Haplogroup L0 (mtDNA)

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Haplogroup L0
Possible time of origin 112,200 to 188,000 YBP[1]
Possible place of origin East Africa
Ancestor Mitochondrial Eve
Descendants L0a'b'f'k, L0d
Defining mutations 263!, 1048, 3516A, 5442, 6185, 9042, 9347, 10589, 12007, 12720[2]

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

Contents

[edit] 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. This ancestor is estimated to have lived in East Africa approximately 150,000 to 170,000 years ago.[citation needed] Haplogroup L0 consists of five main branches (L0a, L0b, L0d, L0f, L0k). Four of them were originally classified into haplogroup L1 as L1a, L1d, L1f, and L1k.

MRCA (mtDNA) 
   L0   
 
 
 
 

 L0a


 L0b



 L0f



 L0k



 L0d


 L1-6 
 

L1


 L2-6



[edit] Distribution

It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%.[3] Some of the higher frequencies are: [4] Namibia (!Xun) 79%, South Africa (Khwe/!Xun) 83% and Botswana (!Kung) 100%.


Haplogroup L0d is the most divergent ("ancient") haplogroup of global mitochondrial DNA haplogroups. It is found at highest frequencies in the Khoisan groups of Southern Africa.[5] [6] [7] [8] L0d is also commonly found in the Coloured population of South Africa and frequencies range from 60% [9] to 71%.[10] This illustrates the massive maternal contribution of Khoisan people to the Coloured population of South Africa.

Haplogroups L0k is the second most common haplogroup in the Khoisan groups (following L0d) and is largely restricted to the Khoisan.[11] [12] [13] [14] Interestingly, while the Khoisan associated L0d haplogroup were found in high frequencies in the Coloured population of South Africa, L0k were not observed in two studies involving large groups of Coloured individuals.[15] [16]

Haplogroup L0f is present in relatively small frequencies in Tanzania, East Africa.

Haplogroup L0a is most prevalent in South-East African populations (25% in Mozambique).[3] 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.

Haplogroup L0b Ethiopia.

[edit] Subclades

[edit] Tree

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[2] 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

[edit] References

  1. ^ Soares, Pedro; Luca Ermini, Noel Thomson, Maru Mormina, Teresa Rito, Arne Röhl, Antonio Salas, Stephen Oppenheimer, Vincent Macaulay and Martin B. Richards (04 Jun 2009). "Supplemental Data Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Society of Human Genetics 84 (6): 82–93. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773. http://www.cell.com/AJHG/abstract/S0002-9297(09)00163-3. Retrieved 2009-08-13. 
  2. ^ a b 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. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved 2009-05-20. 
  3. ^ a b Rosa, A. et al. 2004 July. "MtDNA Profile of West Africa Guineans: Towards a Better Understanding of the Senegambia Region", "Annals of Human Genetics", 68(Pt 4): 344
  4. ^ Sarah A. Tishkoff et al. 2007, History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation. Molecular Biology and Evolution 2007 24(10):2180-2195
  5. ^ Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K and Wallace DC (2000). mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. American Journal of Human Genetics 66: 1362-83. http://www.cell.com/AJHG/abstract/S0002-9297%2807%2960163-3.
  6. ^ Knight A, Underhill PA, Mortensen HM, Zhivotovsky LA, Lin AA, Henn BM, Louis D, et al., (2003). African Y chromosome and mtDNA divergence provides insight into the history of click languages. Currernt Biology 13: 464-73. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6VRT-4861XN1-K&_user=651519&_coverDate=03%2F18%2F2003&_rdoc=1&_fmt=high&_orig=search&_origin=search&_sort=d&_docanchor=&view=c&_acct=C000035158&_version=1&_urlVersion=0&_userid=651519&md5=fcf655ba8845f4d253de79f208d31dba&searchtype=a.
  7. ^ Tishkoff SA, Gonder MK, Henn BM, Mortensen H, Knight A, Gignoux C, Fernandopulle N, et al., (2007). History of click-speaking populations of Africa inferred from mtDNA and Y chromosome genetic variation. Molecular Biology and Evolution 24: 2180-95. http://mbe.oxfordjournals.org/content/24/10/2180.abstract.
  8. ^ Schlebusch CM, Naidoo T and Soodyall H (2009). SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa. Electrophoresis 30: 3657-64. http://onlinelibrary.wiley.com/doi/10.1002/elps.200900197/abstract.
  9. ^ Quintana-Murci L, Harmant C, Quach H, Balanovsky O, Zaporozhchenko V, Bormans C, van Helden PD, et al., (2010). Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture. American Journal of Human Genetics 86: 611-20. http://www.cell.com/AJHG/abstract/S0002-9297%2810%2900096-0.
  10. ^ Schlebusch CM, Naidoo T and Soodyall H (2009). SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa. Electrophoresis 30: 3657-64. http://onlinelibrary.wiley.com/doi/10.1002/elps.200900197/abstract.
  11. ^ Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K and Wallace DC (2000). mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. American Journal of Human Genetics 66: 1362-83. http://www.cell.com/AJHG/abstract/S0002-9297%2807%2960163-3.
  12. ^ Knight A, Underhill PA, Mortensen HM, Zhivotovsky LA, Lin AA, Henn BM, Louis D, et al., (2003). African Y chromosome and mtDNA divergence provides insight into the history of click languages. Currernt Biology 13: 464-73. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6VRT-4861XN1-K&_user=651519&_coverDate=03%2F18%2F2003&_rdoc=1&_fmt=high&_orig=search&_origin=search&_sort=d&_docanchor=&view=c&_acct=C000035158&_version=1&_urlVersion=0&_userid=651519&md5=fcf655ba8845f4d253de79f208d31dba&searchtype=a.
  13. ^ Tishkoff SA, Gonder MK, Henn BM, Mortensen H, Knight A, Gignoux C, Fernandopulle N, et al., (2007). History of click-speaking populations of Africa inferred from mtDNA and Y chromosome genetic variation. Molecular Biology and Evolution 24: 2180-95. http://mbe.oxfordjournals.org/content/24/10/2180.abstract.
  14. ^ Schlebusch CM, Naidoo T and Soodyall H (2009). SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa. Electrophoresis 30: 3657-64. http://onlinelibrary.wiley.com/doi/10.1002/elps.200900197/abstract.
  15. ^ Quintana-Murci L, Harmant C, Quach H, Balanovsky O, Zaporozhchenko V, Bormans C, van Helden PD, et al., (2010). Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture. American Journal of Human Genetics 86: 611-20. http://www.cell.com/AJHG/abstract/S0002-9297%2810%2900096-0.
  16. ^ Schlebusch CM, Naidoo T and Soodyall H (2009). SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa. Electrophoresis 30: 3657-64. http://onlinelibrary.wiley.com/doi/10.1002/elps.200900197/abstract.

[edit] See also

Evolutionary 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   A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T

[edit] External links


Stub icon This genetics article is a stub. You can help Wikipedia by expanding it.
Stub icon 1 Stub icon 2 This bioinformatics-related article is a stub. You can help Wikipedia by expanding it.
Retrieved from "http://en.wikipedia.org/w/index.php?title=Haplogroup_L0_(mtDNA)&oldid=478590837"
Personal tools
Namespaces

Variants
Actions
Navigation
Interaction
Toolbox
Print/export
Languages