Haplogroup L0 (mtDNA)

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

Confusingly, some scientists use L0 to refer to an extinct haplogroup, while other scientists have identified haplogroups L0-L6 as existing in living humans^[1].

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As extinct

Some scientists use L0 to refer to an extinct haplogroup. For example, one commercial testing company states, "Another haplogroup, L0, preceded L1, but is long since extinct."^[2] In this model, L1 is considered the haplogroup from which all living humans are descended.

As existing today

Some scientists use L0 to refer to the first offshoot of Mitochondrial Eve, estimated to have lived in Africa approximately 150,000 to 170,000 years ago. Haplogroup L0 consist of four main branches (L0d, L0k, L0a, L0f). All of them were originally classified into haplogroup L1 as L1d, L1k, L1a and L1f.

Haplogroups L0d and L0k are typical for Khoisan tribes in South 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.

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

References

1. ^ For example, Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears states "Because (preHV)1 lineages occur in populations of the Near East, the Caucasus, and Mediterranean Europe—where African L0-L6 lineages are absent or rare—it is more likely that their presence in East Africa reflects a back-migration from the Near East rather than an in situ origin of (preHV)1 in Ethiopia (Richards et al. 2003)."
2. ^ GeneTree Haplogroup Table
3. ^ Rosa, A; Brehm A, Kivisild T, Metspalu E, Villems R (July 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. PMID 1522515.

4. A. Knight et al.: African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages. Current Biology, Vol. 13, 464–473, March 18, 2003, http://www.stanford.edu/~sylpha/Knight_2003.pdf

See also

• Human mitochondrial genetics
• Genealogical DNA test