Haplogroup L0 | |
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Possible time of origin | 130 to 200 ka [1] [2] |
Possible place of origin | Southern Africa or Southern East Africa |
Ancestor | L (Mitochondrial Eve) |
Descendants | L0a'b'f'k, L0d |
Defining mutations | 263!, 1048, 3516A, 5442, 6185, 9042, 9347, 10589, 12007, 12720 [3] |
Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.
L0 is one of two branches from the most recent common ancestor (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 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, which points to population continuity in the region. [4] In 2016, a Late Iron Age desiccated mummy from the Tuli region in northern Botswana was also found to belong to haplogroup L0. [5]
MRCA (mtDNA) |
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L0 is found most commonly in Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73% on average. [6] Some of the highest frequencies are: [7] Namibia (!Xun) 79%, South Africa (Khwe/!Xun) 83%, and Botswana (!Kung) 100%.
Haplogroup L0d is found among Khoisan groups of Southern Africa closer to the Khoid side with (following L0k) being more Sanid but is largely restricted to the Khoisan as a whole. [7] [8] [9] [10] L0d is also commonly found in sections of the Coloured population of South Africa and frequencies range from 60% [11] to 71%. [10] 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. [7] [8] [9] [10] 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. [10] [11]
Haplogroup L0f is present in relatively small frequencies in Tanzania, East Africa among the Sandawe people of Tanzania.
Haplogroup L0a is most prevalent in South-East African populations (25% in Mozambique). [6] 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. L0a is found at a frequency of almost 25% in Hadramawt (Yemen). [12]
Haplogroup L0b is found in Ethiopia.
In patients who are given the drug stavudine to treat HIV, Haplogroup L0a2 is associated with a higher likelihood of peripheral neuropathy as a side effect. [13]
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 [3] and subsequent published research.
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 |
KhoisanKOY-sahn, or Khoe-Sān, is a catch-all term for those indigenous peoples of Southern Africa who traditionally speak non-Bantu languages, combining the Khoekhoen and the Sān peoples. Khoisan populations speak click languages and are considered to be the historical (pre-Bantu) communities throughout Southern Africa, remaining predominant until European colonisation in areas climatically unfavorable to Bantu (sorghum-based) agriculture, such as the Cape region, through to Namibia, where Khoekhoe populations of Nama and Damara people are prevalent groups, and Botswana. Considerable mingling with Bantu-speaking groups is evidenced by prevalence of click phonemes in many especially Xhosa Southern African Bantu languages.
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Based on the previous knowledge of African complete sequences paraphyletic clade L1 is split into two monophyletic units L0, capturing previously defined L1a and L1d lineages, and L1 clade that includes L1b and L1c clades…
The first axis of mtDNA, on the other hand, places the ancestral haplogroup L0 at the extreme left, since it gave rise to one sole lineage…
haplogroup L0 mtDNAs, the haplogroup that we had previously concluded lies at the base of the human mtDNA. tree based on phylogenetic analysis…