The region in Africa where Tishkoff found the greatest level of mitochondrial diversity (green) and the region Behar et al. postulated the most ancient division in the human population began to occur (light brown)
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]
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 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 BiakaPygmies. L0a is found at a frequency of almost 25% in Hadramawt (Yemen).[12]
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.
^ point estimate 168.5 ka (136.3–201.1 ka 95% CI) according to Heinz, Tanja; et al. (2017). "Updating the African human mitochondrial DNA tree: Relevance to forensic and population genetics". Forensic Science International: Genetics. 27: 156–159. doi:10.1016/j.fsigen.2016.12.016. PMID 28086175. (table 2). 150 ka suggested in:Soares, Pedro; Ermini, Luca; Thomson, Noel; Mormina, Maru; Rito, Teresa; Röhl, Arne; Salas, Antonio; Oppenheimer, Stephen; MacAulay, Vincent (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC2694979. PMID 19500773..
^ Age estimates (ka, 95% CI in angular brackets): ML whole-mtDNA age estimate: 128.2 [95% CI: 107.9-148.9], ρ whole-mtDNA age estimate: 121.3 [99.2;143.7], ρ synonymous age estimate (ka): 131.0 [97.8;164.2]: Rito T, Richards MB, Fernandes V, Alshamali F, Cerny V, Pereira L, Soares P., "The first modern human dispersals across Africa", PLoS One 2013 Nov 13; 8(11):e80031. doi: 10.1371/journal.pone.0080031.
^ abVan Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
^Alan G. Morris; Anja Heinze; Eva K.F. Chan; Andrew B. Smith; Vanessa M. Hayes (2014). "First Ancient Mitochondrial Human Genome from a Pre-Pastoralist Southern African". Genome Biology and Evolution. 6 (10): 2647–53. doi:10.1093/gbe/evu202. PMC4224329. PMID 25212860.
^Frank J. Rühli; Maryna Steyn; Morongwa N. Mosothwane; Lena Öhrström; Molebogeng K. Bodiba; Abigail Bouwman (January–February 2016). (PDF). South African Journal of Science. 112 (1/2). Archived from the original (PDF) on 21 June 2016. Retrieved 26 April 2016.
^ abRosa, Alexandra; Brehm, Antonio; Kivisild, Toomas; Metspalu, Ene; Villems, Richard (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. hdl:10400.13/3044. PMID 15225159. S2CID 15391342.
^ abcTishkoff, S. A.; Gonder, M. K.; Henn, B. M.; Mortensen, H.; Knight, A.; Gignoux, C.; Fernandopulle, N.; Lema, G.; Nyambo, T. B. (2007). "History of Click-Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation". Molecular Biology and Evolution. 24 (10): 2180–95. doi:10.1093/molbev/msm155. PMID 17656633.
^ abChen, Yu-Sheng; Olckers, Antonel; Schurr, Theodore G.; Kogelnik, Andreas M.; Huoponen, Kirsi; Wallace, Douglas C. (2000). "MtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations". The American Journal of Human Genetics. 66 (4): 1362–83. doi:10.1086/302848. PMC1288201. PMID 10739760.
^ abKnight, Alec; Underhill, Peter A.; Mortensen, Holly M.; Zhivotovsky, Lev A.; Lin, Alice A.; Henn, Brenna M.; Louis, Dorothy; Ruhlen, Merritt; Mountain, Joanna L. (2003). "African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages". Current Biology. 13 (6): 464–73. doi:10.1016/S0960-9822(03)00130-1. PMID 12646128. S2CID 52862939.
^ abcdSchlebusch, Carina M.; Naidoo, Thijessen; Soodyall, Himla (2009). "SNaPshot minisequencing to resolve mitochondrial macro-haplogroups found in Africa". Electrophoresis. 30 (21): 3657–64. doi:10.1002/elps.200900197. PMID 19810027. S2CID 19515426.
^ abQuintana-Murci, Lluis; Harmant, Christine; Quach, Hélène; Balanovsky, Oleg; Zaporozhchenko, Valery; Bormans, Connie; Van Helden, Paul D.; Hoal, Eileen G.; Behar, Doron M. (2010). "Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture". The American Journal of Human Genetics. 86 (4): 611–20. doi:10.1016/j.ajhg.2010.02.014. PMC2850426. PMID 20346436.
^Rídl, Jakub; Edens, Christopher M.; Černý, Viktor (2009). "Mitochondrial DNA Structure of Yemeni Population: Regional Differences and the Implications for Different Migratory Contributions". The Evolution of Human Populations in Arabia. Vertebrate Paleobiology and Paleoanthropology. pp. 69–78. doi:10.1007/978-90-481-2719-1_5. ISBN978-90-481-2718-4.
