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In
human mitochondrial genetics Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria ...
, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically modern human (''
Homo sapiens Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
'') mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed " Mitochondrial Eve". Its two sub-clades are L1-6 and L0. The split occurred during the Penultimate Glacial Period; L1-6 is estimated to have formed ca. 170 kya, and L0 ca. 150 kya. The formation of L0 is associated with the peopling of Southern Africa by populations ancestral to the
Khoisan Khoisan ( ) or () is an Hypernymy and hyponymy, umbrella term for the various Indigenous peoples of Africa, indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the San people, Sān peo ...
, ca. 140 kya, at the onset of the Eemian interglacial. L is further subdivided into L1-6 and L1, dated ca. 150 kya and 130 kya, respectively. Haplogroups L5 (120 kya), L2 and L6 (90 kya), L4 (80 kya) and L3 (70 kya).


Origin

The outgroup for mtDNA phylogeny of modern humans is the mtDNA of
archaic humans ''Homo'' () is a genus of great ape (family Hominidae) that emerged from the genus ''Australopithecus'' and encompasses only a single extant species, ''Homo sapiens'' (modern humans), along with a number of extinct species (collectively calle ...
, specifically
Neanderthals Neanderthals ( ; ''Homo neanderthalensis'' or sometimes ''H. sapiens neanderthalensis'') are an extinction, extinct group of archaic humans who inhabited Europe and Western and Central Asia during the Middle Pleistocene, Middle to Late Plei ...
and
Denisovans The Denisovans or Denisova hominins ( ) are an extinct species or subspecies of archaic human that ranged across Asia during the Lower Paleolithic, Lower and Middle Paleolithic, and lived, based on current evidence, from 285 thousand to 25 thou ...
. The split of the modern human lineage from the Neanderthal and Denisovan lineage is dated to between ca. 760–550 kya based on full genome analysis. This is consistent with the estimate based on Y-chromosomal DNA, which places the split between ca. 806–447 kya. In terms of mtDNA, however, it appears that modern humans and Neanderthals form a sister clade, with Denisovans as basal outgroup. The split of Neanderthal and modern human mtDNA is dated to about 498–295 kya, i.e. significantly younger than the date estimated based on nuclear DNA. This has been explained as reflecting early
gene flow In population genetics, gene flow (also known as migration and allele flow) is the transfer of genetic variation, genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent ...
from Africa into the Neanderthal genome, around 270 kya or earlier, i.e. around the time of the first emergence of anatomically modern humans (
Jebel Irhoud Jebel Irhoud or Adrar n Ighoud (; , Moroccan Arabic: ), is an archaeological site located just north of the town of Ighoud, Tlet Ighoud in Youssoufia Province, approximately south-east of the city of Safi, Morocco, Safi in Morocco. It is noted f ...
). Posth et al. (2017) suggest the possibility that early ''Homo sapiens'' mtDNA from Africa may have replaced the original Neanderthal mtDNA entirely even when assuming minimal admixture. The Neanderthal and Denisovan lineages diverged before about 430 kya, and Denisovan mtDNA was not affected by the introgression. The
most recent common ancestor A most recent common ancestor (MRCA), also known as a last common ancestor (LCA), is the most recent individual from which all organisms of a set are inferred to have descended. The most recent common ancestor of a higher taxon is generally assu ...
of modern human mtDNA (dubbed " Mitochondrial Eve") is dated to ca. 230–150 kya. The emergence of haplogroup L1-6 by definition dates a later time, at an estimated 200–130 kya, possibly in a population in eastern Africa. Haplogroup L0 emerges from the basal haplogroup L1-6* somewhat later, at an estimated 190–110 kya. The deep time depth of these lineages entails that substructure of this haplogroup within Africa is complex and poorly understood. Date estimates are necessarily imprecise. The intervals cited above represent high and low estimates of the 95% confidence interval following Soares et al. (2009), the most likely ages are to be taken near the center of these intervals.


