Haplogroup L2 (mtDNA)
Encyclopedia
In human mitochondrial genetics
, Haplogroup L2 is a human mitochondrial DNA (mtDNA) haplogroup typical of Africa
. Its subclade L2a is a somewhat frequent and widespread mtDNA cluster in Africa, as well as in the African diaspora Americans (19%).(Salas 2002) et al.
populations shared genetic matches with East Africa
and North Africa
. An origin for L2b, L2c, L2d and L2e in West or Central Africa seems likely. The early diversity of L2 can be observed all over the African Continent, but as we can see in Subclades section below, the highest diversity is found in West Africa
. Most of subclades are largely confined to West and western-Central Africa.
The highest frequency is in Mbuti Pygmies (64%). Important presence in Western Africa, specially in Senegal
(43-54%). Also important in Non-Bantu populations of East Africa
(44%), in Sudan
and Mozambique
.
It is particularly abundant in Chad
and the Kanembou (38% of the sample), but is also relatively frequent in Nomadic Arabs (33%) [Cerny et al. 2007]
and Akan people
(~33%)
L2 has five main subgroups: L2a, L2b, L2c, L2d and L2e. The most common L2 sub group is Haplogroup L2a, both in Africa
and the Levant
.
and the most common and widely distributed sub-Saharan African Haplogroup and is also somewhat frequent at 19% in the Americas
among descendants of Africans (Salas et al., 2002). L2a has a possible date of origin approx. 48,000 YBP.
It is particularly abundant in Chad
(38% of the sample), and in Non-Bantu populations of East Africa
(Kenya
, Uganda
and Tanzania
) at 38%. About 33% in Mozambique
and 32% in Ghana
.
This subclade is characterised by mutations at 2789, 7175, 7274, 7771, 11914, 13803, 14566 and 16294. It represents 52% of the total L2 and is the only subclade of L2 to be widespread all over Africa.
The wide distribution of L2a and diversity makes identifying a geographical origin difficult. The main puzzle is the almost ubiquitous Haplogroup L2a, which may have spread East and West along the Sahel
Corridor in North Africa
after the Last Glacial Maximum
, or the origins of these expansions may lie earlier, at the beginnings of the Later Stone Age, ∼40,000 years ago.
In East Africa
L2a was found 15% in Nile Valley- Nubia
, 5% of Egyptians
, 14% of Cushite
speakers, 15% of Semitic
Amhara people
, 10% of Gurage
, 6% of Tigray-Tigrinya people
, 13% of Ethiopians and 5% of Yemen
is.
Haplogroup L2a also appears in North Africa
, with the highest frequency 20% Tuareg, Fulani (14%). Found also among some Algeria
Arabs, it is found at 10% among Moroccan
Arabs, some Moroccan Berbers and Tunisia
n Berbers. (watson 1997) et al., (vigilant 1991) et al. 1991.
This sequence is observed in West Africa among the Malinke, Wolof
, and others; in North Africa
among the Maure
/Moor
, Hausa
, Fulbe, and others; in Central Africa
among the Bamileke
, Fali, and others; in South Africa
among the Khoisan
family including the Khwe and Bantu
speakers; and in East Africa
among the Kikuyu from Kenya
. Closely related variants are observed among the Tuareg in North Africa
and West Africa
and among the East African Dinka
and Somali People
. (Ely et al. 2006; Watson et al. 1997)
All Ethiopian
L2 lineages can be seen as derived from the two subclades L2a1 and L2b. L2a1 is defined by mutations at 12693, 15784 and 16309. Most Ethiopian
L2a1 sequences share mutations at nps 16189 and 16309. However, whereas the majority (26 out of 33) "African Americans" share Haplogroup L2a complete sequences could be partitioned into four subclades by substitutions at nps L2a1e-3495, L2a1a-3918, L2a1f-5581, and L2a1i-15229. None of those sequences, were observed in Ethiopian
16309 L2a1 samples. (salas 2002) et al.
Matrilineal Ancestry of Ashkenazi Jewry: Haplogroup L2a1: A Portrait of a Recent Founder Event, displays the small frequency of L2a1/L2a1f {Doron M. Behar, Ene Metspalu, Toomas Kivisild,} 2006.
