Macro-haplogroup L (mtDNA)
Encyclopedia
Haplogroup L
Time of origin 151,600–233,600 YBP
Place of origin Eastern Africa
Descendants L0
Haplogroup L0 (mtDNA)
-Distribution:It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%. Some of the higher frequencies are: Namibia 79%, South Africa 83% and Botswana 100%....

, L1-6


In human mitochondrial genetics
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....

, L is the mitochondrial DNA macro-haplogroup that is at the root of the human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans.

Macro-haplogroup L's origin is connected with Mitochondrial Eve
Mitochondrial Eve
In the field of human genetics, Mitochondrial Eve refers to the matrilineal "MRCA" . In other words, she was the woman from whom all living humans today descend, on their mother's side, and through the mothers of those mothers and so on, back until all lines converge on one person...

, and thus, is believed to suggest an ultimate African origin of modern humans
Recent African origin of modern humans
In paleoanthropology, the recent African origin of modern humans is the most widely accepted model describing the origin and early dispersal of anatomically modern humans...

. Its major sub-clades include L0
Haplogroup L0 (mtDNA)
-Distribution:It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%. Some of the higher frequencies are: Namibia 79%, South Africa 83% and Botswana 100%....

, L1
Haplogroup L1 (mtDNA)
In human mitochondrial genetics, Haplogroup L1 is a human mitochondrial DNA haplogroup common in Central and West Africa.-Origin:Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago...

, L2
Haplogroup L2 (mtDNA)
In human mitochondrial genetics, Haplogroup L2 is a human mitochondrial DNA 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 . et al.-Origin:L2 is a common African lineage. It is believed to...

, L3
Haplogroup L3 (mtDNA)
In human mitochondrial genetics, Haplogroup L3 is a human mitochondrial DNA haplogroup. Haplogroup L3 has played a pivotal role in the history of the human species...

, L4
Haplogroup L4 (mtDNA)
In human mitochondrial genetics, Haplogroup L4 is a human mitochondrial DNA haplogroup.It is a small African haplogroup.-Distribution:L4 is important in East Africa and Horn of Africa...

, L5
Haplogroup L5 (mtDNA)
In human mitochondrial genetics, Haplogroup L5 is a human mitochondrial DNA haplogroup. It was previously known as L1e.-Distribution:It is a small African haplogroup from East Africa. The highest frequency is in Mbuti Pygmies at 15%...

 and L6
Haplogroup L6 (mtDNA)
In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA haplogroup. It is a small African haplogroup.-Tree:This phylogenetic tree of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human...

, with all non-Africans exclusively descended from just haplogroup L3.

Haplogroup L3 descendants notwithstanding, the designation "haplogroup L" is typically used to designate the family of mtDNA clades that are most frequently found in Sub-Saharan Africa. However, all non-African haplogroups coalesce onto either haplogroup M
Haplogroup M (mtDNA)
In human mitochondrial genetics, Haplogroup M is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling N, is a descendant of haplogroup L3....

 or haplogroup N
Haplogroup N (mtDNA)
In human mitochondrial genetics, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M, is a descendant of haplogroup L3....

, and both these macrohaplogroups are simply sub-branches of haplogroup L3
Haplogroup L3 (mtDNA)
In human mitochondrial genetics, Haplogroup L3 is a human mitochondrial DNA haplogroup. Haplogroup L3 has played a pivotal role in the history of the human species...

. Consequently, L in its broadest definition is really a paragroup containing all of modern humanity, and all human mitochondrial DNA from around the world are subclades of haplogroup L. Haplogroups M and N are sometimes referred to as haplogroups L3M and L3N respectively. Mitochondrial Eve
Mitochondrial Eve
In the field of human genetics, Mitochondrial Eve refers to the matrilineal "MRCA" . In other words, she was the woman from whom all living humans today descend, on their mother's side, and through the mothers of those mothers and so on, back until all lines converge on one person...

 is defined as the female human ancestor who is the most recent common ancestor of the most deep-rooted lineages of humanity: haplogroups L, L0 and L1-6.

