Haplogroup L0

Source: Wikipedia, the free encyclopedia.
Haplogroup L0
Possible time of origin130 to 200 ka
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.

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)

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

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.
Frequency maps for L0 (total), L0a, L0b, L0d, L0f and L0k

L0 is found most commonly in

!Kung
) 100%.

Haplogroup L0d is found among Khoisan groups of

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

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

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.

  • Most Recent Common Ancestor (MRCA)
    • L0
      • L0d
        • L0d3
        • L0d1'2
          • L0d1
            • L0d1a
            • L0d1b
            • L0d1c
              • L0d1c1
          • L0d2
            • L0d2a'b
              • L0d2a
                • L0d2a1
              • L0d2b
            • L0d2c
      • L0a'b'f'k
        • L0k
          • L0k1
          • L0k2
        • L0a'b'f
          • L0f
            • L0f1
            • L0f2
              • L0f2a
              • L0f2b
          • L0a'b
            • L0a
              • L0a1
                • L0a1a
                  • L0a1a2
                • L0a1b
                  • L0a1b1
                    • L0a1b1a
                  • L0a1b2
                • L0a1c
                • L0a1d
              • L0a2
                • L0a2a
                  • L0a2a1
                    • L0a2a1a
                      • L0a2a1a1
                      • L0a2a1a2
                  • L0a2a2
                    • L0a2a2a
                • L0a2b
                  • L0a2ba
                • L0a2c
                • L0a2d
              • L0a3
              • L0a4
            • L0b

See also

Wikimedia Commons has media related to Haplogroup L0.

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

References

  1. ^ point estimate 168.5 ka (136.3–201.1 ka
    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
    ..
  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. ^
    S2CID 27566749
    .
  4. 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. ^
    S2CID 15391342
    .
  7. ^
    PMID 17656633
    .
  8. ^
    PMID 10739760
    .
  9. ^
    S2CID 52862939
    .
  10. ^
    S2CID 19515426
    .
  11. ^
    PMID 20346436
    .
  12. 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

External links

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