^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
Rosa, Alexandra; Brehm, Antonio; Kivisild, Toomas; Metspalu, Ene; Villems, Richard (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. hdl:10400.13/3044. PMID 15225159. S2CID 15391342. 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…
Pavesi, A. (2005). "Utility of JC polyomavirus in tracing the pattern of human migrations dating to prehistoric times". Journal of General Virology. 86 (5): 1315–26. doi:10.1099/vir.0.80650-0. PMID 15831942. 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…
Mishmar, Dan; Ruiz-Pesini, Eduardo; Brandon, Martin; Wallace, Douglas C. (2004). "Mitochondrial DNA-like sequences in the nucleus (NUMTs): Insights into our African origins and the mechanism of foreign DNA integration". Human Mutation. 23 (2): 125–33. doi:10.1002/humu.10304. PMID 14722916. S2CID 25109836. haplogroup L0 mtDNAs, the haplogroup that we had previously concluded lies at the base of the human mtDNA. tree based on phylogenetic analysis…
Knight, Alec; Underhill, Peter A.; Mortensen, Holly M.; Zhivotovsky, Lev A.; Lin, Alice A.; Henn, Brenna M.; Louis, Dorothy; Ruhlen, Merritt; Mountain, Joanna L. (2003). "African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages". Current Biology. 13 (6): 464–73. doi:10.1016/S0960-9822(03)00130-1. PMID 12646128. S2CID 52862939.
February 16, 2024
haplogroup, human, mitochondrial, mtdna, haplogroup, possible, time, origin130, possible, place, originsouthern, africa, southern, east, africaancestorl, mitochondrial, descendantsl0a, l0ddefining, mutations263, 1048, 3516a, 5442, 6185, 9042, 9347, 10589, 1200. Haplogroup L0 is a human mitochondrial DNA mtDNA haplogroup Haplogroup L0Possible time of origin130 to 200 ka 1 2 Possible place of originSouthern Africa or Southern East AfricaAncestorL Mitochondrial Eve DescendantsL0a b f k L0dDefining mutations263 1048 3516A 5442 6185 9042 9347 10589 12007 12720 3 Contents 1 Origin 2 Distribution 3 Drug and disease interactions 4 Subclades 4 1 Tree 5 See also 6 References 7 External linksOrigin edit nbsp The region in Africa where Tishkoff found the greatest level of mitochondrial diversity green and the region Behar et al postulated the most ancient division in the human population began to occur light brown 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 L0 L0a L0b L0f L0k L0d L1 6 L1 L2 6Distribution edit nbsp Projected spatial distribution of haplogroup L0 in Africa nbsp Frequency maps for L0 total L0a L0b L0d L0f and L0kL0 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 Drug and disease interactions editIn 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 Subclades editTree edit nbsp Schematic tree of haplogroup L0 MSA Middle Stone Age LSA Later Stone Age ka thousand years ago 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 Most Recent Common Ancestor MRCA L0 L0d L0d3 L0d1 2 L0d1 L0d1a L0d1b L0d1c L0d1c1 L0d2 L0d2a b L0d2a L0d2a1 L0d2b L0d2c L0d2c1c 14 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 L0bSee also edit nbsp Wikimedia Commons has media related to Haplogroup L0 Genealogical DNA test Genetic genealogy Human mitochondrial genetics Population genetics Human mitochondrial DNA haplogroupsPhylogenetic tree of human mitochondrial DNA mtDNA haplogroups Mitochondrial Eve L L0 L1 6 L1 L2 L3 L4 L5 L6M N CZ D E G Q O A S R I W X YC Z B F R0 pre JT P UHV JT KH V J TReferences edit point estimate 168 5 ka 136 3 201 1 ka 95 CI according to Heinz Tanja et al 2017 Updating the African human mitochondrial DNA tree Relevance to forensic and population genetics Forensic Science International Genetics 27 156 159 doi 10 1016 j fsigen 2016 12 016 PMID 28086175 table 2 150 ka suggested in Soares Pedro Ermini Luca Thomson Noel Mormina Maru Rito Teresa Rohl Arne Salas Antonio Oppenheimer Stephen MacAulay Vincent 2009 Correcting for Purifying Selection An Improved Human Mitochondrial Molecular Clock The American Journal of Human Genetics 84 6 740 59 doi 10 1016 j ajhg 2009 05 001 PMC 2694979 PMID 19500773 Age estimates ka 95 CI in angular brackets ML whole mtDNA age estimate 128 2 95 CI 107 9 148 9 r whole mtDNA age estimate 121 3 99 2 143 7 r synonymous age estimate ka 131 0 97 8 164 2 Rito T Richards MB Fernandes V Alshamali F Cerny V Pereira L Soares P The first modern human dispersals across Africa PLoS One 2013 Nov 13 8 11 e80031 doi 10 1371 journal pone 0080031 a b Van Oven Mannis