Subclade L2a1a is defined by substitutions at 3918, 5285, 15244, and 15629. There are two L2a clusters well represented in southeastern Africans, L2a1a and L2a1b, both defined by transitions at quite stable HVS-I positions. Both of these appear to have an origin in West Africa
or North West Africa (as indicated by the distribution of matching or neighboring types), and to have undergone dramatic expansion either in South East Africa
or in a population ancestral to present-day Southeastern Africans.
The very recent starbursts in subclades L2a1a and L2a2 suggest a signature for the Bantu expansions, as also suggested by Pereira et al. (2001).
L2a1a is defined by a mutation at 16286. The L2a1a founder candidate dates to 2,700 (SE 1,200) years ago. (Pereira et al. 2001). However, a prehistoric introgression of African mtDNA lineages into Eastern Europe
(approximately 10 000 years ago) seems to be probable only for Europe
an- specific subclade L2a1a, defined by coding region mutations at positions 6722 and 12903 and detected in Czechs and Slovaks
. It was previously known as L2a1a and found at its highest frequency in southeastern Africa. However, L2a1a, as defined by a substitution at (np 16286) (Salas et al. 2002), is now supported by a coding-region marker (np 3918) (fig. 2A) and was found in four of six Yemen
i L2a1 lineages. L2a1a occurs at its highest frequency in Southeastern Africa (Pereira et al. 2001; Salas et al. 2002). Both the frequent founder haplotype and derived lineages (with 16092 mutation) found among Yemen
is have exact matches within Mozambique
sequences (Pereira et al. 2001; Salas et al. 2002). L2a1a also occurs at a smaller frequency in North West Africa, among the Maure
and Bambara of Mali
and Mauritania
. (Rando et al. 1998; Maca-Meyer et al. 2003)
Haplogroup L2a1a1
L2a1a1 is defined by markers 6152C, 15391T, 16368C
L2a1b is defined by substitutions at 16189 and 10143. 16192 is also common in L2a1b and L2a1c; it appears in Southeastern Africa and so appears to be a marker for the Bantu expansion
.
L2a1c shares mutation 16189 with L2a1b, and has its own markers at 3010 and 6663. 16192 is also common in L2a1b and L2a1c; it appears in Southeastern Africa as well as East Africa. This suggests some diversification of this clade in situ.
Positions T16209C C16301T C16354T on top of L2a1 define a small sub-clade, dubbed L2a1c by Kivisild et al. (2004, Figure 3)
(see also Figure 6 in Salas et al. 2002), which mainly appears in East Africa
(e.g. Sudan
, Nubia
, Ethiopia
) and West Africa
(e.g. Turkana
, Kanuri).
In the Chad Basin four different L2a1c types, one or two mutational steps from the East and West African types, were identified.
(Kivisild et al.) 2004. (citation on page.9 or 443)
Haplogroup L2a1c1
L2a1c1 has a North African origin. It is defined by markers 198, 930, 3308, 8604, 16086.
L2a1c1 haplogroup is observed among Tunisia
Sephardic, Ashkenazi, Hebrews
, Moroccans, Egyptians
, Nubians
, Yemen
is etc.
, but it spreads all over Africa.
at 39%, Cape Verde
16% and Guinea-Bissau
16%.
. It is found in Tunisia
, in Mandinka people
from Guinea-Bissau
and in Afro-Americans.
Pre-Pottery Neolithic B
site at Tell Halula, Syria
, dating from the period between ca. 9600 and ca. 8000 BP or 7500 - 6000 BCE.
Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
, Haplogroup L2 is a human mitochondrial DNA (mtDNA) haplogroup typical of Africa
Africa
Africa is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area...
. Its subclade L2a is a somewhat frequent and widespread mtDNA cluster in Africa, as well as in the African diaspora Americans (19%).(Salas 2002) et al.