Phylogeny


L1-6

Haplogroup L1-6 (also L1'2'3'4'5'6) split off undifferentiated haplogroup L roughly 20,000 years after Mitochondrial Eve, or at roughly 170,000 years ago ( in the estimate of Soares et al. 2009). It diverged, in its turn, into L1 (150 kya), L5 (120 kya), and L2 (90 kya) before the recent out-of Africa event of ca. 70 kya. L3 emerges around 70 kya and is closely associated with the out-of-Africa event; it may have arisen either in East Africa or in Asia. L6 and L4 are sister clades of L3, but they are limited to East Africa and did not participate in the out-of-Africa migration. Undifferentiated L1'2'3'4'5'6 has been found in
Neanderthal Neanderthals ( ; ''Homo neanderthalensis'' or sometimes ''H. sapiens neanderthalensis'') are an extinction, extinct group of archaic humans who inhabited Europe and Western and Central Asia during the Middle Pleistocene, Middle to Late Plei ...
fossils from the Caucasus ( Mezmaiskaya cave) and the Altai (
Denisova Cave Denisova Cave () is a cave in the Altai Mountains, Bashelaksky Range of the Altai Mountains in Siberia, Russia. It is widely known for having provided items of great archaeology, paleoarchaeological and paleontology, paleontological interest. ...
), dated to before 50 kya. This suggests that an earlier wave of expansion of ''Homo sapiens'' left Africa between about 200–130 kya (during the Penultimate Glacial Period, cf. Skhul and Qafzeh hominins) and left genetic traces by interbreeding with Neanderthals before disappearing. Haplogroup L1 diverged from L at about 140,000 years ago. Its emergence is associated with the early peopling of Africa by anatomically modern humans during the Eemian, and it is now mostly found in Bantu & Semi Bantu speaking
West African West Africa, also known as 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, Ma ...
populations. Haplogroup L5 was formerly classified as L1e, but is now recognized as having diverged from L1 at about 120 kya. It is also mostly associated with pygmies, with highest frequency in Mbuti pygmies from Eastern Central Africa at 15%. Haplogroup L2 diverged from L(1'4'6)'2 at about 90 kya, associated with the peopling of East West Africa. As a result of the South East Bantu migration it is now spread throughout Central Sub-Saharan Africa, at the expense of the previously more widespread L0, L1 and L5. Haplogroup L6 diverged from L3'4'6 at about the same time, ca. 90 kya. It is now a minor haplogroup with distribution mostly limited to the Horn of Africa and southern East Africa. Haplogroup L3 diverged from L3'4 at about 70 kya, likely shortly before the Southern Dispersal event (Out-of-Africa migration), possibly in East Africa. The mtDNA of all non-Africans is derived from L3, divided into two main lineages, M and N. Haplogroup L4 is a minor haplogroup of East Africa that arose around 70 kya but did not participate in the out-of-Africa migration. The haplogroup formerly named L7 has been re-classified as a subclade of L4, named L4a.


L0

Haplogroup L0 arose between about 200 and 130 kya, that is, at about the same time as L1, before the beginning of the Eemian. It is associated with the peopling of
Southern Africa Southern Africa is the southernmost region of Africa. No definition is agreed upon, but some groupings include the United Nations geoscheme for Africa, United Nations geoscheme, the intergovernmental Southern African Development Community, and ...
after about 140,000 years ago. Its subclades are L0d and L0k. Both are almost exclusively restricted to the
Khoisan Khoisan ( ) or () is an Hypernymy and hyponymy, umbrella term for the various Indigenous peoples of Africa, indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the San people, Sān peo ...
of southern Africa, but L0d has also been detected among the Sandawe people of Tanzania, which suggests an ancient connection between the Khoisan and East African speakers of
click languages Click consonants, or clicks, are speech sounds that occur as consonants in many languages of Southern Africa and in three languages of East Africa. Examples familiar to English-speakers are the '' tut-tut'' (British spelling) or '' tsk! tsk!' ...
. Haplogroup L0f is present in relatively small frequencies in Tanzania among the Sandawe people who are known to be older than the
Khoisan Khoisan ( ) or () is an Hypernymy and hyponymy, umbrella term for the various Indigenous peoples of Africa, indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the San people, Sān peo ...
. L0a is most prevalent in South-East African populations (25% in
Mozambique Mozambique, officially the Republic of Mozambique, is a country located in Southeast Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi and Zambia to the northwest, Zimbabwe to the west, and Eswatini and South Afr ...
), and L0b is found in
Ethiopia Ethiopia, officially the Federal Democratic Republic of Ethiopia, is a landlocked country located in the Horn of Africa region of East Africa. It shares borders with Eritrea to the north, Djibouti to the northeast, Somalia to the east, Ken ...
.