Kayser Manfred 2009 Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation Human Mutation 30 2 E386 94 doi 10 1002 humu 20921 PMID 18853457 S2CID 27566749 Alan G Morris Anja Heinze Eva K F Chan Andrew B Smith Vanessa M Hayes 2014 First Ancient Mitochondrial Human Genome from a Pre Pastoralist Southern African Genome Biology and Evolution 6 10 2647 53 doi 10 1093 gbe evu202 PMC 4224329 PMID 25212860 Frank J Ruhli Maryna Steyn Morongwa N Mosothwane Lena Ohrstrom Molebogeng K Bodiba Abigail Bouwman January February 2016 Radiological and genetic analysis of a Late Iron Age mummy from the Tuli Block Botswana PDF South African Journal of Science 112 1 2 Archived from the original PDF on 21 June 2016 Retrieved 26 April 2016 a b Rosa Alexandra Brehm Antonio Kivisild Toomas Metspalu Ene Villems Richard 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 hdl 10400 13 3044 PMID 15225159 S2CID 15391342 a b c Tishkoff S A Gonder M K Henn B M Mortensen H Knight A Gignoux C Fernandopulle N Lema G Nyambo T B 2007 History of Click Speaking Populations of Africa Inferred from mtDNA and Y Chromosome Genetic Variation Molecular Biology and Evolution 24 10 2180 95 doi 10 1093 molbev msm155 PMID 17656633 a b Chen Yu Sheng Olckers Antonel Schurr Theodore G Kogelnik Andreas M Huoponen Kirsi Wallace Douglas C 2000 MtDNA Variation in the South African Kung and Khwe and Their Genetic Relationships to Other African Populations The American Journal of Human Genetics 66 4 1362 83 doi 10 1086 302848 PMC 1288201 PMID 10739760 a b Knight Alec Underhill Peter A Mortensen Holly M Zhivotovsky Lev A Lin Alice A Henn Brenna M Louis Dorothy Ruhlen Merritt Mountain Joanna L 2003 African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages Current Biology 13 6 464 73 doi 10 1016 S0960 9822 03 00130 1 PMID 12646128 S2CID 52862939 a b c d Schlebusch Carina M Naidoo Thijessen Soodyall Himla 2009 SNaPshot minisequencing to resolve mitochondrial macro haplogroups found in Africa Electrophoresis 30 21 3657 64 doi 10 1002 elps 200900197 PMID 19810027 S2CID 19515426 a b Quintana Murci Lluis Harmant Christine Quach Helene Balanovsky Oleg Zaporozhchenko Valery Bormans Connie Van Helden Paul D Hoal Eileen G Behar Doron M 2010 Strong Maternal Khoisan Contribution to the South African Coloured Population A Case of Gender Biased Admixture The American Journal of Human Genetics 86 4 611 20 doi 10 1016 j ajhg 2010 02 014 PMC 2850426 PMID 20346436 Ridl Jakub Edens Christopher M Cerny Viktor 2009 Mitochondrial DNA Structure of Yemeni Population Regional Differences and the Implications for Different Migratory Contributions The Evolution of Human Populations in Arabia Vertebrate Paleobiology and Paleoanthropology pp 69 78 doi 10 1007 978 90 481 2719 1 5 ISBN 978 90 481 2718 4 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 First Ancient Mitochondrial Human Genome from a Pre Pastoralist Southern AfricanExternal links editGeneral Ian Logan s Mitochondrial DNA Site Mannis van Oven s Phylotree Haplogroup L0 L0 YFull MTree 1 02 00 under construction Rosa Alexandra Brehm Antonio Kivisild Toomas Metspalu Ene Villems Richard 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 hdl 10400 13 3044 PMID 15225159 S2CID 15391342 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 Pavesi A 2005 Utility of JC polyomavirus in tracing the pattern of human migrations dating to prehistoric times Journal of General Virology 86 5 1315 26 doi 10 1099 vir 0 80650 0 PMID 15831942 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 Mishmar Dan Ruiz Pesini Eduardo Brandon Martin Wallace Douglas C 2004 Mitochondrial DNA like sequences in the nucleus NUMTs Insights into our African origins and the mechanism of foreign DNA integration Human Mutation 23 2 125 33 doi 10 1002 humu 10304 PMID 14722916 S2CID 25109836 haplogroup L0 mtDNAs the haplogroup that we had previously concluded lies at the base of the human mtDNA tree based on phylogenetic analysis Knight Alec Underhill Peter A Mortensen Holly M Zhivotovsky Lev A Lin Alice A Henn Brenna M Louis Dorothy Ruhlen Merritt Mountain Joanna L 2003 African Y Chromosome and mtDNA Divergence Provides Insight into the History of Click Languages Current Biology 13 6 464 73 doi 10 1016 S0960 9822 03 00130 1 PMID 12646128 S2CID 52862939 Retrieved from https en wikipedia org w index php title Haplogroup L0 amp oldid 1184211628, wikipedia, wiki, book, books, library,