Origin
L2 is a common African lineage. It is believed to have evolved between 87,000 to 107,000 years ago or aprox. 90,000 YBP. Its age and widespread distribution and diversity across the continent makes its exact origin point within Africa difficult to trace with any confidence. Several L2 haplotypes observed in Guineans and other West AfricaWest Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
populations shared genetic matches with East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
and North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
. An origin for L2b, L2c, L2d and L2e in West or Central Africa seems likely. The early diversity of L2 can be observed all over the African Continent, but as we can see in Subclades section below, the highest diversity is found in West Africa
West Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
. Most of subclades are largely confined to West and western-Central Africa.
Distribution
L2 is the most common African haplogroup and it can be observed all over the African Continent. L2 is found in approximately one third of Africans and their recent descendants.The highest frequency is in Mbuti Pygmies (64%). Important presence in Western Africa, specially in 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...
(43-54%). Also important in Non-Bantu populations of East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
(44%), in Sudan
Sudan
Sudan , officially the Republic of the Sudan , is a country in North Africa, sometimes considered part of the Middle East politically. It is bordered by Egypt to the north, the Red Sea to the northeast, Eritrea and Ethiopia to the east, South Sudan to the south, the Central African Republic to the...
and Mozambique
Mozambique
Mozambique, officially the Republic of Mozambique , is a country in southeastern Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi and Zambia to the northwest, Zimbabwe to the west and Swaziland and South Africa to the southwest...
.
It is particularly abundant in Chad
Chad
Chad , officially known as the Republic of Chad, is a landlocked country in Central Africa. It is bordered by Libya to the north, Sudan to the east, the Central African Republic to the south, Cameroon and Nigeria to the southwest, and Niger to the west...
and the Kanembou (38% of the sample), but is also relatively frequent in Nomadic Arabs (33%) [Cerny et al. 2007]
and Akan people
Akan people
The Akan people are an ethnic group found predominately in Ghana and The Ivory Coast. Akans are the majority in both of these countries and overall have a population of over 20 million people.The Akan speak Kwa languages-Origin and ethnogenesis:...
(~33%)
Subclades
L2 has five main subgroups: L2a, L2b, L2c, L2d and L2e. The most common L2 sub group is Haplogroup L2a, both in Africa
Africa
Africa is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area...
and the Levant
Levant
The Levant or ) is the geographic region and culture zone of the "eastern Mediterranean littoral between Anatolia and Egypt" . The Levant includes most of modern Lebanon, Syria, Jordan, Israel, the Palestinian territories, and sometimes parts of Turkey and Iraq, and corresponds roughly to the...
.
Haplogroup L2a
L2a is widespread in AfricaAfrica
Africa is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area...
and the most common and widely distributed sub-Saharan African Haplogroup and is also somewhat frequent at 19% in the Americas
Americas
The Americas, or America , are lands in the Western hemisphere, also known as the New World. In English, the plural form the Americas is often used to refer to the landmasses of North America and South America with their associated islands and regions, while the singular form America is primarily...
among descendants of Africans (Salas et al., 2002). L2a has a possible date of origin approx. 48,000 YBP.
It is particularly abundant in Chad
Chad
Chad , officially known as the Republic of Chad, is a landlocked country in Central Africa. It is bordered by Libya to the north, Sudan to the east, the Central African Republic to the south, Cameroon and Nigeria to the southwest, and Niger to the west...
(38% of the sample), and in Non-Bantu populations of East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
(Kenya
Kenya
Kenya , officially known as the Republic of Kenya, is a country in East Africa that lies on the equator, with the Indian Ocean to its south-east...
, Uganda
Uganda
Uganda , officially the Republic of Uganda, is a landlocked country in East Africa. Uganda is also known as the "Pearl of Africa". It is bordered on the east by Kenya, on the north by South Sudan, on the west by the Democratic Republic of the Congo, on the southwest by Rwanda, and on the south by...
and Tanzania
Tanzania
The United Republic of Tanzania is a country in East Africa bordered by Kenya and Uganda to the north, Rwanda, Burundi, and the Democratic Republic of the Congo to the west, and Zambia, Malawi, and Mozambique to the south. The country's eastern borders lie on the Indian Ocean.Tanzania is a state...
