatio ...
,
Mauritania
Mauritania (; ar, موريتانيا, ', french: Mauritanie; Berber: ''Agawej'' or ''Cengit''; Pulaar: ''Moritani''; Wolof: ''Gànnaar''; Soninke:), officially the Islamic Republic of Mauritania ( ar, الجمهورية الإسلامية ...
, or
Senegal
Senegal,; Wolof: ''Senegaal''; Pulaar: 𞤅𞤫𞤲𞤫𞤺𞤢𞥄𞤤𞤭 (Senegaali); Arabic: السنغال ''As-Sinighal'') officially the Republic of Senegal,; Wolof: ''Réewum Senegaal''; Pulaar : 𞤈𞤫𞤲𞤣𞤢𞥄𞤲𞤣𞤭 ...
, and carried haplogroups
E1b1a
Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Sub Saharan Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E3a & E1b1a). The E-M329 subclade is today almost excl ...
and
L3b1a, was buried among
shell middens
A midden (also kitchen midden or shell heap) is an old dump for domestic waste which may consist of animal bone, human excrement, botanical material, mollusc shells, potsherds, lithics (especially debitage), and other artifacts and ecofac ...
between the 16th century CE and the 18th century CE.
Spain
In
Granada
Granada (,, DIN 31635, DIN: ; grc, Ἐλιβύργη, Elibýrgē; la, Illiberis or . ) 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 fo ...
, a Muslim (
Moor
Moor or Moors may refer to:
Nature and ecology
* Moorland, a habitat characterized by low-growing vegetation and acidic soils.
Ethnic and religious groups
* Moors, Muslim inhabitants of the Maghreb, Iberian Peninsula, Sicily, and Malta during ...
) 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
Moriscos (, ; pt, mouriscos ; Spanish for "Moorish") were former Muslims and their descendants whom the Roman Catholic church and the Spanish Crown commanded to convert to Christianity or face compulsory exile after Spain outlawed the open p ...
,
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.
Medical DNA
Sickle Cell
Amid the
Green Sahara
The African humid period (AHP) (also known by other names) is a climate period in Africa during the late Pleistocene and Holocene geologic epochs, when northern Africa was wetter than today. The covering of much of the Sahara desert by grasses, ...
, the mutation for
sickle cell
Sickle cell disease (SCD) is a group of blood disorders typically Heredity, inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found i ...
originated in the
Sahara
, photo = Sahara real color.jpg
, photo_caption = The Sahara taken by Apollo 17 astronauts, 1972
, map =
, map_image =
, location =
, country =
, country1 =
, ...
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 (; french: Cameroun, ff, Kamerun), officially the Republic of Cameroon (french: République du Cameroun, links=no), is a country in west-central Africa. It is bordered by Nigeria to the west and north; Chad to the northeast; the C ...
/
Central African Republic
The Central African Republic (CAR; ; , RCA; , or , ) is a landlocked country in Central Africa. It is bordered by Chad to the north, Sudan to the northeast, South Sudan to the southeast, the DR Congo to the south, the Republic of th ...
and
Benin
Benin ( , ; french: Bénin , ff, Benen), officially the Republic of Benin (french: République du Bénin), and formerly Dahomey, is a country in West Africa. It is bordered by Togo to the west, Nigeria to the east, Burkina Faso to the north ...
/
Senegal
Senegal,; Wolof: ''Senegaal''; Pulaar: 𞤅𞤫𞤲𞤫𞤺𞤢𞥄𞤤𞤭 (Senegaali); Arabic: السنغال ''As-Sinighal'') officially the Republic of Senegal,; Wolof: ''Réewum Senegaal''; Pulaar : 𞤈𞤫𞤲𞤣𞤢𞥄𞤲𞤣𞤭 ...
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
The Yoruba people (, , ) are a West African ethnic group that mainly inhabit parts of Nigeria, Benin, and Togo. The areas of these countries primarily inhabited by Yoruba are often collectively referred to as Yorubaland. The Yoruba constitute ...
and
Esan of Nigeria), bearing the Benin sickle cell haplotype, may have migrated through the
northeastern region of Africa into the western region of
Arabia
The Arabian Peninsula, (; ar, شِبْهُ الْجَزِيرَةِ الْعَرَبِيَّة, , "Arabian Peninsula" or , , "Island of the Arabs") or Arabia, is a peninsula of Western Asia, situated northeast of Africa on the Arabian Plate. ...
.
West Africans (e.g.,
Mende of Sierra Leone), bearing the Senegal sickle cell haplotype,
may have migrated into
Mauritania
Mauritania (; ar, موريتانيا, ', french: Mauritanie; Berber: ''Agawej'' or ''Cengit''; Pulaar: ''Moritani''; Wolof: ''Gànnaar''; Soninke:), officially the Islamic Republic of Mauritania ( ar, الجمهورية الإسلامية ...