Origin

Studies of human mitochondrial (mt) DNA genomes demonstrate that the root of the human phylogenetic tree occurs in sub-Saharan Africa
Sub-Saharan Africa
Sub-Saharan Africa as a geographical term refers to the area of the African continent which lies south of the Sahara. A political definition of Sub-Saharan Africa, instead, covers all African countries which are fully or partially located south of the Sahara...

. The data suggest that Tanzanians have high genetic diversity and possess ancient mtDNA haplogroups, some of which are either rare or absent in other regions of Africa. A large and diverse human population has persisted in eastern Africa and that region may have been an ancient source of dispersion of modern humans both within and outside of Africa.

Mitochondrial Eve
Mitochondrial Eve
In the field of human genetics, Mitochondrial Eve refers to the matrilineal "MRCA" . In other words, she was the woman from whom all living humans today descend, on their mother's side, and through the mothers of those mothers and so on, back until all lines converge on one person...

 is the ancestor of this macro-haplogroup and she is estimated to have lived approximately 190,000 years ago.

Distribution

Putting aside its sub-branches, haplogroups M and N, L haplogroups are predominant all over sub-Saharan Africa
Sub-Saharan Africa
Sub-Saharan Africa as a geographical term refers to the area of the African continent which lies south of the Sahara. A political definition of Sub-Saharan Africa, instead, covers all African countries which are fully or partially located south of the Sahara...

; L is at 96-100%, apart from spreading areas of Afroasiatic languages, where it is lower. Low frequencies are 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...

, Arabian Peninsula
Arabian Peninsula
The Arabian Peninsula is a land mass situated north-east of Africa. Also known as Arabia or the Arabian subcontinent, it is the world's largest peninsula and covers 3,237,500 km2...

, Middle East
Middle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...

 and 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...

.

Sub-Saharan Africa

With the exception of a number of lineages that returned to Africa from Eurasia after the out of Africa migration, all Sub-Saharan African lineages belong to haplogroup L. The "back-to-Africa" haplogroups including U6
Haplogroup U (mtDNA)
In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.-Origins:Haplogroup U descends from a woman in the Haplogroup R branch of the phylogenetic tree, who lived around 55,000 years ago...

, X1
Haplogroup X (mtDNA)
In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup. It has a widespread global distribution but no major regions of distinct localization.-Origin:...

 and possibly M1
Haplogroup M (mtDNA)
In human mitochondrial genetics, Haplogroup M is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling N, is a descendant of haplogroup L3....

 have returned to Africa possibly as far back as 45,000 years ago. Haplogroup H
Haplogroup H (mtDNA)
In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA haplogroup that likely originated in Southwest Asia 25,000-30,000 YBP.-Origin:...

, which is common among Berbers, is also believed to have entered Africa from Europe during the post post-glacial expansion
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...

.

The mutations that are used to identify the basal lineages of haplogroup L, are ancient and may be 150,000 years old. The deep time depth of these lineages entails that substructure of this haplogroup within Africa is complex and, at present, poorly understood. The first split within haplogroup L occurred 140-200kya, with the mutations that define macrohaplogroups L0 and L1-6. These two haplogroups are found throughout Africa at varying frequencies and thus exhibit an entangled pattern of mtDNA variation. However the distribution of some subclades of haplogroup L is structured around geographic or ethnic units. For example the deepest clades of haplogroup L0, L0d and L0k are almost exclusively restricted to the Khoisan of southern Africa. L0d has also been detected among the Sandawe of Tanzania, which suggests an ancient connection between the Khoisan and East African populations.

North Africa

Haplogroup L is also found at moderate frequencies 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...