) at 38%. About 33% in Mozambique
Mozambique
Mozambique, officially the Republic of Mozambique , is a country in southeastern Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi and Zambia to the northwest, Zimbabwe to the west and Swaziland and South Africa to the southwest...
and 32% in Ghana
Ghana
Ghana , officially the Republic of Ghana, is a country located in West Africa. It is bordered by Côte d'Ivoire to the west, Burkina Faso to the north, Togo to the east, and the Gulf of Guinea to the south...
.
This subclade is characterised by mutations at 2789, 7175, 7274, 7771, 11914, 13803, 14566 and 16294. It represents 52% of the total L2 and is the only subclade of L2 to be widespread all over Africa.
The wide distribution of L2a and diversity makes identifying a geographical origin difficult. The main puzzle is the almost ubiquitous Haplogroup L2a, which may have spread East and West along the Sahel
Sahel
The Sahel is the ecoclimatic and biogeographic zone of transition between the Sahara desert in the North and the Sudanian Savannas in the south.It stretches across the North African continent between the Atlantic Ocean and the Red Sea....
Corridor in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
after the Last Glacial Maximum
Last Glacial Maximum
The Last Glacial Maximum refers to a period in the Earth's climate history when ice sheets were at their maximum extension, between 26,500 and 19,000–20,000 years ago, marking the peak of the last glacial period. During this time, vast ice sheets covered much of North America, northern Europe and...
, or the origins of these expansions may lie earlier, at the beginnings of the Later Stone Age, ∼40,000 years ago.
In East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
L2a was found 15% in Nile Valley- Nubia
Nubia
Nubia is a region along the Nile river, which is located in northern Sudan and southern Egypt.There were a number of small Nubian kingdoms throughout the Middle Ages, the last of which collapsed in 1504, when Nubia became divided between Egypt and the Sennar sultanate resulting in the Arabization...
, 5% of 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...
, 14% of Cushite
Cushite
Cushite may refer to :*Cushitic languages**North Cushitic**Central Cushitic**Highland East Cushitic**Lowland East Cushitic**South Cushitic*the historical Kingdom of Kush*a biblical tribal name, see Cush...
speakers, 15% of Semitic
Semitic
In linguistics and ethnology, Semitic was first used to refer to a language family of largely Middle Eastern origin, now called the Semitic languages...
Amhara people
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% of Gurage
Gurage
Gurage is an ethnic group in Ethiopia. According to the 2007 national census, its population is 1,867,377 people , of whom 792,659 are urban dwellers. This is 2.53% of the total population of Ethiopia, or 7.52% of the Southern Nations, Nationalities, and People's Region...
, 6% of Tigray-Tigrinya people
Tigray-Tigrinya people
Tigray-Tigrinya are an ethnic group who live in the southern, central and northern parts of Eritrea and the northern highlands of Ethiopia's Tigray province. They also live in Ethiopia's former provinces of Begemder and Wollo, which are today mostly part of Amhara Region, though a few regions...
, 13% of Ethiopians and 5% of 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.
Haplogroup L2a also appears in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
, with the highest frequency 20% Tuareg, Fulani (14%). Found also among some 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...
Arabs, it is found at 10% among Moroccan
Morocco
Morocco , officially the Kingdom of Morocco , is a country located in North Africa. It has a population of more than 32 million and an area of 710,850 km², and also primarily administers the disputed region of the Western Sahara...
Arabs, some Moroccan Berbers and 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...
n Berbers. (watson 1997) et al., (vigilant 1991) et al. 1991.
Haplogroup L2a1
L2a can be further divided into L2a1, harboring the transition at 16309 (Salas et al. 2002). The most extensive pan-African haplotype (16189 16192 16223 16278 16294 16309 16390) is in the L2a1 haplogroup.This sequence is observed in West Africa among the Malinke, Wolof
Wolof people
The Wolof are an ethnic group found in Senegal, The Gambia, and Mauritania.In Senegal, the Wolof form an ethnic plurality with about 43.3% of the population are Wolofs...