Distribution

Putting aside its sub-branches, haplogroups M and N, the L haplogroups are predominant all over
sub-Saharan Africa Sub-Saharan Africa is the area and regions of the continent of Africa that lie south of the Sahara. These include Central Africa, East Africa, Southern Africa, and West Africa. Geopolitically, in addition to the list of sovereign states and ...
; L is at 96–100%, apart. It is found in
North Africa North Africa (sometimes Northern Africa) is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region. However, it is sometimes defined as stretching from the Atlantic shores of t ...
,
Arabian Peninsula The Arabian Peninsula (, , or , , ) or Arabia, is a peninsula in West Asia, situated north-east of Africa on the Arabian plate. At , comparable in size to India, the Arabian Peninsula is the largest peninsula in the world. Geographically, the ...
,
Middle East The Middle East (term originally coined in English language) is a geopolitical region encompassing the Arabian Peninsula, the Levant, Turkey, Egypt, Iran, and Iraq. The term came into widespread usage by the United Kingdom and western Eur ...
,
Americas The Americas, sometimes collectively called America, are a landmass comprising the totality of North America and South America.''Webster's New World College Dictionary'', 2010 by Wiley Publishing, Inc., Cleveland, Ohio. When viewed as a sing ...
,
Europe Europe is a continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south, and Asia to the east ...
, ranging from low to high frequencies depending on the country.


Africa

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.


South Africa

Haplogroup L reaches 100% in many native South African population. Various South Africa's ethnic minority have different frequencies of Haplogroup L lineages. It's found 47% in the Cape Coloured, 44% in
Cape Malay Cape Malays (, in Arabic Afrikaans, Arabic script) also known as Cape Muslims or Malays, are a Muslim community or ethnic group in South Africa. They are the descendants of enslaved and free Muslims from different parts of the world, specifi ...
, 14% in Indian Muslims, 20% in other Muslim population in South Africa.


North Africa

Haplogroup L is also found at moderate frequencies in
North Africa North Africa (sometimes Northern Africa) is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region. However, it is sometimes defined as stretching from the Atlantic shores of t ...
. For example, the various Berber populations 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 from Morocco, Tunisia and Libya. Frequency was the highest in Libyan Jews 3.6%. Moroccan Arabs have more elevated SSA maternal admixture at around 21% to 36% Via L-mtDNA sequences, Highest frequencies of L-mtDNA is reported to Moroccan Arabs of The Surrounding area of El jadida at 33%.


West Asia

Haplogroup L is also found in West Asia at low to moderate frequencies, most notably in
Yemen Yemen, officially the Republic of Yemen, is a country in West Asia. Located in South Arabia, southern Arabia, it borders Saudi Arabia to Saudi Arabia–Yemen border, the north, Oman to Oman–Yemen border, the northeast, the south-eastern part ...
where frequencies as high as 60% have been reported. It is also found at 15.50% in Bedouins from
Israel Israel, officially the State of Israel, is a country in West Asia. It Borders of Israel, shares borders with Lebanon to the north, Syria to the north-east, Jordan to the east, Egypt to the south-west, and the Mediterranean Sea to the west. Isr ...
, 13.68% in
Palestinians Palestinians () are an Arab ethnonational group native to the Levantine region of Palestine. *: "Palestine was part of the first wave of conquest following Muhammad's death in 632 CE; Jerusalem fell to the Caliph Umar in 638. The indigenou ...
, 12.55% in Jordanians, 9.48% in
Iraqis Iraqis ( ; ) are the citizens and nationals of the Republic of Iraq. The majority of Iraqis are Arabs, with Kurds accounting for the largest ethnic minority, followed by Turkmen. Other ethnic groups from the country include Yazidis, As ...
, 9.15% in
Syrians Syrians () are the majority inhabitants of Syria, indigenous to the Levant, most of whom have Arabic, especially its Levantine Arabic, Levantine and Mesopotamian Arabic, Mesopotamian dialects, as a mother tongue. The culture of Syria, cultural ...
, 7.5% in the Hazara of
Afghanistan Afghanistan, officially the Islamic Emirate of Afghanistan, is a landlocked country located at the crossroads of Central Asia and South Asia. It is bordered by Pakistan to the Durand Line, east and south, Iran to the Afghanistan–Iran borde ...
, 6.66% in Saudi Arabians, 2.84% in Lebanese, 2.60% in Druzes from Israel, 2.44% in
Kurds Kurds (), or the Kurdish people, are an Iranian peoples, Iranic ethnic group from West Asia. They are indigenous to Kurdistan, which is a geographic region spanning southeastern Turkey, northwestern Iran, northern Iraq, and northeastern Syri ...
and 1.76% in Turks. Overall the Arab slave trade and expansion of foreign empires that encapsulated
Saudi Arabia Saudi Arabia, officially the Kingdom of Saudi Arabia (KSA), is a country in West Asia. Located in the centre of the Middle East, it covers the bulk of the Arabian Peninsula and has a land area of about , making it the List of Asian countries ...
were linked to the presence of haplogroup L in the Saudi Arabian gene pool.