. For example, the various Berber populations
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...

 have frequencies of haplogroup L lineages that range from 3% to 45%.
Haplogroup L has also been found at a small frequency of 2.2% in North African Jews
Berber Jews
Berber Jews are the Berber-speaking Jewish communities which used to live in certain parts of Atlas mountains in Morocco. Their origins are not clear as one theory builds the case for "Judeo-cized Berbers" while another defends the "Berber-ized Jews" thesis....

 from Morocco, Tunisia and Libya. Frequency was the highest in Libyan Jews 3.6%.

West Asia

Haplogroup L is also found in West Asia at low to moderate frequencies, most notably in 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....

 where frequencies as high as 60% have been reported. It is also found at 15.50% in Bedouins from Israel, 13.68% in Palestinians, 12.55% in Jordania
Jordânia
Jordânia is a Brazilian municipality located in the northeast of the state of Minas Gerais. The city belongs to the mesoregion of Jequitinhonha and to the microregion of Almenara. As of 2007 the population was 10,751 in a total area of 549 km²....

, 9.48% in Iraq
Iraq
Iraq ; officially the Republic of Iraq is a country in Western Asia spanning most of the northwestern end of the Zagros mountain range, the eastern part of the Syrian Desert and the northern part of the Arabian Desert....

, 9.15% in 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....

, 6.66% in 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...

, 2.84% in Lebanon
Lebanon
Lebanon , officially the Republic of LebanonRepublic of Lebanon is the most common term used by Lebanese government agencies. The term Lebanese Republic, a literal translation of the official Arabic and French names that is not used in today's world. Arabic is the most common language spoken among...

, 2.60% in Druzes from Israel, 2.44% in Kurds and 1.76% in Turks
Turkish people
Turkish people, also known as the "Turks" , are an ethnic group primarily living in Turkey and in the former lands of the Ottoman Empire where Turkish minorities had been established in Bulgaria, Cyprus, Bosnia and Herzegovina, Georgia, Greece, Kosovo, Macedonia, and Romania...

.

Europe

In Europe, haplogroup L is found at low frequencies, typically less than 1% with the exception of Iberia
Iberia
The name Iberia refers to three historical regions of the old world:* Iberian Peninsula, in Southwest Europe, location of modern-day Portugal and Spain** Prehistoric Iberia...

 where frequencies as high as 18.2% have been reported and some regions of Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...

 where frequencies between 2 and 3% have been found.

In Iberia
Iberia
The name Iberia refers to three historical regions of the old world:* Iberian Peninsula, in Southwest Europe, location of modern-day Portugal and Spain** Prehistoric Iberia...

 the frequency is higher in 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...

 (5.83%) than 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...

 where frequencies of (1.61%). Furthermore, in western Iberia, increasing frequencies are observed for Galicia (3.26%) and northern Portugal (3.21%), through the center (5.02%) and to the south of 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...

 (11.38%). Relatively high frequencies of 7.40% and 8.30% was also reported respectively in South Iberia (Spain and Portugal) and in the present population of Priego de Cordoba
Priego de Córdoba
Priego de Córdoba is a town and municipality of southern Spain in the extreme southeastern portion of the province of Córdoba, near the headwater of the Guadajoz River, and on the northern slope of the Sierra de Priego. The population in 2008 was 22,558....

 by Casas et al. 2006. Significant frequencies were also found in the Autonomous regions of Portugal
Autonomous regions of Portugal
The two Autonomous Regions of Portugal are the Azores and Madeira...

, with L haplogroups constituting about 13% of the lineages in Madeira
Madeira
Madeira is a Portuguese archipelago that lies between and , just under 400 km north of Tenerife, Canary Islands, in the north Atlantic Ocean and an outermost region of the European Union...

 and 3.4 % in the Azores
Azores
The Archipelago of the Azores is composed of nine volcanic islands situated in the middle of the North Atlantic Ocean, and is located about west from Lisbon and about east from the east coast of North America. The islands, and their economic exclusion zone, form the Autonomous Region of the...

. In the spanish archipelago of Canary Islands
Canary Islands
The Canary Islands , also known as the Canaries , is a Spanish archipelago located just off the northwest coast of mainland Africa, 100 km west of the border between Morocco and the Western Sahara. The Canaries are a Spanish autonomous community and an outermost region of the European Union...