, and others; in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
among the Maure
Maure
A Maure, since the 11th century, is the symbol of an African head. The term has Phoenician and Greek origins; see Moors.- U Moru :The main symbol in the coat of arms in Corsica is U Moru, Corsican for "The Moor", originally a female Moor blindfolded and wearing a necklace made of beads...
/Moor
Moors
The description Moors has referred to several historic and modern populations of the Maghreb region who are predominately of Berber and Arab descent. They came to conquer and rule the Iberian Peninsula for nearly 800 years. At that time they were Muslim, although earlier the people had followed...
, 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...
, Fulbe, and others; in Central Africa
Central 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....
among the 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...
, Fali, and others; in South Africa
South Africa
The Republic of South Africa is a country in southern Africa. Located at the southern tip of Africa, it is divided into nine provinces, with of coastline on the Atlantic and Indian oceans...
among the 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...
family including the Khwe and Bantu
Bantu languages
The Bantu languages constitute a traditional sub-branch of the Niger–Congo languages. There are about 250 Bantu languages by the criterion of mutual intelligibility, though the distinction between language and dialect is often unclear, and Ethnologue counts 535 languages...
speakers; and in East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
among the Kikuyu from Kenya
Kenya
Kenya , officially known as the Republic of Kenya, is a country in East Africa that lies on the equator, with the Indian Ocean to its south-east...
. Closely related variants are observed among the Tuareg in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
and West Africa
West Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
and among the East African Dinka
Dinka
The Dinka is an ethnic group inhabiting the Bahr el Ghazal region of the Nile basin, Jonglei and parts of southern Kordufan and Upper Nile regions. They are mainly agro-pastoral people, relying on cattle herding at riverside camps in the dry season and growing millet and other varieties of grains ...
and Somali People
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...
. (Ely et al. 2006; Watson et al. 1997)
All Ethiopian
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...
L2 lineages can be seen as derived from the two subclades L2a1 and L2b. L2a1 is defined by mutations at 12693, 15784 and 16309. Most Ethiopian
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...
L2a1 sequences share mutations at nps 16189 and 16309. However, whereas the majority (26 out of 33) "African Americans" share Haplogroup L2a complete sequences could be partitioned into four subclades by substitutions at nps L2a1e-3495, L2a1a-3918, L2a1f-5581, and L2a1i-15229. None of those sequences, were observed in Ethiopian
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...
16309 L2a1 samples. (salas 2002) et al.
Matrilineal Ancestry of Ashkenazi Jewry: Haplogroup L2a1: A Portrait of a Recent Founder Event, displays the small frequency of L2a1/L2a1f {Doron M. Behar, Ene Metspalu, Toomas Kivisild,} 2006.
Haplogroup L2a1a
Subclade L2a1a is defined by substitutions at 3918, 5285, 15244, and 15629. There are two L2a clusters well represented in southeastern Africans, L2a1a and L2a1b, both defined by transitions at quite stable HVS-I positions. Both of these appear to have an origin in West Africa
West Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
or North West Africa (as indicated by the distribution of matching or neighboring types), and to have undergone dramatic expansion either in South East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
or in a population ancestral to present-day Southeastern Africans.
The very recent starbursts in subclades L2a1a and L2a2 suggest a signature for the Bantu expansions, as also suggested by Pereira et al. (2001).
L2a1a is defined by a mutation at 16286. The L2a1a founder candidate dates to 2,700 (SE 1,200) years ago. (Pereira et al. 2001). However, a prehistoric introgression of African mtDNA lineages into Eastern Europe
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
(approximately 10 000 years ago) seems to be probable only for Europe
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
an- specific subclade L2a1a, defined by coding region mutations at positions 6722 and 12903 and detected in Czechs and Slovaks
Slovaks
The Slovaks, Slovak people, or Slovakians are a West Slavic people that primarily inhabit Slovakia and speak the Slovak language, which is closely related to the Czech language.Most Slovaks today live within the borders of the independent Slovakia...
