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Macro-haplogroup L (mtDNA)

February 27, 2023

This article is about the human mtDNA haplogroup. For the human Y-DNA haplogroup, see Haplogroup L-M20.

In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically 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".

Haplogroup L
Time of origin230 to 150 kya[1][2]
Place of originEastern Africa[3]
DescendantsL0, L1-6
Overview of the main divisions of haplogroup L.

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, 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

Main article: Mitochondrial Eve
Further information: Interbreeding between archaic and modern humans

The outgroup for mtDNA phylogeny of modern humans is the mtDNA of archaic humans, specifically Neanderthals and Denisovans. 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.[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 early gene 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 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. [4]

The most 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 in eastern 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 the 95% confidence interval following Soares et al. (2009), the most likely ages are to be taken near the center of these intervals.[1]

Phylogeny

L1-6

Haplogroup L1-6
Possible time of origin200 to 130 kya[6]
AncestorL (Mitochondrial Eve)
DescendantsL1, L2-L6
Defining mutations146, 182, 4312, 10664, 10915, 11914, 13276, 16230[7]
Haplogroup L phylogeny
L
 L1─6 
L1

L1

L2

 L0 

L0d

L0k

L0f

L0a

L0b

Further information: Haplogroup L1 (mtDNA), Haplogroup L2 (mtDNA), Haplogroup L3 (mtDNA), Haplogroup L4 (mtDNA), Haplogroup L5 (mtDNA), and Haplogroup L6 (mtDNA)

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, 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 fossils from the Caucasus (Mezmaiskaya cave) and the Altai (Denisova Cave), 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, c.f. Skhul and Qafzeh hominins) and left genetic traces by interbreeding with Neanderthals before disappearing.[8][9]

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 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%.[10]

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.[11]

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

Main article: Haplogroup L0 (mtDNA)

Haplogroup L0 arose between about 200 and 130 kya,[12] that is, at about the same time as L1, before the beginning of the Eemian. It is associated with the peopling of Southern Africa after about 140,000 years ago.

Its subclades are L0d and L0k. Both are almost exclusively restricted to the Khoisan 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.[13]

Haplogroup L0f is present in relatively small frequencies in Tanzania among the Sandawe people who are known to be older then the Khoisan. L0a is most prevalent in South-East African populations (25% in Mozambique), and L0b is found in Ethiopia.

Distribution

Putting aside its sub-branches, haplogroups M and N, the L haplogroups are predominant all over sub-Saharan Africa; L is at 96–100%, apart. It is found in North Africa, Arabian Peninsula, Middle East, Americas, Europe, 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.[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]

 
Macro-haplogroup L (mtDNA) composition within Africa. Approximate frequencies in:
  1. North Africa.[14][15]
  2. Sudan.[15]
  3. Ethiopia.[15][16]
  4. West Africa.[14]
  5. East Africa (Kenya, Uganda, Tanzania).[15][10][17]
  6. Southeast Africa (Mozambique).[18]
  7. Native Southern Africans (!Xung, !Kung and Khwe khoisans).[10][19]
  8. Mbenga Pygmies (Baka, Bi-Aka and Ba-Kola).[10][20]
  9. Ba-Mbuti Pygmies.[10]
  10. Hadza/Sandawe.[10]

South Africa

Haplogroup L reaches 100% in many South Africa 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, 14% in Indian muslims, 20% in other muslim population in South Africa.[21]

North Africa

Haplogroup L is also found at moderate frequencies in North Africa. For example, the various Berber 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% in North 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]

West Asia

See also: Genetic history of the Middle East

Haplogroup L is also found in West Asia at low to moderate frequencies, most notably in Yemen where frequencies as high as 60% have been reported.[26] It is also found at 15.50% in Bedouins from Israel, 13.68% in Palestinians, 12.55% in Jordanians, 9.48% in Iraqis, 9.15% in Syrians, 7.5% in the Hazara of Afghanistan, 6.66% in Saudi Arabians, 2.84% in Lebanese, 2.60% in Druzes from Israel, 2.44% in Kurds and 1.76% in Turks.[27][28] Overall the Arab slave trade and expansion of foreign empires that encapsulated Saudi Arabia were linked to the presence of haplogroup L in the Saudi Arabian gene pool.[29]