, frequencies have been reported at 6.6%. According to some researchers L lineages in Iberia are associated to Islamic invasions, while for others it may be due to more ancient processes as well as more recent ones through the introduction of these lineages by means of the modern slave trade. The highest frequency (18.2%) of Sub-Saharan lineages found so far in Europe were observed by Alvarez et al. 2010 in the comarca
Comarca
A comarca is a traditional region or local administrative division found in parts of Spain, Portugal, Panama, Nicaragua, and Brazil. The term is derived from the term marca, meaning a "march, mark", plus the prefix co- meaning "together, jointly".The comarca is known in Aragonese as redolada and...

 of Sayago
Sayago
Sayago is a comarca in the province of Zamora, central Spain.- Geography :The comarca is located at the southwest of the Zamora province. The main geographical characteristic is the isolation caused by the Duero and Tormes rivers canyons...

 which is according to the authors "comparable to that described for the South of Portugal".

In Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...

, Haplogroup L lineages are present in some regions at frequencies between 2 and 3% in Latium (2.90%), Tuscany
Tuscany
Tuscany is a region in Italy. It has an area of about 23,000 square kilometres and a population of about 3.75 million inhabitants. The regional capital is Florence ....

, Basilicata
Basilicata
Basilicata , also known as Lucania, is a region in the south of Italy, bordering on Campania to the west, Apulia to the north and east, and Calabria to the south, having one short southwestern coastline on the Tyrrhenian Sea between Campania in the northwest and Calabria in the southwest, and a...

 and Sicily
Sicily
Sicily is a region of Italy, and is the largest island in the Mediterranean Sea. Along with the surrounding minor islands, it constitutes an autonomous region of Italy, the Regione Autonoma Siciliana Sicily has a rich and unique culture, especially with regard to the arts, music, literature,...

.

The Americas

Haplogroup L lineages are found in the African diaspora of the Americas. Haplogroup L lineages are predominant among African Americans, Afro-Caribbeans and Afro-Latin-Americans. In Brazil, Pena et al. report that 85% of self-identified Afro-Brazilians have Haplogroup L mtDNA sequences. Haplogroup L lineages are also found at moderate frequencies in self-identified White Brazilian
White Brazilian
White Brazilians make up 48.4% of Brazil's population, or around 92 million people, according to the IBGE's 2008 PNAD . Whites are present in the entire territory of Brazil, although the main concentrations are found in the South and Southeastern parts of the country...

s. Alves Silva reports that 28% of a sample of White Brazilians belong to haplogroup L. In Argentina
Argentina
Argentina , officially the Argentine Republic , is the second largest country in South America by land area, after Brazil. It is constituted as a federation of 23 provinces and an autonomous city, Buenos Aires...

, a minor contribution of African lineages was observed throughout the country. Haplogroup L lineages were also reported at 8% in Colombia
Colombia
Colombia, officially the Republic of Colombia , is a unitary constitutional republic comprising thirty-two departments. The country is located in northwestern South America, bordered to the east by Venezuela and Brazil; to the south by Ecuador and Peru; to the north by the Caribbean Sea; to the...

, and at 4.50% in North-Central 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...

. In North America
North America
North America is a continent wholly within the Northern Hemisphere and almost wholly within the Western Hemisphere. It is also considered a northern subcontinent of the Americas...

, haplogroup L lineages were reported at a frequency of 0.90% in White Americans of European ancestry.

