In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe.
The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships.
The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve.
This phylogenetic tree is based on the Van Oven 2009 tree and subsequent published research.
- L (Mitochondrial Eve)
Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups
|Mitochondrial Eve (L)|
Chronological development of haplogroups
Haplogroups present in Europe
While Bryan Sykes claimed there were seven "daughters" – or major mitochondrial lineages – among modern Europeans (H, J, K, T, V, X and U - essentially subclade U5), other scientists put the number at 10–12 - for instance, Richards et al include I, W and N1b within their pan-european survey (but - illustrating how complex the question can be - also separate out pre-V, HV1 and pre-HV1, and separate out U to include U1, U2, U3, U4 and U7 as well as U5).  The additional "daughters" are generally said to include haplogroups I, M and W. A 2012 paper suggested that the haplogroups most common in modern European populations were: H, J, K, N1, T, U4, U5, V, X and W.
Since a single mutation may define a haplogroup, the total number of "European mtDNA haplogroups" – even if they are defined only as those mentioned above and their descendant clades – is ultimately subjective, could theoretically number in the millions, and be continually increasing.
|Haplogroup||Possible time of origin||Possible place of origin||Highest frequencies|
|N||75,000 years ago||Western Asia, or India|
|R||70,000 years ago||Western Asia or India|
|U||60,000 years ago||North-East Africa or India (South Asia)|
|pre-JT||55,000 years ago||Middle East|
|JT||50,000 years ago||Middle East|
|U5||50,000 years ago||Western Asia|
|U6||50,000 years ago||North Africa|
|U8||50,000 years ago||Western Asia|
|pre-HV||50,000 years ago||Near East|
|J||45,000 years ago||India or Near East or Caucasus|
|HV||40,000 years ago||Near East|
|H||over 35,000 years ago||Western Asia|
|X||over 30,000 years ago||north-east Europe|
|U5a1||30,000 years ago||Europe|
|I||30,000 years ago||Caucasus or north-east Europe|
|J1a||27,000 years ago||Near East|
|W||25,000 years ago||north-east Europe or north-west Asia|
|U4||25,000 years ago||Central Asia|
|J1b||23,000 years ago||Near East|
|T||17,000 years ago||Mesopotamia|
|K||16,000 years ago||Near East|
|V||15,000 years ago||North-West Africa (Iberomaurisian) and moved to Iberia and Scandinavia|
|H1b||13,000 years ago||Europe|
|K1||12,000 years ago||Near East|
|H3||10,000 years ago||Western Europe (Spain)|
Haplogroups present in Africa
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M42a, M42c, M14, M15, Q, S, O, N, P. (Refs 1,2,3,4,5,6)
M sub groups that are currently identified as specific to Australia are M42a, M42c, M14 and M15. Also Q1, Q1b, Q3a1 in northern Australia (Q is a major sub division of M also found in New Guinea.
N sub-groups are S, O (Australia).
R (itself derived from N) : P N: S & O. S: Haplogroup S has a wide distribution in Australia and has several major subclades, S1, S1a, S1b, S1b1, S1b2, S1b3, S2, S2a, S2b, S3, S4. The ancient matriline, called S1a has been characterised by complete and partial mt genomes in New South Wales, central, western, south Australia, Northern Territory (Refs)and in Tasmania by partial sequences (ref 8) O haplogroup: O1, O2 identified by complete mt genome have been identified in southern, northern and western Australia.
Widespread in PNG, Timor (Ref 7), northern and eastern Australia. The Darling River region of NSW has a distinctive sub-clade called
P4b (now called P11), further diversified by into several distinct but culturally connected family lineages (van Holst Pellekaan 2011) and 2013.
- van Holst Pellekaan, S.M., Ingman, M., Roberts-Thomson, J., & Harding, R. M. 2006. Mitochondrial genomics identifies major haplogroups in Aboriginal Australians. American J Physical Anthropology. 131:282-294.
- van Holst Pellekaan, S., 2011. Genetic evidence for the colonization of Australia, Quaternary International.doi:10.1016/j.quaint.2011.04.014.