Europe

See also: Genetic history of the human population of Europe

In Europe, haplogroup L is found at low frequencies, typically less than 1% with the exception of Iberia (Spain and Portugal) where regional frequencies as high as 18.2% have been reported and some regions of Italy where frequencies between 2 and 3% have been found. Overall frequency in Iberia is higher in Portugal than in Spain 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 (11.38%).[30] 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.[31] Significant frequencies were also found in the Autonomous regions of Portugal, with L haplogroups constituting about 13% of the lineages in Madeira and 3.4% in the Azores. In the Spanish archipelago of Canary 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 the comarca of Sayago in Spain and in Alcacer do Sal in Portugal.[33][34] In Italy, Haplogroup L lineages are present in some regions at frequencies between 2 and 3% in Latium (2.90%), parts of Tuscany,[28] Basilicata and Sicily.[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]

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, Afro-Caribbeans and Afro-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-identified White Brazilians. Alves Silva reports that 28% of a sample of White Brazilians belong to haplogroup L.[39] In Argentina, a minor contribution of African lineages was observed throughout the country.[40] Haplogroup L lineages were also reported at 8% in Colombia,[41] and at 4.50% in North-Central Mexico.[42] In North America, haplogroup L lineages were reported at a frequency of 0.90% in White Americans of European ancestry.[43]

Haplogroup L are detected in various Amerindian groups in ranging frequencies. It was found in 8% in the Nahua-Coyolillo[44] and 7.1% in Chibcha speaking group Nasa ethnic group.[44]

Haplogroup L Frequencies (> 1%)

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%

See also

References

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Wikimedia Commons has media related to Macro-haplogroup L (mtDNA).
  • , Macro-haplogroup L by van Oven & Kayser M.

