| Haplogroup L | |
|---|---|
| Time of origin | 230 to 150 kya[1][2] |
| Place of origin | Eastern Africa[3] |
| Descendants | L0,L1-6 |
Inhuman mitochondrial genetics,L is themitochondrial DNA macro-haplogroup that is at the root of theanatomically modern human (Homo sapiens) 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 areL1-6 andL0.The split occurred during thePenultimate Glacial Period; L1-6 is estimated to have formed ca. 170 kya, and L0 ca. 150 kya. The formation of L0 is associated with thepeopling of Southern Africa by populations ancestral to theKhoisan, ca. 140 kya, at the onset of theEemian interglacial.L is further subdivided into L1-6 andL1, dated ca. 150 kya and 130 kya, respectively.HaplogroupsL5 (120 kya),L2 andL6 (90 kya),L4 (80 kya) andL3 (70 kya).
The outgroup for mtDNA phylogeny of modern humans is the mtDNA ofarchaic humans, specificallyNeanderthals andDenisovans.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 onY-chromosomal DNA, which places the split between ca. 806–447 kya.[4]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 earlygene flow 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). Posth et al. (2017) suggest the possibility that earlyHomo 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.[4]
Themost recent common ancestor 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,[1] possibly in a population ineastern Africa.[3] 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.[5] Date estimates are necessarily imprecise. The intervals cited above represent high and low estimates of the95% confidence interval following Soares et al. (2009), the most likely ages are to be taken near the center of these intervals.[1]
| Haplogroup L1-6 | |
|---|---|
| Possible time of origin | 200 to 130 kya[6] |
| Ancestor | L (Mitochondrial Eve) |
| Descendants | L1, L2-L6 |
| Defining mutations | 146, 182, 4312, 10664, 10915, 11914, 13276, 16230[7] |
| Haplogroup L phylogeny |
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(167±36 kya in the estimate of Soares et al. 2009). It diverged, in its turn, intoL1 (150 kya),L5 (120 kya), andL2 (90 kya) before therecent 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 andL4 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 inNeanderthal fossils from the Caucasus (Mezmaiskaya cave) and the Altai (Denisova Cave), dated to before 50 kya. This suggests that an earlier wave of expansion ofHomo sapiens left Africa between about 200–130 kya (during thePenultimate Glacial Period, cf.Skhul and Qafzeh hominins) and left genetic traces byinterbreeding with Neanderthals before disappearing.[8][9]
HaplogroupL1 diverged from L at about 140,000 years ago. Its emergence is associated with the earlypeopling of Africa by anatomically modern humans during theEemian, and it is now mostly found in Bantu & Semi Bantu speakingWest African populations.
HaplogroupL5 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 inMbuti pygmies from Eastern Central Africa at 15%.[10]
HaplogroupL2 diverged from L(1'4'6)'2 at about 90 kya, associated with the peopling of East West Africa. As a result of theSouth East Bantu migration it is now spread throughout Central Sub-Saharan Africa, at the expense of the previously more widespread L0, L1 and L5.[11]
HaplogroupL6 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.
HaplogroupL3 diverged from L3'4 at about 70 kya, likely shortly before theSouthern 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 andN.
HaplogroupL4 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, namedL4a.
Haplogroup L0 arose between about 200 and 130 kya,[12]that is, at about the same time asL1, before the beginning of theEemian. It is associated with the peopling ofSouthern Africa after about 140,000 years ago.
Its subclades are L0d and L0k. Both are almost exclusively restricted to theKhoisan of southern Africa, but L0d has also been detected among theSandawe people of Tanzania, which suggests an ancient connection between the Khoisan and East African speakers ofclick languages.[13]
Haplogroup L0f is present in relatively small frequencies in Tanzania among theSandawe people who are known to be older than theKhoisan. L0a is most prevalent in South-East African populations (25% inMozambique), and L0b is found inEthiopia.
Putting aside its sub-branches, haplogroups M and N, theL haplogroups are predominant all oversub-Saharan Africa; L is at 96–100%, apart. It is found inNorth Africa,Arabian Peninsula,Middle East,Americas,Europe, ranging from low to high frequencies depending on the country.
