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. Mitochondri ...

(mtDNA) haplogroup.

Origin

L0 is one of two branches from the

most recent common ancestor In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA) or concestor, of a set of organisms is the most recent individual from which all the organisms of the set are descended. The ...

(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 subregion of the African continent, south of the Congo and Tanzania. The physical location is the large part of Africa to the south of the extensive Congo River basin. Southern Africa is home to a number of ...

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 members of various Khoe, Tuu, or Kxʼa-speaking indigenous hunter-gatherer cultures that are the first cultures of Southern Africa, and whose territories span Botswana, Namibia, Angola, Zambia, ...

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

Late Iron Age The Iron Age is the final epoch of the three-age division of the prehistory and protohistory of humanity. It was preceded by the Stone Age (Paleolithic, Mesolithic, Neolithic) and the Bronze Age (Chalcolithic). The concept has been mostly appl ...

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, geographically, the area and regions of the continent of Africa that lies south of the Sahara. These include West Africa, East Africa, Central Africa, and Southern Africa. Geopolitically, in addition to the List of sov ...

. It reaches its highest frequency in the

Khoisan Khoisan , or (), according to the contemporary Khoekhoegowab orthography, is a catch-all term for those indigenous peoples of Southern Africa who do not speak one of the Bantu languages, combining the (formerly "Khoikhoi") and the or ( in t ...

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

Namibia Namibia (, ), officially the Republic of Namibia, is a country in Southern Africa. Its western border is the Atlantic Ocean. It shares land borders with Zambia and Angola to the north, Botswana to the east and South Africa to the south and ea ...

( !Xun) 79%,

South Africa South Africa, officially the Republic of South Africa (RSA), is the southernmost country in Africa. It is bounded to the south by of coastline that stretch along the South Atlantic and Indian Oceans; to the north by the neighbouring countri ...

(

Khwe Khwe (also rendered ''Kxoe, Khoe'' ) is a dialect continuum of the Khoe family of Namibia, Angola, Botswana, South Africa, and parts of Zambia, with some 8,000 speakers. Classification Khwe is a member of the Khoe language family. The 2000 ...

/!Xun) 83%, and

Botswana Botswana (, ), officially the Republic of Botswana ( tn, Lefatshe la Botswana, label=Setswana, ), is a landlocked country in Southern Africa. Botswana is topographically flat, with approximately 70 percent of its territory being the Kalahar ...

( !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 the

Coloured Coloureds ( af, Kleurlinge or , ) refers to members of multiracial ethnic communities in Southern Africa who may have ancestry from more than one of the various populations inhabiting the region, including African, European, and Asian. South ...

population of South Africa and frequencies range from 60% to 71%. 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 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 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 ( sw, Jamhuri ya Muungano wa Tanzania), is a country in East Africa within the African Great Lakes region. It borders Uganda to the north; Kenya to the northeast; Comoro Islands and ...

East Africa East Africa, Eastern Africa, or East of Africa, is the eastern subregion of the African continent. In the United Nations Statistics Division scheme of geographic regions, 10-11-(16*) territories make up Eastern Africa: Due to the historical ...

among the

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

of Tanzania who are older than the Khoisan. Haplogroup L0a is most prevalent in South-East African populations (25% in

Mozambique Mozambique (), officially the Republic of Mozambique ( pt, Moçambique or , ; ny, Mozambiki; sw, Msumbiji; ts, Muzambhiki), is a country located in southeastern Africa bordered by the Indian Ocean to the east, Tanzania to the north, Malawi ...

). Among

Guinea Guinea ( ),, fuf, 𞤘𞤭𞤲𞤫, italic=no, Gine, wo, Gine, nqo, ߖߌ߬ߣߍ߫, bm, Gine officially the Republic of Guinea (french: République de Guinée), is a coastal country in West Africa. It borders the Atlantic Ocean to the we ...

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 pop ...

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

Hadramawt Hadhramaut ( ar, حَضْرَمَوْتُ \ حَضْرَمُوتُ, Ḥaḍramawt / Ḥaḍramūt; Hadramautic: 𐩢𐩳𐩧𐩣𐩩, ''Ḥḍrmt'') is a region in South Arabia, comprising eastern Yemen, parts of western Oman and southern Saud ...

(

Yemen Yemen (; ar, ٱلْيَمَن, al-Yaman), officially the Republic of Yemen,, ) is a country in Western Asia. It is situated on the southern end of the Arabian Peninsula, and borders Saudi Arabia to the Saudi Arabia–Yemen border, north and ...

). Haplogroup L0b is found in

Ethiopia Ethiopia, , om, Itiyoophiyaa, so, Itoobiya, ti, ኢትዮጵያ, Ítiyop'iya, aa, Itiyoppiya officially the Federal Democratic Republic of Ethiopia, is a landlocked country in the Horn of Africa. It shares borders with Eritrea to the ...

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 immune ...

, Haplogroup L0a2 is associated with a higher likelihood of

peripheral neuropathy Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or or ...

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

References

External links

*General **Ian Logan'
Mitochondrial DNA Site
**Mannis van Oven'
Phylotree
*Haplogroup L0
L0
YFull MTree 1.02.00 (under construction) ** ** ** **{{cite journal , doi=10.1016/S0960-9822(03)00130-1 , title=African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages , year=2003 , last1=Knight , first1=Alec , last2=Underhill , first2=Peter A. , last3=Mortensen , first3=Holly M. , last4=Zhivotovsky , first4=Lev A. , last5=Lin , first5=Alice A. , last6=Henn , first6=Brenna M. , last7=Louis , first7=Dorothy , last8=Ruhlen , first8=Merritt , last9=Mountain , first9=Joanna L. , journal=Current Biology , volume=13 , issue=6 , pages=464–73 , pmid=12646128 , s2cid=52862939 , doi-access=free L0