Europe

In Europe, haplogroup L is found at low frequencies, typically less than 1% with the exception of
Iberia The Iberian Peninsula ( ), also known as Iberia, is a peninsula in south-western Europe. Mostly separated from the rest of the European landmass by the Pyrenees, it includes the territories of peninsular Spain and Continental Portugal, compri ...
(Spain and Portugal) where regional frequencies as high as 18.2% have been reported and some regions of
Italy Italy, officially the Italian Republic, is a country in Southern Europe, Southern and Western Europe, Western Europe. It consists of Italian Peninsula, a peninsula that extends into the Mediterranean Sea, with the Alps on its northern land b ...
where frequencies between 2 and 3% have been found. Overall frequency in
Iberia The Iberian Peninsula ( ), also known as Iberia, is a peninsula in south-western Europe. Mostly separated from the rest of the European landmass by the Pyrenees, it includes the territories of peninsular Spain and Continental Portugal, compri ...
is higher in
Portugal Portugal, officially the Portuguese Republic, is a country on the Iberian Peninsula in Southwestern Europe. Featuring Cabo da Roca, the westernmost point in continental Europe, Portugal borders Spain to its north and east, with which it share ...
than in
Spain Spain, or the Kingdom of Spain, is a country in Southern Europe, Southern and Western Europe with territories in North Africa. Featuring the Punta de Tarifa, southernmost point of continental Europe, it is the largest country in Southern Eur ...
where frequencies are only high in the south and west of the country. 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, officially the Portuguese Republic, is a country on the Iberian Peninsula in Southwestern Europe. Featuring Cabo da Roca, the westernmost point in continental Europe, Portugal borders Spain to its north and east, with which it share ...
(11.38%). Relatively high frequencies of 7.40% and 8.30% were also reported respectively in South Spain, in the present population of Huelva and Priego de Cordoba by Casas et al. 2006. Significant frequencies were also found in the
Autonomous regions of Portugal The two Autonomous Regions of Portugal from 1999 () are the Azores (''Região Autónoma dos Açores'') and Madeira (). Together with Continental Portugal (''Portugal Continental''), they form the Portugal, Portuguese Republic. History The auto ...
, with L haplogroups constituting about 13% of the lineages in
Madeira Madeira ( ; ), officially the Autonomous Region of Madeira (), is an autonomous Regions of Portugal, autonomous region of Portugal. It is an archipelago situated in the North Atlantic Ocean, in the region of Macaronesia, just under north of ...
and 3.4% in the
Azores The Azores ( , , ; , ), officially the Autonomous Region of the Azores (), is one of the two autonomous regions of Portugal (along with Madeira). It is an archipelago composed of nine volcanic islands in the Macaronesia region of the North Atl ...
. In the Spanish archipelago of
Canary Islands The Canary Islands (; ) or Canaries are an archipelago in the Atlantic Ocean and the southernmost Autonomous communities of Spain, Autonomous Community of Spain. They are located in the northwest of Africa, with the closest point to the cont ...
, 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 of Sayago in Spain and in Alcacer do Sal in Portugal. In
Italy Italy, officially the Italian Republic, is a country in Southern Europe, Southern and Western Europe, Western Europe. It consists of Italian Peninsula, a peninsula that extends into the Mediterranean Sea, with the Alps on its northern land b ...
, Haplogroup L lineages are present in some regions at frequencies between 2 and 3% in
Latium Latium ( , ; ) is the region of central western Italy in which the city of Rome was founded and grew to be the capital city of the Roman Empire. Definition Latium was originally a small triangle of fertile, volcanic soil (Old Latium) on whic ...
(2.90%), parts of
Tuscany Tuscany ( ; ) is a Regions of Italy, region in central Italy with an area of about and a population of 3,660,834 inhabitants as of 2025. The capital city is Florence. Tuscany is known for its landscapes, history, artistic legacy, and its in ...
,
Basilicata Basilicata (, ; ), also known by its ancient name Lucania (, , ), is an administrative region in Southern Italy, bordering on Campania to the west, Apulia to the north and east, and Calabria to the south. It has two coastlines: a 30-kilometr ...
and
Sicily Sicily (Italian language, Italian and ), officially the Sicilian Region (), is an island in the central Mediterranean Sea, south of the Italian Peninsula in continental Europe and is one of the 20 regions of Italy, regions of Italy. With 4. ...
. In 2015 study found that a prehistoric episode would be the main contributor to the sub-Saharan presence in Mediterranean Europe and Iberia. A 2018 study ascribed high levels of African admixture in Spain and Portugal to two separate episodes, one during the North African Islamic expansions into Iberia and one later one, possibly related to the slave trade.