. It was previously known as L2a1a and found at its highest frequency in southeastern Africa. However, L2a1a, as defined by a substitution at (np 16286) (Salas et al. 2002), is now supported by a coding-region marker (np 3918) (fig. 2A) and was found in four of six 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....
i L2a1 lineages. L2a1a occurs at its highest frequency in Southeastern Africa (Pereira et al. 2001; Salas et al. 2002). Both the frequent founder haplotype and derived lineages (with 16092 mutation) found among 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 have exact matches within Mozambique
Mozambique
Mozambique, officially the Republic of Mozambique , is a country in southeastern Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi and Zambia to the northwest, Zimbabwe to the west and Swaziland and South Africa to the southwest...
sequences (Pereira et al. 2001; Salas et al. 2002). L2a1a also occurs at a smaller frequency in North West Africa, among the Maure
Maure
A Maure, since the 11th century, is the symbol of an African head. The term has Phoenician and Greek origins; see Moors.- U Moru :The main symbol in the coat of arms in Corsica is U Moru, Corsican for "The Moor", originally a female Moor blindfolded and wearing a necklace made of beads...
and Bambara of Mali
Mali
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...
and Mauritania
Mauritania
Mauritania is a country in the Maghreb and West Africa. It is bordered by the Atlantic Ocean in the west, by Western Sahara in the north, by Algeria in the northeast, by Mali in the east and southeast, and by Senegal in the southwest...
. (Rando et al. 1998; Maca-Meyer et al. 2003)
Haplogroup L2a1a1
L2a1a1 is defined by markers 6152C, 15391T, 16368C
Haplogroup L2a1b
L2a1b is defined by substitutions at 16189 and 10143. 16192 is also common in L2a1b and L2a1c; it appears in Southeastern Africa and so appears to be a marker for 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...
.
Haplogroup L2a1c
L2a1c shares mutation 16189 with L2a1b, and has its own markers at 3010 and 6663. 16192 is also common in L2a1b and L2a1c; it appears in Southeastern Africa as well as East Africa. This suggests some diversification of this clade in situ.
Positions T16209C C16301T C16354T on top of L2a1 define a small sub-clade, dubbed L2a1c by Kivisild et al. (2004, Figure 3)
(see also Figure 6 in Salas et al. 2002), which mainly appears in East Africa
East Africa
East Africa or Eastern Africa is the easterly region of the African continent, variably defined by geography or geopolitics. In the UN scheme of geographic regions, 19 territories constitute Eastern Africa:...
(e.g. Sudan
Sudan
Sudan , officially the Republic of the Sudan , is a country in North Africa, sometimes considered part of the Middle East politically. It is bordered by Egypt to the north, the Red Sea to the northeast, Eritrea and Ethiopia to the east, South Sudan to the south, the Central African Republic to the...
, Nubia
Nubia
Nubia is a region along the Nile river, which is located in northern Sudan and southern Egypt.There were a number of small Nubian kingdoms throughout the Middle Ages, the last of which collapsed in 1504, when Nubia became divided between Egypt and the Sennar sultanate resulting in the Arabization...
, 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...
) and West Africa
West Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
(e.g. Turkana
Turkana
Turkana may refer to:* Turkana people of Kenya and Ethiopia* Turkana language of Kenya and Ethiopia* Lake Turkana in Kenya* Lake Turkana National Parks* Turkana District in Kenya* the fictional world of Turkana IV in a Star Trek Next Generation episode...
, Kanuri).
In the Chad Basin four different L2a1c types, one or two mutational steps from the East and West African types, were identified.
(Kivisild et al.) 2004. (citation on page.9 or 443)
Haplogroup L2a1c1
L2a1c1 has a North African origin. It is defined by markers 198, 930, 3308, 8604, 16086.
L2a1c1 haplogroup is observed among 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...
Sephardic, Ashkenazi, Hebrews
Hebrews
Hebrews is an ethnonym used in the Hebrew Bible...
, Moroccans, 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...
, Nubians
Nubians
The Nubians are an ethnic group originally from northern Sudan, and southern Egypt now inhabiting North Africa and some parts of East Africa....
, 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 etc.
Haplogroup L2b
This subclade is predominantly found in West AfricaWest Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
, but it spreads all over Africa.
