Haplogroup L0

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Haplogroup L0
Possible time of origin130 to 200 ka [1] [2]
Possible place of origin Southern Africa or Southern East Africa
Ancestor L (Mitochondrial Eve)
DescendantsL0a'b'f'k, L0d
Defining mutations263!, 1048, 3516A, 5442, 6185, 9042, 9347, 10589, 12007, 12720 [3]

Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.

Contents

Origin

The region in Africa where Tishkoff found the greatest level of mitochondrial diversity (green) and the region Behar et al. postulated the most ancient division in the human population began to occur (light brown) InitialExpansionMitogenome.PNG
The region in Africa where Tishkoff found the greatest level of mitochondrial diversity (green) and the region Behar et al. postulated the most ancient division in the human population began to occur (light brown)

L0 is one of two branches from the most recent common ancestor (MRCA) for the shared human maternal lineage. The haplogroup consists of five main branches (L0a, L0b, L0d, L0f, L0k). Four of them were originally classified into L1 subclades, L1a, L1d, L1f and L1k.

In 2014, ancient DNA analysis of a 2,330 year old male forager's skeleton in Southern Africa found that the specimen belonged to the L0d2c1c mtDNA subclade. This maternal haplogroup is today most closely associated with the Ju, a subgroup of the indigenous San people, which points to population continuity in the region. [4] In 2016, a Late Iron Age desiccated mummy from the Tuli region in northern Botswana was also found to belong to haplogroup L0. [5]

MRCA (mtDNA)  
   L0   
 
 
 
 

 L0a

 L0b

 L0f

 L0k

 L0d

  L1-6  
 

L1

 L2-6

Distribution

Projected spatial distribution of haplogroup L0 in Africa. Interpolation maps for L0 haplogroup total.png
Projected spatial distribution of haplogroup L0 in Africa.
Frequency maps for L0 (total), L0a, L0b, L0d, L0f and L0k Frequency maps based on HVS-I data for haplogroups L0, L0a, L0b, L0d, L0f and L0k.png
Frequency maps for L0 (total), L0a, L0b, L0d, L0f and L0k

L0 is found most commonly in Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73% on average. [6] Some of the highest frequencies are: [7] Namibia (!Xun) 79%, South Africa (Khwe/!Xun) 83%, and Botswana (!Kung) 100%.

Haplogroup L0d is found among Khoisan groups of Southern Africa closer to the Khoid side with (following L0k) being more Sanid but is largely restricted to the Khoisan as a whole. [7] [8] [9] [10] L0d is also commonly found in sections of the Coloured population of South Africa and frequencies range from 60% [11] to 71%. [10] This illustrates the massive maternal contribution of Khoisan people to sections of the Coloured population of South Africa.

Haplogroups L0k is the second most common haplogroup in the Khoisan groups closer to the Sanid side with (following L0d) being more Khoid but is largely restricted to the Khoisan as a whole. [7] [8] [9] [10] Although the Khoisan associated L0d haplogroup were found in high frequencies in sections of the Coloured population of South Africa, L0k were not observed in two studies involving large groups of Coloured individuals. [10] [11]

Haplogroup L0f is present in relatively small frequencies in Tanzania, East Africa among the Sandawe people of Tanzania.

Haplogroup L0a is most prevalent in South-East African populations (25% in Mozambique). [6] Among Guineans, it has a frequency between 1% and 5%, with the Balanta group showing increased frequency of about 11%. Haplogroup L0a has a Paleolithic time depth of about 33,000 years and likely reached Guinea between 10,000 and 4,000 years ago. It also is often seen in the Mbuti and Biaka Pygmies. L0a is found at a frequency of almost 25% in Hadramawt (Yemen). [12]

Haplogroup L0b is found in Ethiopia.

Drug and disease interactions

In patients who are given the drug stavudine to treat HIV, Haplogroup L0a2 is associated with a higher likelihood of peripheral neuropathy as a side effect. [13]

Subclades

Tree

Schematic tree of haplogroup L0. MSA: Middle Stone Age, LSA: Later Stone Age, ka: thousand years ago. Schematic tree of haplogroup L0 and the root of the human mtDNA diversity.png
Schematic tree of haplogroup L0. MSA: Middle Stone Age, LSA: Later Stone Age, ka: thousand years ago.

This phylogenetic tree of haplogroup L0 subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [3] and subsequent published research.