Phylogenetic tree of human 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

February 27, 2023
macro, haplogroup, mtdna, this, article, about, human, mtdna, haplogroup, human, haplogroup, haplogroup, human, mitochondrial, genetics, mitochondrial, macro, haplogroup, that, root, anatomically, modern, human, homo, sapiens, mtdna, phylogenetic, tree, such, . This article is about the human mtDNA haplogroup For the human Y DNA haplogroup see Haplogroup L M20 In human mitochondrial genetics L is the mitochondrial DNA macro haplogroup that is at the root of the anatomically 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 Haplogroup LTime of origin230 to 150 kya 1 2 Place of originEastern Africa 3 DescendantsL0 L1 6Overview of the main divisions of haplogroup L 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 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 Contents 1 Origin 2 Phylogeny 2 1 L1 6 2 2 L0 3 Distribution 3 1 Africa 3 2 South Africa 3 3 North Africa 3 4 West Asia 3 5 Europe 3 6 The Americas 4 Haplogroup L Frequencies gt 1 5 See also 6 References 7 External linksOrigin EditMain article Mitochondrial Eve Further information Interbreeding between archaic and modern humans The outgroup for mtDNA phylogeny of modern humans is the mtDNA of archaic humans specifically Neanderthals and Denisovans 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 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 early gene 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 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 4 The most 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 in eastern 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 the 95 confidence interval following Soares et al 2009 the most likely ages are to be taken near the center of these intervals 1 Phylogeny EditL1 6 Edit Haplogroup L1 6Possible time of origin200 to 130 kya 6 AncestorL Mitochondrial Eve DescendantsL1 L2 L6Defining mutations146 182 4312 10664 10915 11914 13276 16230 7 Haplogroup L phylogenyL L1 6 L1 L1L2L3L4L5L6L7 L0 L0dL0kL0fL0aL0bFurther information Haplogroup L1 mtDNA Haplogroup L2 mtDNA Haplogroup L3 mtDNA Haplogroup L4 mtDNA Haplogroup L5 mtDNA and Haplogroup L6 mtDNA 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 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 fossils from the Caucasus Mezmaiskaya cave and the Altai Denisova Cave 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 c f Skhul and Qafzeh hominins and left genetic traces by interbreeding with Neanderthals before disappearing 8 9 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 amp Semi Bantu speaking West African 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 10 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 11 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 Edit Main article Haplogroup L0 mtDNA Haplogroup L0 arose between about 200 and 130 kya 12 that is at about the same time as L1 before the beginning of the Eemian It is associated with the peopling of Southern Africa after about 140 000 years ago Its subclades are L0d and L0k Both are almost exclusively restricted to the Khoisan 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 13 Haplogroup L0f is present in relatively small frequencies in Tanzania among the Sandawe people who are known to be older then the Khoisan L0a is most prevalent in South East African populations 25 in Mozambique and L0b is found in Ethiopia Distribution EditPutting aside its sub branches haplogroups M and N the L haplogroups are predominant all over sub Saharan Africa L is at 96 100 apart It is found in North Africa Arabian Peninsula Middle East Americas Europe ranging from low to high frequencies depending on the country Africa Edit 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 Macro haplogroup L mtDNA composition within Africa Approximate frequencies in North Africa 14 15 Sudan 15 Ethiopia 15 16 West Africa 14 East Africa Kenya Uganda Tanzania 15 10 17 Southeast Africa Mozambique 18 Native Southern Africans Xung Kung and Khwe khoisans 10 19 Mbenga Pygmies Baka Bi Aka and Ba Kola 10 20 Ba Mbuti Pygmies 10 Hadza Sandawe 10 South Africa Edit Haplogroup L reaches 100 in many South Africa 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 14 in Indian muslims 20 in other muslim population in South Africa 21 North Africa Edit Haplogroup L is also found at moderate frequencies in North Africa For example the various Berber 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 in North 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 West Asia Edit See also Genetic history of the Middle East Haplogroup L is also found in West Asia at low to moderate frequencies most notably in Yemen where frequencies as high as 60 have been reported 26 It is also found at 15 50 in Bedouins from Israel 13 68 in Palestinians 12 55 in Jordanians 9 48 in Iraqis 9 15 in Syrians 7 5 in the Hazara of Afghanistan 6 66 in Saudi Arabians 2 84 in Lebanese 2 60 in Druzes from Israel 2 44 in Kurds and 1 76 in Turks 27 28 Overall the Arab slave trade and expansion of foreign empires that encapsulated Saudi Arabia were linked to the presence of haplogroup L in the Saudi Arabian gene pool 29 Europe Edit See also Genetic history of the human population of Europe In Europe haplogroup L is found at low frequencies typically less than 1 with the exception of Iberia Spain and Portugal where regional frequencies as high as 18 2 have been reported and some regions of Italy where frequencies between 2 and 3 have been found Overall frequency in Iberia is higher in Portugal than in Spain 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 11 38 30 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 31 Significant frequencies were also found in the Autonomous regions of Portugal with L haplogroups constituting about 13 of the lineages in Madeira and 3 4 in the Azores In the Spanish archipelago of Canary 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 the comarca of Sayago in Spain and in Alcacer do Sal in Portugal 