Macro-haplogroup L

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(Redirected from
Haplogroup L (mtDNA)
)
This article is about the human mtDNA haplogroup. For the human Y-DNA haplogroup, see Haplogroup L-M20.
Haplogroup L
Time of origin230 to 150 kya
L1-6
Overview of the main divisions of haplogroup L.

In

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 are

L1-6 and L0
. The split occurred during the
Eemian
interglacial. L is further subdivided into L1-6 and
L1
, dated ca. 150 kya and 130 kya, respectively. Haplogroups
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

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

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

L3

L4

L5

L6

L7

 L0 

L0d

L0k

L0f

L0a

L0b

Further information:
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

L4 are sister clades of L3, they are found most often in East Africa and West Asia. A new discovery suggests that L4 originated in Euroasia around 74,000 kya and Migrated to Africa. And L6 originated in Yemen around 60,000 kya and Migrated across the bab El mendeb
into Ethiopia.

Undifferentiated L1'2'3'4'5'6 has been found in

interbreeding with Neanderthals before disappearing.[8][9]

Haplogroup

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

L4a
.

L0

Main article: Haplogroup L0

Haplogroup L0 arose between about 200 and 130 kya,[12] that is, at about the same time as

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 than 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]

Pygmies (Baka, Bi-Aka and Ba-Kola).[10][20]
  • Ba-Mbuti Pygmies.[10]
  • Hadza/Sandawe.[10]

    • South Africa

    Haplogroup L reaches 100% in many native

    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

    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

    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
    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

    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

    1. ^ a b c 151.6–233.6 ka
      PMID 19500773
      .
    2. ^ Age estimates (ka, 95% CI in angular brackets): ML whole-mtDNA age estimate: 178.8 [155.6; 202.2], ρ whole-mtDNA age estimate: 185.2 [153.8; 216.9], ρ synonymous age estimate (ka): 174.8 [153.8; 216.9]: Rito, Teresa; Richards, Martin B.; Fernandes, Verónica; Alshamali, Farida; Cerny, Viktor; Pereira, Luísa; Soares, Pedro (2013-11-13). "The First Modern Human Dispersals across Africa". PLOS ONE. 8 (11): e80031.
      PMID 24236171
      .
    3. ^
      PMID 17194802
      .
    4. ^
      PMID 28675384
      .
    5. ^
      PMID 18439549
      .
    6. ^ 166.8+36.7
      −36.1       kya       (Soares et al. 2009).
    7. S2CID 27566749
      .
    8. S2CID 7117454
      .
    9. bioRxiv 10.1101/190363
      .
    10. ^
      PMID 17656633
      .
    11. doi:10.1038/srep12526
    12. PMID 28086175
      . (table 2). 150 ka suggested in:Soares, Pedro; Ermini, Luca; Thomson, Noel; Mormina, Maru; Rito, Teresa; Röhl, Arne; Salas, Antonio; Oppenheimer, Stephen; MacAulay, Vincent (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 740–59.
      PMID 19500773
      ..
    13. ^
      PMID 17194802
      . 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
    14. ^
      S2CID 15391342
      .
    15. ^
      PMID 18269758
      .
    16. PMID 15457403
      .
    17. OCLC 956378078. Archived from the original
      (PDF) on 2011-09-10.
    18. PMID 12395296
      .
    19. PMID 10739760
      .
    20. ^ Quintana, Lluis et al 2003, MtDNA diversity in Central Africa: from hunter-gathering to agriculturalism[full citation needed]
    21. PMID 23885197
      .
    22. S2CID 7022459
      .
    23. PMID 19414164
      .
    24. PMID 18446216
      .
    25. PMID 20459715
      .
    26. PMID 18257024
      .
    27. OCLC 883630158. Archived from the original
      (PDF) on 2 August 2017.
    28. ^
      PMID 17357081
      .
    29. PMID 17331239
      .
    30. S2CID 20901589
      .
    31. PMID 16685727
      .
    32. S2CID 8870699
      .
    33. PMID 20127843
      .
    34. PMID 20127843
      . 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
    35. S2CID 1788055
      .
    36. PMID 26509580
      .
    37. PMID 30710075
      .
    38. PMID 19738982
      .
    39. PMID 19680675
      .
    40. S2CID 13260716
      .
    41. PMID 16648268
      .
    42. PMID 10712213
      .
    43. PMID 17573655
      .
    44. ^
      S2CID 35654242
      .
    45. ^ Caruana, Josef (2016). The Genetic Heritage of the Maltese Islands: A Matrilineal perspective.

    External links

    Wikimedia Commons has media related to Macro-haplogroup L (mtDNA).

    Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

     
    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
    Retrieved from "https://en.wikipedia.org/w/index.php?title=Macro-haplogroup_L&oldid=1209754790"