See also

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

Related Research Articles

<span class="mw-page-title-main">Khoisan</span> African ethnic group

KhoisanKOY-sahn, or Khoe-Sān, is a catch-all term for those indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the Sān peoples. Khoisan populations speak click languages and are considered to be the historical (pre-Bantu) communities throughout Southern Africa, remaining predominant until European colonisation in areas climatically unfavorable to Bantu (sorghum-based) agriculture, such as the Cape region, through to Namibia, where Khoekhoe populations of Nama and Damara people are prevalent groups, and Botswana. Considerable mingling with Bantu-speaking groups is evidenced by prevalence of click phonemes in many especially Xhosa Southern African Bantu languages.

<span class="mw-page-title-main">Haplogroup X (mtDNA)</span> Human mitochondrial DNA haplogroup

Haplogroup X is a human mitochondrial DNA (mtDNA) haplogroup. It is found in North America, Europe, Western Asia, North Africa, and the Horn of Africa.

Haplogroup J is a human mitochondrial DNA (mtDNA) haplogroup. The clade derives from the haplogroup JT, which also gave rise to haplogroup T. Within the field of medical genetics, certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy.

Haplogroup T is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated around 25,100 years ago in the Near East.

Haplogroup V is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated over 14,000 years ago in Southern Europe.

Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup F is a human mitochondrial DNA (mtDNA) haplogroup. The clade is most common in East Asia and Southeast Asia. It has not been found among Native Americans.

<span class="mw-page-title-main">Haplogroup L3</span> Widespread human mitochondrial DNA grouping indicating common ancestry

Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the early dispersal of anatomically modern humans.

Haplogroup L2 is a human mitochondrial DNA (mtDNA) haplogroup with a widespread modern distribution, particularly in Subequatorial Africa. Its L2a subclade is a somewhat frequent and widely distributed mtDNA cluster on the continent, as well as among those in the Americas.

<span class="mw-page-title-main">Haplogroup L1</span> Human mitochondrial DNA grouping indicating common ancestry

Haplogroup L1 is a human mitochondrial DNA (mtDNA) haplogroup. It is most common in Central Africa and West Africa. It diverged from L1-6 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 African pygmies.

Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated about 21,000 years ago, during the Last Glacial Maximum (LGM) period in West Asia. The haplogroup is unusual in that it is now widely distributed geographically, but is common in only a few small areas of East Africa, West Asia and Europe. It is especially common among the El Molo and Rendille peoples of Kenya, various regions of Iran, the Lemko people of Slovakia, Poland and Ukraine, the island of Krk in Croatia, the department of Finistère in France and some parts of Scotland and Ireland.

<span class="mw-page-title-main">Haplogroup B-M60</span> Human Y chromosome DNA grouping indicating common ancestry

Haplogroup B (M60) is a human Y-chromosome DNA haplogroup common to paternal lineages in Africa. It is a primary branch of the haplogroup BT.

Haplogroup JT is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup Q (mtDNA)</span>

In human mitochondrial genetics, haplogroup Q is a human mitochondrial DNA (mtDNA) haplogroup typical for Oceania. It is a subgroup of haplogroup M29'Q.

In human mitochondrial genetics, Haplogroup G is a human mitochondrial DNA (mtDNA) haplogroup.

In human mitochondrial genetics, the Haplogroup CZ is a human mitochondrial DNA (mtDNA) haplogroup.

<span class="mw-page-title-main">Haplogroup L4</span> African mitochondrial DNA grouping indicating common ancestry

Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa.

Haplogroup L5 is a human mitochondrial DNA (mtDNA) clade. It was previously known as L1e.

In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small African haplogroup.

<span class="mw-page-title-main">Macro-haplogroup L</span>

In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically modern human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed "Mitochondrial Eve".

