Haplogroup L1 (mtDNA)

Haplogroup L1
Possible time of origin 107,600–174,300 YBP[1]
Possible place of origin Central Africa
Ancestor L1-6
Descendants L1b, L1c
Defining mutations 3666, 7055, 7389, 13789, 14178, 14560[2]

Haplogroup L1 is a human mitochondrial DNA (mtDNA) haplogroup. It is most common in Central Africa and West Africa.

Origin

Projected spatial distribution of haplogroup L1 in Africa.

Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago. Haplogroup L1 is a daughter of L1-6 and genetic marker changes are 3666, 7055, 7389, 13789, 14178 and 14560.

Although it is typically used to denote a group of lineages found within Africa, L1 is sometimes referred to as haplogroup L1-6. The latter is the macrohaplogroup that includes the majority of Africa-based clades and all haplogroups centered outside of the continent. Haplogroup L1-6 is the macrohaplogroup that includes subclades L1, L2, L4, L5, L6, and also L3, which gave rise to the two non-African haplogroups M and N. Haplogroup L1-6 and its only sibling haplogroup L0 are united by the matrilineal most recent common ancestor, (MRCA) of all living humans, Mitochondrial Eve. The existence of these two lineages, implies that Mitochondrial Eve had at least two daughters, one of whom is the maternal common ancestor of haplogroup L1-6 lineages.

Distribution

Haplogroup L1 is found most commonly in Central Africa and West Africa. It reaches its highest frequency among the Mbenga Pygmies.

Haplogroup L1 has been observed among specimens at the island cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).[3]

An ancient Beaker culture individual at the Camino de las Yeseras in Spain (San Fernando de Henares, Madrid; [I4245 / RISE695] F) has also been found to carry the L1b1a mitochondrial haplogroup.[4]

Subclades

Interpolation maps for haplogroup L1b and L1c.

L1 has two branches:[Note 1]

Tree

This phylogenetic tree of haplogroup L1 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)
    • L1'2'3'4'5'6
      • L1
        • L1b
          • L1b1
            • L1b1a
              • L1b1a1'4
                • L1b1a1
                • L1b1a4
              • L1b1a2
                • L1b1a2a
              • 189
                • L1b1a3
                  • L1b1a3a
                    • L1b1a3a1
              • L1b1a5
              • L1b1a6
              • L1b1b7
        • L1c
          • L1c1'2'4'6
            • L1c1
              • L1c1a
                • L1c1a1
                  • L1c1a1a
                    • L1c1a1a1
                      • L1c1a1a1a
                      • L1c1a1a1b
                        • L1c1a1a1b1
                    • L1c1a1a2
                  • L1c1a1b
                • L1c1a2
                  • L1c1a2a
                    • L1c1a2a1
                    • L1c1a2a2
                  • L1c1a2b
                  • L1c1a2c
              • L1c1b'c'd
                • L1c1b
                • L1c1c'd
                  • L1c1c
                  • L1c1d
            • L1c2'4
              • L1c2
                • L1c2a
                  • L1c2a1
                    • L1c2a1a
                    • L1c2a1b
                  • L1c2a2
                • L1c2b
                  • L1c2b1
                  • L1c2b2
              • L1c4
                • L1c4a
                • L1c4b
            • L1c6
          • L1c3
            • L1c3a
              • L1c3a1
              • L1c3a1a
            • L1c3b'c
              • L1c3b
                • L1c3b1
                  • L1c3b1a
                  • L1c3b1b
                • L1c3b2
              • L1c3c

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

References

  1. ↑ Soares, Pedro; Luca Ermini; Noel Thomson; Maru Mormina; Teresa Rito; Arne Röhl; Antonio Salas; Stephen Oppenheimer; Vincent Macaulay; Martin B. Richards (4 Jun 2009). "Supplemental Data Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 82–93. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  2. 1 2 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. Retrieved 2009-05-20.
  3. ↑ Sirak, Kendra; Frenandes, Daniel; Novak, Mario; Van Gerven, Dennis; Pinhasi, Ron (2016). Abstract Book of the IUAES Inter-Congress 2016 - A community divided? Revealing the community genome(s) of Medieval Kulubnarti using next- generation sequencing. IUAES.
  4. ↑ Iñigo Olalde et al. The Beaker Phenomenon And The Genomic Transformation Of Northwest Europe, 2017
  5. ↑ Rosa, Alexandra et al. (2004). "MtDNA profile of West Africa Guineans: towards a better understanding of the Senegambia region" (PDF). Annals of Human Genetics. 68 (4): 344. doi:10.1046/j.1529-8817.2004.00100.x. Retrieved 5 June 2017.
  6. 1 2 Quintana-Murci et al. 2008. Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter–gatherers and Bantu-speaking farmers 'Proceedings of the National Academy of Sciences of the United States of America'. 105(5): 1599
  7. ↑ 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
  8. ↑ Lluis Quintana-Murci et al. MtDNA diversity in Central Africa: from hunter-gathering to agriculturalism. CNRS-Institut Pasteur, Paris
  9. ↑ Batini, Chiara et al 2006, Phylogeography of the human mitochondrial L1c haplogroup: Genetic signatures of the prehistory of Central Africa

Notes

  1. ↑ The formerly named L1 branches (L1d, L1k, L1a, L1f) have been re-classified into haplogroup L0 as L0d, L0k, L0a and L0f.
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