(77% modern rate of occurrence) and Senegal (100%); they may also have migrated across the Sahara, into
North Africa
North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, and from North Africa, into
Southern Europe
Southern Europe is the southern regions of Europe, region of Europe. It is also known as Mediterranean Europe, as its geography is essentially marked by the Mediterranean Sea. Definitions of Southern Europe include some or all of these countrie ...
,
Turkey
Turkey ( tr, Türkiye ), officially the Republic of Türkiye ( tr, Türkiye Cumhuriyeti, links=no ), is a list of transcontinental countries, transcontinental country located mainly on the Anatolia, Anatolian Peninsula in Western Asia, with ...
, and a region near northern
Iraq
Iraq,; ku, عێراق, translit=Êraq officially the Republic of Iraq, '; ku, کۆماری عێراق, translit=Komarî Êraq is a country in Western Asia. It is bordered by Turkey to Iraq–Turkey border, the north, Iran to Iran–Iraq ...
and southern Turkey.
Some may have migrated into and introduced the Senegal and Benin sickle cell haplotypes into
Basra
Basra ( ar, ٱلْبَصْرَة, al-Baṣrah) is an Iraqi city located on the Shatt al-Arab. It had an estimated population of 1.4 million in 2018. Basra is also Iraq's main port, although it does not have deep water access, which is hand ...
, Iraq, where both occur equally.
West Africans, bearing the Benin sickle cell haplotype, may have migrated into the northern region of Iraq (69.5%),
Jordan
Jordan ( ar, الأردن; tr. ' ), officially the Hashemite Kingdom of Jordan,; tr. ' is a country in Western Asia. It is situated at the crossroads of Asia, Africa, and Europe, within the Levant region, on the East Bank of the Jordan Rive ...
(80%),
Lebanon
Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to the north and east and Israel to the south, while Cyprus li ...
(73%),
Oman
Oman ( ; ar, عُمَان ' ), officially the Sultanate of Oman ( ar, سلْطنةُ عُمان ), is an Arabian country located in southwestern Asia. It is situated on the southeastern coast of the Arabian Peninsula, and spans the mouth of t ...
(52.1%), and
Egypt
Egypt ( ar, مصر , ), officially the Arab Republic of Egypt, is a transcontinental country spanning the northeast corner of Africa and southwest corner of Asia via a land bridge formed by the Sinai Peninsula. It is bordered by the Mediter ...
(80.8%).
Distribution
This haplogroup's frequency and diversity are highest in the West Africa region. 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 the continent.
Populations on the North West Africa, central Eastern Africa and
Madagascar
Madagascar (; mg, Madagasikara, ), officially the Republic of Madagascar ( mg, Repoblikan'i Madagasikara, links=no, ; french: République de Madagascar), is an island country in the Indian Ocean, approximately off the coast of East Africa ...
have tested at more moderate frequencies.
E-M2 is found at low to moderate frequencies in North Africa, and northern East 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 only 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
Western Asia, West Asia, or Southwest Asia, is the westernmost subregion of the larger geographical region of Asia, as defined by some academics, UN bodies and other institutions. It is almost entirely a part of the Middle East, and includes Ana ...
. A few isolated occurrences of E-M2 have also been observed among populations in Southern Europe
Southern Europe is the southern regions of Europe, region of Europe. It is also known as Mediterranean Europe, as its geography is essentially marked by the Mediterranean Sea. Definitions of Southern Europe include some or all of these countrie ...
, such as Croatia
, image_flag = Flag of Croatia.svg
, image_coat = Coat of arms of Croatia.svg
, anthem = "Lijepa naša domovino"("Our Beautiful Homeland")
, image_map =
, map_caption =
, capit ...
, Malta
Malta ( , , ), officially the Republic of Malta ( mt, Repubblika ta' Malta ), is an island country in the Mediterranean Sea. It consists of an archipelago, between Italy and Libya, and is often considered a part of Southern Europe. It lies ...
, Spain
, image_flag = Bandera de España.svg
, image_coat = Escudo de España (mazonado).svg
, national_motto = ''Plus ultra'' (Latin)(English: "Further Beyond")
, national_anthem = (English: "Royal March")
, i ...
and Portugal
Portugal, officially the Portuguese Republic ( pt, República Portuguesa, links=yes ), is a country whose mainland is located on the Iberian Peninsula of Southwestern Europe, and whose territory also includes the Atlantic archipelagos of ...
.
The Trans-Atlantic slave trade
The Atlantic slave trade, transatlantic slave trade, or Euro-American slave trade involved the transportation by slave traders of enslaved African people, mainly to the Americas. The slave trade regularly used the triangular trade route and i ...
brought people to North America
North America is a continent in the Northern Hemisphere and almost entirely within the Western Hemisphere. It is bordered to the north by the Arctic Ocean, to the east by the Atlantic Ocean, to the southeast by South America and the Car ...