Frequencies (> 1%)

Region Population or Country Number tested Reference %
East Africa Somalis 26 Watson et al. (1997) 50.00%
East Africa Sudan 112 Afonso et al. (2008) 72.50%
East Africa Ethiopia 270 Kivisild et al. (2004) 52.20%
North Africa Libya (Jews) 83 Behar et al. (2008) 3.60%
North Africa Tunisia (Jews) 37 Behar et al. (2008) 2.20%
North Africa Morocco (Jews) 149 Behar et al. (2008) 1.34%
North Africa Tunisia 64 Turchi et al. (2009) 48.40%
North Africa Tunisia (Takrouna) 33 Frigi et al. (2006) 3.03%
North Africa Tunisia (Zriba) 50 Turchi et al. (2009) 8.00%
North Africa Morocco 56 Turchi et al. (2009) 25.00%
North Africa Morocco (Berbers) 64 Turchi et al. (2009) 3.20%
North Africa Algeria (Mozabites) 85 Turchi et al. (2009) 12.90%
North Africa Algeria 47 Turchi et al. (2009) 20.70%
Europe Italy (Latium) 138 Achilli et al. (2007) 2.90%
Europe Italy (Volterra) 114 Achilli et al. (2007) 2.60%
Europe Italy (Basilicata) 92 Ottoni et al. (2009) 2.20%
Europe Italy (Sicily) 154 Ottoni et al. (2009) 2.00%
Europe Spain 312 Alvarez et al. (2007) 2.90%
Europe Spain (Galicia) 92 Pereira et al. (2005) 3.30%
Europe Spain (North East) 118 Pereira et al. (2005) 2.54%
Europe Spain (Priego de Cordoba) 108 Casas et al. (2006) 8.30%
Europe Spain (Zamora) 214 Alvarez et al. (2010) 4.70%
Europe Spain (Sayago) 33 Alvarez et al. (2010) 18.18%
Europe Spain (Catalonia) 101 Alvarez-Iglesias et al. (2009) 2.97%
Europe South Iberia 310 Casas et al. (2006) 7.40%
Europe Spain (Canaries) 300 Brehm et al. (2003) 6.60%
Europe Spain (Balearic Islands) 231 Picornell et al. (2005) 2.20%
Europe Portugal 594 Achilli et al. (2007) 6.90%
Europe Portugal (North) 188 Achilli et al. (2007) 3.19%
Europe Portugal (Central) 203 Achilli et al. (2007) 6.40%
Europe Portugal (South) 203 Achilli et al. (2007) 10.84%
Europe Portugal 549 Pereira et al. (2005) 5.83%
Europe Portugal (North) 187 Pereira et al. (2005) 3.21%
Europe Portugal (Central) 239 Pereira et al. (2005) 5.02%
Europe Portugal (South) 123 Pereira et al. (2005) 11.38%
Europe Portugal (Madeira) 155 Brehm et al. (2003) 12.90%
Europe Portugal (Açores) 179 Brehm et al. (2003) 3.40%
Europe Portugal (Alcacer do Sal) 50 Pereira et al. (2010) 22.00%
Europe Portugal (Coruche) 160 Pereira et al. (2010) 8.70%
Europe Portugal (Pias) 75 Pereira et al. (2010) 3.90%
West Asia Yemen 115 Kivisild et al. (2004) 45.70%
West Aasia Yemen (Jews) 119 Behar et al. (2008) 16.81%
West Asia Bedouins (Israel) 58 Behar et al. (2008) 15.50%
West Asia Palestinians (Israel) 117 Achilli et al. (2007) 13.68%
West Asia Jordania 494 Achilli et al. (2007) 12.50%
West Asia Iraq 116 Achilli et al. (2007) 9.48%
West Asia Syria 328 Achilli et al. (2007) 9.15%
West Asia Saudi Arabia 120 Abu-Amero et al. (2007) 6.66%
West Asia Lebanon 176 Achilli et al. (2007) 2.84%
West Asia Druzes (Israel) 77 Behar et al. (2008) 2.60%
West Asia Kurds 82 Achilli et al. (2007) 2.44%
West Asia Turkey 340 Achilli et al. (2007) 1.76%
South America Colombia (Antioquia) 113 Bedoya et al. (2006) 8.00%
North America Mexico (North-Central) 223 Green et al. (2000) 4.50%
South America Argentina 246 Corach et al. (2009) 2.03%

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