The Americas

Haplogroup L lineages are found in the African diaspora of the Americas as well as indigenous Americans. Haplogroup L lineages are predominant among
African Americans African Americans, also known as Black Americans and formerly also called Afro-Americans, are an American racial and ethnic group that consists of Americans who have total or partial ancestry from any of the Black racial groups of Africa ...
,
Afro-Caribbeans Afro-Caribbean or African Caribbean people are Caribbean people who trace their full or partial ancestry to Sub-Saharan Africa. The majority of the modern Afro-Caribbean people descend from the Africans (primarily from West and Central Africa) ...
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 Brazilians. Alves Silva reports that 28% of a sample of White Brazilians belong to haplogroup L. In
Argentina Argentina, officially the Argentine Republic, is a country in the southern half of South America. It covers an area of , making it the List of South American countries by area, second-largest country in South America after Brazil, the fourt ...
, a minor contribution of African lineages was observed throughout the country. Haplogroup L lineages were also reported at 8% in
Colombia Colombia, officially the Republic of Colombia, is a country primarily located in South America with Insular region of Colombia, insular regions in North America. The Colombian mainland is bordered by the Caribbean Sea to the north, Venezuel ...
, and at 4.50% in North-Central
Mexico Mexico, officially the United Mexican States, is a country in North America. It is the northernmost country in Latin America, and borders the United States to the north, and Guatemala and Belize to the southeast; while having maritime boundar ...
. In
North America North America is a continent in the Northern Hemisphere, Northern and Western Hemisphere, Western hemispheres. North America is bordered to the north by the Arctic Ocean, to the east by the Atlantic Ocean, to the southeast by South Ameri ...
, haplogroup L lineages were reported at a frequency of 0.90% in
White Americans White Americans (sometimes also called Caucasian Americans) are Americans who identify as white people. In a more official sense, the United States Census Bureau, which collects demographic data on Americans, defines "white" as " person hav ...
of European ancestry. Haplogroup L are detected in various Amerindian groups in ranging frequencies. It was found in 8% in the Nahua-Coyolillo and 7.1% in Chibcha speaking group
Nasa The National Aeronautics and Space Administration (NASA ) is an independent agencies of the United States government, independent agency of the federal government of the United States, US federal government responsible for the United States ...
ethnic group.


Haplogroup L Frequencies (> 1%)


See also

* Peopling of Africa * ''
Homo sapiens Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
'' *
Recent African origin of modern humans The recent African origin of modern humans or the "Out of Africa" theory (OOA) is the most widely accepted paleoanthropology, paleo-anthropological model of the geographic origin and Early human migrations, early migration of early modern h ...
*
Middle Stone Age The Middle Stone Age (or MSA) was a period of African prehistory between the Early Stone Age and the Late Stone Age. It is generally considered to have begun around 280,000 years ago and ended around 50–25,000 years ago. The beginnings of ...


References


External links


PhyloTree.org – mtDNA subtree L
Macro-haplogroup L by van Oven & Kayser M. {{MtDNA L Anatomically modern humans Recent African origin of modern humans Human evolution