, Central America
Central America ( es, América Central or ) is a subregion of the Americas. Its boundaries are defined as bordering the United States to the north, Colombia to the south, the Caribbean Sea to the east, and the Pacific Ocean to the west. ...
and South America
South America is a continent entirely in the Western Hemisphere and mostly in the Southern Hemisphere, with a relatively small portion in the Northern Hemisphere at the northern tip of the continent. It can also be described as the southe ...
including the Caribbean
The Caribbean (, ) ( es, El Caribe; french: la Caraïbe; ht, Karayib; nl, De Caraïben) is a region of the Americas that consists of the Caribbean Sea, its islands (some surrounded by the Caribbean Sea and some bordering both the Caribbean Se ...
. Consequently, the haplogroup is often observed in the United States
The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country primarily located in North America. It consists of 50 states, a federal district, five major unincorporated territorie ...
populations in men who self-identify as African American
African Americans (also referred to as Black Americans and Afro-Americans) are an ethnic group consisting of Americans with partial or total ancestry from sub-Saharan Africa. The term "African American" generally denotes descendants of ens ...
s. It has also been observed in a number of populations in Mexico
Mexico (Spanish: México), officially the United Mexican States, is a country in the southern portion of North America. It is bordered to the north by the United States; to the south and west by the Pacific Ocean; to the southeast by Guatema ...
, the Caribbean
The Caribbean (, ) ( es, El Caribe; french: la Caraïbe; ht, Karayib; nl, De Caraïben) is a region of the Americas that consists of the Caribbean Sea, its islands (some surrounded by the Caribbean Sea and some bordering both the Caribbean Se ...
, Central America
Central America ( es, América Central or ) is a subregion of the Americas. Its boundaries are defined as bordering the United States to the north, Colombia to the south, the Caribbean Sea to the east, and the Pacific Ocean to the west. ...
, and South America
South America is a continent entirely in the Western Hemisphere and mostly in the Southern Hemisphere, with a relatively small portion in the Northern Hemisphere at the northern tip of the continent. It can also be described as the southe ...
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 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 (, ; , ff, 𞤄𞤵𞤪𞤳𞤭𞤲𞤢 𞤊𞤢𞤧𞤮, italic=no) is a landlocked country in West Africa with an area of , bordered by Mali to the northwest, Niger to the northeast, Benin to the southeast, Togo and Ghana to the ...
tested positive for E-M58. 15% (10/69) of Hutus
The Hutu (), also known as the Abahutu, are a Bantu ethnic or social group which is native to the African Great Lakes region. They mainly live in Rwanda, Burundi and the eastern Democratic Republic of the Congo, where they form one of the prin ...
in Rwanda
Rwanda (; rw, u Rwanda ), officially the Republic of Rwanda, is a landlocked country in the Great Rift Valley of Central Africa, where the African Great Lakes region and Southeast Africa converge. Located a few degrees south of the Equator ...
tested positive for M58. Three South Africans tested positive for this marker. One Carioca
Carioca ( or ) is a demonym used to refer to anything related to the City of Rio de Janeiro, in Brazil. The original meaning of the term is controversial, maybe from Tupi language "''kari' oka''", meaning "white house" as the whitewashed stone ...
from Rio de Janeiro
Rio de Janeiro ( , , ; literally 'River of January'), or simply Rio, is the capital of the state of the same name, Brazil's third-most populous state, and the second-most populous city in Brazil, after São Paulo. Listed by the GaWC as a b ...
, Brazil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area ...
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
Mali (; ), officially the Republic of Mali,, , ff, 𞤈𞤫𞤲𞥆𞤣𞤢𞥄𞤲𞤣𞤭 𞤃𞤢𞥄𞤤𞤭, Renndaandi Maali, italics=no, ar, جمهورية مالي, Jumhūriyyāt Mālī is a landlocked country in West Africa. Mali ...
.[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 Republic
The Central African Republic (CAR; ; , RCA; , or , ) is a landlocked country in Central Africa. It is bordered by Chad to the north, Sudan to the northeast, South Sudan to the southeast, the DR Congo to the south, the Republic of th ...
and two members in a "Mixed" population from the Adamawa region
The Adamawa Region (french: Région de l'Adamaoua) is a constituent region of the Republic of Cameroon. It borders the Centre and East regions to the south, the Northwest and West regions to the southwest, Nigeria to the west, the Central Afr ...
.
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
The 1000 Genomes Project (abbreviated as 1KGP), launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one th ...
.
