Haplogroup L0 is a

human mitochondrial DNA Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondr ...

(mtDNA) haplogroup.

Origin

L0 is one of two branches from the

most recent common ancestor A most recent common ancestor (MRCA), also known as a last common ancestor (LCA), is the most recent individual from which all organisms of a set are inferred to have descended. The most recent common ancestor of a higher taxon is generally assu ...

(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 Southern Africa is the southernmost region of Africa. No definition is agreed upon, but some groupings include the United Nations geoscheme for Africa, United Nations geoscheme, the intergovernmental Southern African Development Community, and ...

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 The San peoples (also Saan), or Bushmen, are the members of any of the indigenous hunter-gatherer cultures of southern Africa, and the oldest surviving cultures of the region. They are thought to have diverged from other humans 100,000 to 200 ...

, which points to population continuity in the region. In 2016, a

Late Iron Age The Iron Age () is the final epoch of the three historical Metal Ages, after the Chalcolithic and Bronze Age. It has also been considered as the final age of the three-age division starting with prehistory (before recorded history) and progr ...

desiccated mummy from the Tuli region in northern Botswana was also found to belong to haplogroup L0.

Distribution

Interpolation maps for L0 haplogroup total

L0 is found most commonly in

Sub-Saharan Africa Sub-Saharan Africa is the area and regions of the continent of Africa that lie south of the Sahara. These include Central Africa, East Africa, Southern Africa, and West Africa. Geopolitically, in addition to the list of sovereign states and ...

. It reaches its highest frequency in the

Khoisan Khoisan ( ) or () is an Hypernymy and hyponymy, umbrella term for the various Indigenous peoples of Africa, indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the San people, Sān peo ...

people at 73% on average. Some of the highest frequencies are:

Namibia Namibia, officially the Republic of Namibia, is a country on the west coast of Southern Africa. Its borders include the Atlantic Ocean to the west, Angola and Zambia to the north, Botswana to the east and South Africa to the south; in the no ...

( !Xun) 79%,

South Africa South Africa, officially the Republic of South Africa (RSA), is the Southern Africa, southernmost country in Africa. Its Provinces of South Africa, nine provinces are bounded to the south by of coastline that stretches along the Atlantic O ...

( Khwe/!Xun) 83%, and

Botswana Botswana, officially the Republic of Botswana, is a landlocked country in Southern Africa. Botswana is topographically flat, with approximately 70 percent of its territory part of the Kalahari Desert. It is bordered by South Africa to the sou ...

( !Kung) 100%. Haplogroup L0d is found among Khoisan groups of

closer to the Khoid side with (following L0k) being more Sanid but is largely restricted to the Khoisan as a whole. L0d is also commonly found in sections of the

Coloured Coloureds () are multiracial people in South Africa, Namibia and, to a smaller extent, Zimbabwe and Zambia. Their ancestry descends from the interracial mixing that occurred between Europeans, Africans and Asians. Interracial mixing in South ...

population of South Africa and frequencies range from 60% to 71%. 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. 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. Haplogroup L0f is present in relatively small frequencies in

Tanzania Tanzania, officially the United Republic of Tanzania, is a country in East Africa within the African Great Lakes region. It is bordered by Uganda to the northwest; Kenya to the northeast; the Indian Ocean to the east; Mozambique and Malawi to t ...

East Africa East Africa, also known as Eastern Africa or the East of Africa, is a region at the eastern edge of the Africa, African continent, distinguished by its unique geographical, historical, and cultural landscape. Defined in varying scopes, the regi ...

among the

Sandawe people The Sandawe are an indigenous ethnic group of Southeast Africa, based in the Chemba District kwamtoro ward of Dodoma Region in central Tanzania. In 2000, the Sandawe population was estimated to be 40,000. The Sandawe language is a tonal lan ...

of Tanzania. Haplogroup L0a is most prevalent in South-East African populations (25% in

Mozambique Mozambique, officially the Republic of Mozambique, is a country located in Southeast Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi and Zambia to the northwest, Zimbabwe to the west, and Eswatini and South Afr ...

). Among

Guinea Guinea, officially the Republic of Guinea, is a coastal country in West Africa. It borders the Atlantic Ocean to the west, Guinea-Bissau to the northwest, Senegal to the north, Mali to the northeast, Côte d'Ivoire to the southeast, and Sier ...

ns, 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 The Mbuti people, or Bambuti, are one of several indigenous pygmy groups in the Congo region of Africa. Their languages are Central Sudanic languages and Bantu languages. Subgroups Bambuti are pygmy hunter-gatherers, and are one of the oldest ...

and Biaka

Pygmies In anthropology, pygmy peoples are ethnic groups whose average height is unusually short. The term pygmyism is used to describe the phenotype of endemic short stature (as opposed to disproportionate dwarfism occurring in isolated cases in a po ...

. L0a is found at a frequency of almost 25% in

Hadramawt Hadhramaut ( ; ) is a geographic region in the South Arabia, southern part of the Arabian Peninsula which includes the Yemeni Governorates of Yemen, governorates of Hadhramaut, Shabwah Governorate, Shabwah and Al Mahrah Governorate, Mahrah, D ...

(

Yemen Yemen, officially the Republic of Yemen, is a country in West Asia. Located in South Arabia, southern Arabia, it borders Saudi Arabia to Saudi Arabia–Yemen border, the north, Oman to Oman–Yemen border, the northeast, the south-eastern part ...

). Haplogroup L0b is found in

Ethiopia Ethiopia, officially the Federal Democratic Republic of Ethiopia, is a landlocked country located in the Horn of Africa region of East Africa. It shares borders with Eritrea to the north, Djibouti to the northeast, Somalia to the east, Ken ...

Drug and disease interactions

In patients who are given the drug

stavudine Stavudine (d4T), sold under the brand name Zerit among others, is an antiretroviral medication used to prevent and treat HIV/AIDS. It is generally recommended for use with other antiretrovirals. It may be used for prevention after a needlestick ...

to treat

HIV The human immunodeficiency viruses (HIV) are two species of '' Lentivirus'' (a subgroup of retrovirus) that infect humans. Over time, they cause acquired immunodeficiency syndrome (AIDS), a condition in which progressive failure of the im ...

, Haplogroup L0a2 is associated with a higher likelihood of

peripheral neuropathy Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland function, and/or organ function depending on which nerve fibers are affected. Neuropa ...

as a side effect.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

Subclades

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'' 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 *******L0d2c1cFirst Ancient Mitochondrial Human Genome from a Pre-Pastoralist Southern African
/ref> ***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

Origin

Distribution

Drug and disease interactions

Subclades

Tree

See also

References

External links