Haplogroup L2c
L2c is most frequent in Western Africa and may have arisen there. Specially present in SenegalSenegal
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...
at 39%, Cape Verde
Cape Verde
The Republic of Cape Verde is an island country, spanning an archipelago of 10 islands located in the central Atlantic Ocean, 570 kilometres off the coast of Western Africa...
16% and 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....
16%.
Haplogroup L2d
L2d is most frequent in Western Africa and may have arisen there. It is found in Yemen, Mozambique and Sudan.Haplogroup L2e
L2e (former L2d2) is typical in West AfricaWest Africa
West Africa or Western Africa is the westernmost region of the African continent. Geopolitically, the UN definition of Western Africa includes the following 16 countries and an area of approximately 5 million square km:-Flags of West Africa:...
. It is found in 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...
, in Mandinka people
Mandinka people
The Mandinka, Malinke are one of the largest ethnic groups in West Africa with an estimated population of eleven million ....
from 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....
and in Afro-Americans.
Ancient DNA
No ancient DNA has so far been retrieved from African remains, with the exception of Haplogroup L2a1, which was found in two specimens from the Southern LevantSouthern Levant
The Levant is the geographical region bordering the Mediterranean, roughly between Egypt and Anatolia . The Southern Levant is roughly encompassed by Palestine, the West Bank, the Gaza Strip, along with the modern sovereign states of Israel, Jordan and the southern part of Lebanon.Although the term...
Pre-Pottery Neolithic B
Pre-Pottery Neolithic B
Pre-Pottery Neolithic B is a division of the Neolithic developed by Dame Kathleen Kenyon during her archaeological excavations at Jericho in the southern Levant region....
site at Tell Halula, Syria
Syria
Syria , officially the Syrian Arab Republic , is a country in Western Asia, bordering Lebanon and the Mediterranean Sea to the West, Turkey to the north, Iraq to the east, Jordan to the south, and Israel to the southwest....
, dating from the period between ca. 9600 and ca. 8000 BP or 7500 - 6000 BCE.
Tree
This phylogenetic tree of haplogroup L2 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation and subsequent published research.- Most Recent Common Ancestor (MRCA)
- L1'2'3'4'5'6
- L2'3'4'6
- L2
- L2a'b'c'd
- L2a
- L2a1
- L2a1a
- L2a1a1
- L2a1a2
- L2a1a2a
- L2a1a2a1
- L2a1a2b
- L2a1a2a
- L2a1a3
- 16189 (16192)
- L2a1b
- L2a1b1
- L2a1f
- L2a1f1
- L2a1b
- 143
- L2a1c
- L2a1c1
- L2a1c2
- L2a1c3
- L2a1c4
- L2a1d
- L2a1e
- L2a1e1
- L2a1h
- 16189
- L2a1i
- L2a1j
- L2a1k
- 16192
- L2a1l
- L2a1l1
- L2a1l1a
- L2a1l2
- L2a1l1
- L2a1l
- L2a1c
- L2a1a
- L2a2
- L2a2a
- L2a2a1
- L2a2b
- L2a2b1
- L2a2a
- L2a1
- L2b'c
- L2b
- L2b1
- L2b1a
- L2b1a2
- L2b1a3
- L2b1a
- L2b1
- L2c
- L2c2
- L2c2a
- L2c3
- L2c2
- L2b
- L2d
- L2d1
- L2d1a
- L2d1
- L2a
- L2e
- L2a'b'c'd
- L2
- L2'3'4'6
- L1'2'3'4'5'6
See also
- Genealogical DNA testGenealogical DNA testA genealogical DNA test examines the nucleotides at specific locations on a person's DNA for genetic genealogy purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders ; they are intended only to give genealogical...
- Genetic GenealogyGenetic genealogyGenetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Human mitochondrial geneticsHuman mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
- Population GeneticsPopulation geneticsPopulation genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
- Human mitochondrial DNA haplogroupsHuman mitochondrial DNA haplogroupsIn human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree...
External links
- Ian Logan's Haplogroup L2. Mitochondrial DNA Site
- Ian Logan's L2bcd. Mitochondrial DNA Site
- Mannis van Oven's PhyloTree.org - mtDNA subtree L
- Spread of Haplogroup L2, from National Geographic