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.[5] 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.[13]
Haplogroup L reaches 100% in many nativeSouth African population. Various South Africa's ethnic minority have different frequencies of Haplogroup L lineages. It's found 47% in theCape Coloured,44% inCape Malay,14% in Indian Muslims, 20% in other Muslim population in South Africa.[21]
Haplogroup L is also found at moderate frequencies inNorth Africa. For example, the variousBerber populations have frequencies of haplogroup L lineages that range from 3% to 45%.[22][23]Haplogroup L has also been found at a small frequency of 2.2% inNorth African Jews from Morocco, Tunisia and Libya. Frequency was the highest in Libyan Jews 3.6%.[24] 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%.[25]
Haplogroup L is also found in West Asia at low to moderate frequencies, most notably inYemen where frequencies as high as 60% have been reported.[26] It is also found at 15.50% inBedouins fromIsrael, 13.68% inPalestinians, 12.55% inJordanians, 9.48% inIraqis, 9.15% inSyrians, 7.5% in theHazara ofAfghanistan, 6.66% inSaudi Arabians, 2.84% inLebanese, 2.60% inDruzes from Israel, 2.44% inKurds and 1.76% inTurks.[27][28] Overall theArab slave trade and expansion of foreign empires that encapsulatedSaudi Arabia were linked to the presence of haplogroup L in the Saudi Arabian gene pool.[29]
In Europe, haplogroup L is found at low frequencies, typically less than 1% with the exception ofIberia (Spain and Portugal) where regional frequencies as high as 18.2% have been reported and some regions ofItaly where frequencies between 2 and 3% have been found.Overall frequency inIberia is higher inPortugal than inSpain where frequencies are only high in the south and west of the country. Increasing frequencies are observed forGalicia (3.26%) and northern Portugal (3.21%), through the center (5.02%) and to the south ofPortugal (11.38%).[30] Relatively high frequencies of 7.40% and 8.30% were also reported respectively in South Spain, in the present population ofHuelva andPriego de Cordoba by Casas et al. 2006.[31] Significant frequencies were also found in theAutonomous regions of Portugal, with L haplogroups constituting about 13% of the lineages inMadeira and 3.4% in theAzores. In the Spanish archipelago ofCanary Islands, frequencies have been reported at 6.6%.[32] 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 thecomarca ofSayago in Spain and in Alcacer do Sal in Portugal.[33][34]InItaly, Haplogroup L lineages are present in some regions at frequencies between 2 and 3% inLatium (2.90%), parts ofTuscany,[28]Basilicata andSicily.[35]In 2015 study found that a prehistoric episode would be the main contributor to the sub-Saharan presence in Mediterranean Europe and Iberia.[36] 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.[37]
Haplogroup L lineages are found in the African diaspora of the Americas as well as indigenous Americans. Haplogroup L lineages are predominant amongAfrican Americans,Afro-Caribbeans andAfro-Latin-Americans. In Brazil, Pena et al. report that 85% of self-identified Afro-Brazilians have Haplogroup L mtDNA sequences.[38] Haplogroup L lineages are also found at moderate frequencies in self-identifiedWhite Brazilians. Alves Silva reports that 28% of a sample of White Brazilians belong to haplogroup L.[39] InArgentina, a minor contribution of African lineages was observed throughout the country.[40] Haplogroup L lineages were also reported at 8% inColombia,[41] and at 4.50% in North-CentralMexico.[42] InNorth America, haplogroup L lineages were reported at a frequency of 0.90% inWhite Americans of European ancestry.[43]
Haplogroup L are detected in various Amerindian groups in ranging frequencies. It was found in 8% in theNahua-Coyolillo[44] and 7.1% in Chibcha speaking groupNasa ethnic group.[44]
| Region | Population or Country | Number tested | Reference | % |
|---|---|---|---|---|
| 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) | 26.80% |
| 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 | Malta | 132 | Caruana et al. (2016) | 15.90%[45][self-published source?] |
| 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 | Spain (Andalusia) | 1004 | Barral-Arca et al. (2016) | 2.6% |
| Europe | Spain (Castilla y Leon) | 428 | Barral-Arca et al. (2016) | 2.1% |
| Europe | Spain (Aragón) | 70 | Barral-Arca et al. (2016) | 4.3% |
| Europe | Spain (Asturias) | 99 | Barral-Arca et al. (2016) | 4.0% |
| Europe | Spain (Galicia) | 98 | Barral-Arca et al. (2016) | 2.0% |
| Europe | Spain (Madrid) | 178 | Barral-Arca et al. (2016) | 1.70% |
| Europe | Spain (Castilla-La Mancha) | 207 | Barral-Arca et al. (2016) | 1.40% |
| Europe | Spain (Extremadura) | 87 | Barral-Arca et al. (2016) | 1.10% |
| Europe | Spain (Huelva) | 280 | Hernández et al. (2015) | 3.93% |
| Europe | Spain (Granada) | 470 | Hernández et al. (2015) | 1.49% |
| 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% |
| Europe | Portugal | 1429 | Barral-Arca et al. (2016) | 6.16% |
| West Asia | Yemen | 115 | Kivisild et al. (2004) | 45.70% |
| West Asia | 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% |
the presence of haplogroups N1 and J in Tanzania suggest "back" migration from the Middle East or Eurasia into eastern Africa, which has been inferred from previous studies of other populations in eastern Africa
As regards sub-Saharan Hgs (L1b, L2b, and L3b), the high frequency found in the southern regions of Zamora, 18.2% in Sayago and 8.1% in Bajo Duero, is comparable to that described for the South of Portugal
Phylogenetic tree ofhuman mitochondrial DNA (mtDNA) haplogroups | |||||||||||||||||||||||||||||||||||||||
| Mitochondrial Eve (L) | |||||||||||||||||||||||||||||||||||||||
| L0 | L1–6 | ||||||||||||||||||||||||||||||||||||||
| L1 | L2 | L3 | L4 | L5 | L6 | ||||||||||||||||||||||||||||||||||
| M | N | ||||||||||||||||||||||||||||||||||||||
| CZ | D | E | G | Q | O | A | S | R | I | W | X | Y | |||||||||||||||||||||||||||
| C | Z | B | F | R0 | pre-JT | P | U | ||||||||||||||||||||||||||||||||
| HV | JT | K | |||||||||||||||||||||||||||||||||||||
| H | V | J | T | ||||||||||||||||||||||||||||||||||||