*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
Nigeria ( ), , ig, Naìjíríyà, yo, Nàìjíríà, pcm, Naijá , ff, Naajeeriya, kcg, Naijeriya officially the Federal Republic of Nigeria, is a country in West Africa. It is situated between the Sahel to the north and the Gulf o ...
, Gabon
Gabon (; ; snq, Ngabu), officially the Gabonese Republic (french: République gabonaise), is a country on the west coast of Central Africa. Located on the equator, it is bordered by Equatorial Guinea to the northwest, Cameroon to the north ...
, Cameroon and Congo. M191/P86 positive samples occurred in tested populations of Annang
The Anaang (also spelled Annang) are a sub-ethnic group of the larger Ibibio people, whose land is primarily within 8 of the present 31 local government areas in Akwa Ibom State: Abak, Essien Udim, Etim Ekpo, Ika, Ikot Ekpene, Obot Akara, Oruk ...
(38.3%), Ibibio Ibibio may refer to:
* Ibibio language
* Ibibio people
* Ibibio Sound Machine, an English electronic afro-funk band who sing in Ibibio
See also
* Ibiblio
ibiblio (formerly SunSITE.unc.edu and MetaLab.unc.edu) is a "collection of collections" ...
(45.6%), Efik (45%), and Igbo
Igbo may refer to:
* Igbo people, an ethnic group of Nigeria
* Igbo language, their language
* anything related to Igboland, a cultural region in Nigeria
See also
* Ibo (disambiguation)
* Igbo mythology
* Igbo music
* Igbo art
*
* Igbo-Ukwu, a ...
(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
Khoisan , or (), according to the contemporary Khoekhoegowab orthography, is a catch-all term for those indigenous peoples of Southern Africa who do not speak one of the Bantu languages, combining the (formerly "Khoikhoi") and the or ( in ...
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
African Americans (also referred to as Black Americans and Afro-Americans) are an ethnic group consisting of Americans with partial or total ancestry from sub-Saharan Africa. The term "African American" generally denotes descendants of ens ...
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,; Wolof: ''Senegaal''; Pulaar: 𞤅𞤫𞤲𞤫𞤺𞤢𞥄𞤤𞤭 (Senegaali); Arabic: السنغال ''As-Sinighal'') officially the Republic of Senegal,; Wolof: ''Réewum Senegaal''; Pulaar : 𞤈𞤫𞤲𞤣𞤢𞥄𞤲𞤣𞤭 ...
. 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
A fang is a long, pointed tooth. In mammals, a fang is a modified maxillary tooth, used for biting and tearing flesh. In snakes, it is a specialized tooth that is associated with a venom gland (see snake venom). Spiders also have external 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 a publicly held 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 sample t ...
.
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 of ...
speaking peoples as far west as Guinea-Bissau
Guinea-Bissau ( ; pt, Guiné-Bissau; ff, italic=no, 𞤘𞤭𞤲𞤫 𞤄𞤭𞤧𞤢𞥄𞤱𞤮, Gine-Bisaawo, script=Adlm; Mandinka: ''Gine-Bisawo''), officially the Republic of Guinea-Bissau ( pt, República da Guiné-Bissau, links=no ) ...
". 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.
*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, officially the Republic of Côte d'Ivoire, is a country on the southern coast of West Africa. Its capital is Yamoussoukro, in the centre of the country, while its largest city and economic centre is ...
) 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
The Bamileke are a Central African people who inhabit the Western High Plateau of Cameroon.
Languages
The Bamileke languages belong to the Grassfields branch of the Niger-Congo language family, which is sometimes labeled as a " Bantuoid lan ...
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 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 percent of the ...
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,, ff, Gammbi, ar, غامبيا officially the Republic of The Gambia, is a country in West Africa. It is the smallest country within mainland AfricaHoare, Ben. (2002) ''The Kingfisher A-Z Encyclopedia'', Kingfisher Publicatio ...
.
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.
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.
**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 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.]
*** 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
* Proto-Niger–Congo
Genetics
Y-DNA E subclades
Notes
References
Sources for conversion tables
*
*
*
*
*
*
*
*
External links
Haplogroup E1b1a FTDNA Project
Distribution of E1b1a/E3a in Africa
from ''National Geographic
''National Geographic'' (formerly the ''National Geographic Magazine'', sometimes branded as NAT GEO) is a popular American monthly magazine published by National Geographic Partners. Known for its photojournalism, it is one of the most widely ...
''
{{DEFAULTSORT:Haplogroup E1b1a (Y-Dna)
E1b1a
Haplogroup E-V38 is a human Y-chromosome DNA haplogroup. It is primarily distributed in Sub Saharan Africa. E-V38 has two basal branches, E-M329 (formerly E1b1c or E1b1*) and E-M2 (formerly E3a & E1b1a). The E-M329 subclade is today almost excl ...