33 34 In Italy Haplogroup L lineages are present in some regions at frequencies between 2 and 3 in Latium 2 90 parts of Tuscany 28 Basilicata and Sicily 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 The Americas Edit 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 Afro Caribbeans and Afro 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 identified White Brazilians Alves Silva reports that 28 of a sample of White Brazilians belong to haplogroup L 39 In Argentina a minor contribution of African lineages was observed throughout the country 40 Haplogroup L lineages were also reported at 8 in Colombia 41 and at 4 50 in North Central Mexico 42 In North America haplogroup L lineages were reported at a frequency of 0 90 in White Americans of European ancestry 43 Haplogroup L are detected in various Amerindian groups in ranging frequencies It was found in 8 in the Nahua Coyolillo 44 and 7 1 in Chibcha speaking group Nasa ethnic group 44 Haplogroup L Frequencies gt 1 EditRegion 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 Aragon 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 Hernandez et al 2015 3 93 Europe Spain Granada 470 Hernandez 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 Acores 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 See also EditPeopling of Africa Homo sapiens Recent African origin of modern humans Middle Stone AgeReferences Edit a b c 151 6 233 6 ka 95 CI according to Soares Pedro Ermini Luca Thomson Noel Mormina Maru Rito Teresa Rohl Arne Salas Antonio Oppenheimer Stephen Macaulay Vincent Richards Martin B June 2009 Correcting for Purifying Selection An Improved Human Mitochondrial Molecular Clock The American Journal of Human Genetics 84 6 740 759 doi 10 1016 j ajhg 2009 05 001 PMC 2694979 PMID 19500773 Age estimates ka 95 CI in angular brackets ML whole mtDNA age estimate 178 8 155 6 202 2 r whole mtDNA age estimate 185 2 153 8 216 9 r synonymous age estimate ka 174 8 153 8 216 9 Rito Teresa Richards Martin B Fernandes Veronica Alshamali Farida Cerny Viktor Pereira Luisa Soares Pedro 2013 11 13 The First Modern Human Dispersals across Africa PLOS ONE 8 11 e80031 Bibcode 2013PLoSO 880031R doi 10 1371 journal pone 0080031 PMC 3827445 PMID 24236171 a b Gonder MK Mortensen HM Reed FA de Sousa A Tishkoff SA March 2007 Whole mtDNA genome sequence analysis of ancient African lineages Mol Biol Evol 24 3 757 68 doi 10 1093 molbev msl209 PMID 17194802 a b Posth Cosimo Wissing Christoph Kitagawa Keiko Pagani Luca van Holstein Laura Racimo Fernando Wehrberger Kurt Conard Nicholas J Kind Claus Joachim Bocherens Herve Krause Johannes December 2017 Deeply divergent archaic mitochondrial genome provides lower time boundary for African gene flow into Neanderthals Nature Communications 8 1 16046 Bibcode 2017NatCo 816046P doi 10 1038 ncomms16046 PMC 5500885 PMID 28675384 a b Behar Doron M Villems Richard Soodyall Himla Blue Smith Jason Pereira Luisa Metspalu Ene Scozzari Rosaria Makkan Heeran Tzur Shay Comas David Bertranpetit Jaume Quintana Murci Lluis Tyler Smith Chris Wells R Spencer Rosset Saharon Genographic Consortium May 2008 The Dawn of Human Matrilineal Diversity The American Journal of Human Genetics 82 5 1130 1140 doi 10 1016 j ajhg 2008 04 002 PMC 2427203 PMID 18439549 166 8 36 7 36 1 kya Soares et al 2009 van Oven Mannis Manfred Kayser 13 Oct 2008 Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation Human Mutation 30 2 E386 E394 doi 10 1002 humu 20921 PMID 18853457 S2CID 27566749 Briggs A W Good J M Green R E Krause J Maricic T et al 2009 07 16 Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes Science American Association for the Advancement of Science AAAS 325 5938 318 321 Bibcode 2009Sci 325 318B doi 10 1126 science 1174462 ISSN 0036 8075 PMID 19608918 S2CID 7117454 Ferreira Renata C Rodrigues Camila R Broach James R Briones Marcelo RS 2017 09 18 Neandertal signatures in modern human mitochondrial genome haplogroups bioRxiv 10 1101 190363 a b c d e f Tishkoff S A Gonder M K Henn B M Mortensen H Knight A Gignoux C Fernandopulle N Lema G Nyambo T B Ramakrishnan U Reed F A Mountain J L 2007 07 21 History of Click Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation Molecular Biology and Evolution 24 10 2180 2195 doi 10 1093 molbev msm155 PMID 17656633 Marina Silva Farida Alshamali Paula Silva Carla Carrilho Flavio Mandlate Maria Jesus Trovoada Viktor Cerny Luisa Pereira Pedro Soares 60 000 years of interactions between Central and Eastern Africa documented by major African mitochondrial haplogroup L2 Sci Rep 2015 5 12526 doi 10 1038 srep12526 point estimate 168 5 ka 136 3 201 1 ka 95 CI according to Heinz Tanja Pala Maria Gomez Carballa Alberto Richards Martin B Salas Antonio March 2017 Updating the African human mitochondrial DNA tree Relevance to forensic and population genetics Forensic Science International Genetics 27 156 159 doi 10 1016 j fsigen 2016 12 016 PMID 28086175 table 2 150 ka suggested in Soares Pedro Ermini Luca Thomson Noel Mormina Maru Rito Teresa Rohl Arne Salas Antonio 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Leonor Gonzalez Valencia Gerardo Torres Javier Alvarez Berenice Mendoza Irma Flores Mario Sandoval Lucila Loeza Francisco Ramos Irma Munoz Leopoldo Salamanca Fabio 2007 Characterization of mtDNA Haplogroups in 14 Mexican Indigenous Populations Human Biology 79 3 313 320 doi 10 1353 hub 2007 0042 PMID 18078204 S2CID 35654242 Caruana Josef 2016 The Genetic Heritage of the Maltese Islands A Matrilineal perspective External links Edit Wikimedia Commons has media related to Macro haplogroup L mtDNA PhyloTree org mtDNA subtree L Macro haplogroup L by van Oven amp Kayser M Phylogenetic tree of human mitochondrial DNA mtDNA haplogroups Mitochondrial Eve L L0 L1 6 L1 L2 L3 L4 L5 L6M N CZ D E G Q O A S R I W X YC Z B F R0 pre JT P UHV JT KH V J T Retrieved from https en wikipedia org w index php title Macro haplogroup L mtDNA amp oldid 1099650737, wikipedia, wiki, book, books, library,

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