- van Holst Pellekaan, Sheila M (March 2013) Origins of the Australian and New Guinean Aborigines. In: eLS 2013, John Wiley & Sons Ltd: Chichester http://www.els.net
- Nano Nagle1, Mannis van Oven2, Stephen Wilcox3, Sheila van Holst Pellekaan4,5, Chris Tyler-Smith6, Yali Xue6, Kaye N. Ballantyne2,7, Leah Wilcox1, Luka Papac1, Karen Cooke1, Roland A. H. van Oorschot7, Peter McAllister8, Lesley Williams9, Manfred Kayser2, R. John Mitchell1 & The Genographic Consortium#. Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity. Scientific Reports | 7:43041 | DOI: 10.1038/srep43041
- Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K. E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., Kivisild, T., Zhai, W., Eriksson, A., Manica, A., Orlando, L., De La Vega, F. M., Tridico, S., Metspalu, E., Nielsen, K., Avila-Arcos, M. C., Moreno-Mayar, J. V., Muller, C., Dortch, J., Gilbert, M. T., Lund, O., Wesolowska, A., Karmin, M., Weinert, L. A., Wang, B., Li, J., Tai, S., Xiao, F., Hanihara, T., Van Driem, G., Jha, A. R., Ricaut, F. X., De Knijff, P., Migliano, A. B., Gallego Romero, I., Kristiansen, K., Lambert, D. M., Brunak, S., Forster, P., Brinkmann, B., Nehlich, O., Bunce, M., Richards, M., Gupta, R., Bustamante, C. D., Krogh, A., Foley, R. A., Lahr, M. M., Balloux, F., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Wang, J. & Willerslev, E. 2011. An Aboriginal Australian genome reveals separate human dispersals into Asia. Science, 334, 94-8.
- Ray Tobler1*, Adam Rohrlach2,3*, Julien Soubrier1,4, Pere Bover1, Bastien Llamas1, Jonathan Tuke2,3, Nigel Bean2,3, Ali Abdullah-Highfold5, Shane Agius5, Amy O’Donoghue5, Isabel O’Loughlin5, Peter Sutton5,6, Fran Zilio5, Keryn Walshe5, Alan N. Williams7, Chris S.M. Turney7, Matthew Williams1,8, Stephen M. Richards1, Robert J. Mitchell9, Emma Kowal10, John R. Stephen11, Lesley Williams12, Wolfgang Haak1,13§ & Alan Cooper1,14§ Aboriginal mitogenomes reveal 50,000 years of regionalism in Australia doi:10.1038/nature21416
- Gomes, S. M., Bodner, M., Souto, L., Zimmermann, B., Huber, G., Strobl, C., Röck, A. W., Achilli, A., Olivieri, A., Torroni, A., Côrte-Real, F. & Parson, W. 2015. Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity. BMC Genomics, 16.
- Ref: Presser JC, Deverell AJ, Redd A, and Stoneking M. 2002.Tasmanian Aborigines and DNA. Papers and Proceedings of the Royal Society of Tasmania, 136:35-38).
- Hudjashov, G., Kivisild, T., Underhill, P. A., Endicott, P., Sanchez, J. J., Lin, A. A., Shen, P., Oefner, P., Renfrew, C., Villems, R. & Forster, P. 2007. Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. Proc Natl Acad Sci U S A, 104, 8726-30.
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F, C, W, M, D, N, K, U, T, A, B, C, Z, U many number variants to each section
- Rishishwar L, Jordan IK (2017). "Implications of human evolution and admixture for mitochondrial replacement therapy". BMC Genomics. 18 (1): 140. doi:10.1186/s12864-017-3539-3. PMC 5299762. PMID 28178941.
- Loogvali, Eva-Liis; Kivisild, Toomas; Margus, Tõnu; Villems, Richard (2009), O'Rourke, Dennis, ed., "Explaining the Imperfection of the Molecular Clock of Hominid Mitochondria", PLoS ONE, 4 (12): e8260, doi:10.1371/journal.pone.0008260, PMC 2794369, PMID 20041137
- Kivisild T (2015). "Maternal ancestry and population history from whole mitochondrial genomes". Investig Genet. 6: 3. doi:10.1186/s13323-015-0022-2. PMC 4367903. PMID 25798216.
- van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457.
- The Seven Daughters of Eve: The Science That Reveals Our Genetic Ancestry, W.W. Norton, 17 May 2002, hardcover, 306 pages, ISBN 0-393-02018-5
- Richards, Martin; Macaulay, Vincent; Torroni, Antonio; Bandelt, Hans-Jürgen (November 2002). "In Search of Geographical Patterns in European Mitochondrial DNA". The American Journal of Human Genetics. 71 (5): 1168–1174. doi:10.1086/342930. PMC 385092. PMID 12355353.
- "Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA haplogroup H in Eurasia"
|Wikimedia Commons has media related to Human mtDNA haplogroups.|
- Mitochondrial phylogenetic trees
- Mannis van Oven's PhyloTree.org
- PhyloD3 - D3.js-based phylogenetic tree based on PhyloTree
- Mitochondrial haplogroup skeleton
- MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations
- HaploGrep: mtDNA haplogroup determination based on PhyloTree.org
- HaploFind - fast automatic haplogroup assignment pipeline for human mitochondrial DNA