References

  1. ↑ point estimate 168.5 ka (136.3–201.1 ka 95% CI) according to Heinz, Tanja; et al. (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; 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. doi:10.1016/j.ajhg.2009.05.001. PMC   2694979 . PMID   19500773..
  2. ↑ Age estimates (ka, 95% CI in angular brackets): ML whole-mtDNA age estimate: 128.2 [95% CI: 107.9-148.9], ρ whole-mtDNA age estimate: 121.3 [99.2;143.7], ρ synonymous age estimate (ka): 131.0 [97.8;164.2]: Rito T, Richards MB, Fernandes V, Alshamali F, Cerny V, Pereira L, Soares P., "The first modern human dispersals across Africa", PLoS One 2013 Nov 13; 8(11):e80031. doi: 10.1371/journal.pone.0080031.
  3. 1 2 Van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi: 10.1002/humu.20921 . PMID   18853457. S2CID   27566749.
  4. ↑ Alan G. Morris; Anja Heinze; Eva K.F. Chan; Andrew B. Smith; Vanessa M. Hayes (2014). "First Ancient Mitochondrial Human Genome from a Pre-Pastoralist Southern African". Genome Biology and Evolution. 6 (10): 2647–53. doi:10.1093/gbe/evu202. PMC   4224329 . PMID   25212860.
  5. ↑ Frank J. Rühli; Maryna Steyn; Morongwa N. Mosothwane; Lena Öhrström; Molebogeng K. Bodiba; Abigail Bouwman (January–February 2016). "Radiological and genetic analysis of a Late Iron Age mummy from the Tuli Block, Botswana" (PDF). South African Journal of Science. 112 (1/2). Archived from the original (PDF) on 21 June 2016. Retrieved 26 April 2016.
  6. 1 2 Rosa, Alexandra; Brehm, Antonio; Kivisild, Toomas; Metspalu, Ene; Villems, Richard (2004). "MtDNA Profile of West Africa Guineans: Towards a Better Understanding of the Senegambia Region". Annals of Human Genetics. 68 (4): 340–52. doi:10.1046/j.1529-8817.2004.00100.x. hdl: 10400.13/3044 . PMID   15225159. S2CID   15391342.
  7. 1 2 3 Tishkoff, S. A.; Gonder, M. K.; Henn, B. M.; Mortensen, H.; Knight, A.; Gignoux, C.; Fernandopulle, N.; Lema, G.; Nyambo, T. B. (2007). "History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation". Molecular Biology and Evolution. 24 (10): 2180–95. doi: 10.1093/molbev/msm155 . PMID   17656633.
  8. 1 2 Chen, Yu-Sheng; Olckers, Antonel; Schurr, Theodore G.; Kogelnik, Andreas M.; Huoponen, Kirsi; Wallace, Douglas C. (2000). "MtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations". The American Journal of Human Genetics. 66 (4): 1362–83. doi:10.1086/302848. PMC   1288201 . PMID   10739760.
  9. 1 2 Knight, Alec; Underhill, Peter A.; Mortensen, Holly M.; Zhivotovsky, Lev A.; Lin, Alice A.; Henn, Brenna M.; Louis, Dorothy; Ruhlen, Merritt; Mountain, Joanna L. (2003). "African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages". Current Biology. 13 (6): 464–73. doi: 10.1016/S0960-9822(03)00130-1 . PMID   12646128. S2CID   52862939.
  10. 1 2 3 4 Schlebusch, Carina M.; Naidoo, Thijessen; Soodyall, Himla (2009). "SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa". Electrophoresis. 30 (21): 3657–64. doi:10.1002/elps.200900197. PMID   19810027. S2CID   19515426.
  11. 1 2 Quintana-Murci, Lluis; Harmant, Christine; Quach, Hélène; Balanovsky, Oleg; Zaporozhchenko, Valery; Bormans, Connie; Van Helden, Paul D.; Hoal, Eileen G.; Behar, Doron M. (2010). "Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture". The American Journal of Human Genetics. 86 (4): 611–20. doi:10.1016/j.ajhg.2010.02.014. PMC   2850426 . PMID   20346436.
  12. ↑ Rídl, Jakub; Edens, Christopher M.; Černý, Viktor (2009). "Mitochondrial DNA Structure of Yemeni Population: Regional Differences and the Implications for Different Migratory Contributions". The Evolution of Human Populations in Arabia. Vertebrate Paleobiology and Paleoanthropology. pp. 69–78. doi:10.1007/978-90-481-2719-1_5. ISBN   978-90-481-2718-4.
  13. ↑ Kampira E, Kumwenda J, van Oosterhout JJ, Dandara C. Mitochondrial DNA subhaplogroups L0a2 and L2a modify susceptibility to peripheral neuropathy in malawian adults on stavudine containing highly active antiretroviral therapy., J Acquir Immune Defic Syndr. 2013 Aug 15; 63(5):647-52. doi: 10.1097/QAI.0b013e3182968ea5
  14. ↑ First Ancient Mitochondrial Human Genome from a Pre-Pastoralist Southern African
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