Haplogroup K (mtDNA)
|Possible time of origin||26,700 ± 4,300 years ago|
|Possible place of origin||Possibly West Asia|
|Defining mutations||3480 10550 11299 14798 16224 16311|
Haplogroup K is believed to have originated in the mid-Upper Paleolithic, between about 30,000 and 22,000 years ago. It is the most common subclade of haplogroup U8b. with an estimated age of c. 12,000 years BP.
Overall the mtDNA haplogroup K is found in about 6% of the population of Europe and the Near East, but it is more common in certain of these populations. Approximately 16% of the Druze of Syria, Lebanon, Israel, and Jordan, belong to haplogroup K. It is also found among 8% of Palestinians. Additionally, K reaches a level of 17% in Kurdistan.
Approximately 32% of people with Ashkenazi Jewish ancestry are in haplogroup K. This high percentage points to a genetic bottleneck occurring some 100 generations ago. Ashkenazi mtDNA K clusters into three subclades seldom found in non-Jews: K1a1b1a, K1a9, and K2a2a. Thus it is possible to detect three individual female ancestors, who were thought to be from a Hebrew/Levantine mtDNA pool, whose descendants lived in Europe. A 2013 study however suggests these clades to instead originate from Western Europe.
Except for Ashkenazim, K appears to be highest in the Morbihan (17.5%) and Périgord-Limousin (15.3%) regions of France, and in Norway and Bulgaria (13.3%). The level is 12.5% in Belgium, 11% in Georgia and 10% in Austria and Great Britain.
Haplogroup K is also found among Gurage (10%), Syrians (9.1%), Afar (6.3%), Zenata Berbers (4.11%), Reguibate Sahrawi (3.70%), Oromo (3.3%), Iraqis (2.4%), Saudis (0%-10.5%), Yemenis (0%-9.8%), and Algerians (0%-4.3%).
Derenko et al. (2007) found haplogroup K in many samples of Iranic, Turkic, Mongolic, and Tungusic peoples of central Eurasia, including 6.8% (3/44) of a sample of Tajiks, 6.7% (6/90) of a sample of Altai Kizhi, 3.7% (3/82) of a sample of Persians, 2.7% (2/73) of a sample of West Evenks from the Krasnoyarsk region, 2.7% (3/110) of a sample of Kalmyks, 2.1% (1/47) of a sample of Mongolians, 2.0% (2/99) of a sample of Khamnigans, 1.9% (1/53) of a sample of Teleuts, 1.4% (4/295) of a sample of Buryats, and 1.2% (1/82) of a sample of Shors. Min-Sheng Peng et al. found haplogroup K1 in 10.3% (7/68) of a sample of Kyrgyz from Taxkorgan, 7.6% (5/66) of a sample of Wakhi from Taxkorgan, 5.8% (5/86) of a sample of Sarikoli from Taxkorgan, 3.7% (1/27) of a sample of Uyghur from Artux, and 2.0% (1/50) of a sample of Pamiri from Gorno-Badakhshan. In eastern China, mtDNA haplogroup K has been found in 1.3% (1/149 K1a13, 1/149 K2a5) of a sample of Barga Mongols in Hulunbuir and in 0.9% of a sample of Beijing Han.
The more ancient evidence of Haplogroup K has been found in the remains of three individuals from Upper Palaeolithic Magdalenian of Spain with 11950 years and in the Pre-Pottery Neolithic B site of Tell Ramad, Syria, dating from c. 6000 BC. The clade was also discovered in skeletons of early farmers in Central Europe dated to around 5500-5300 BC, at percentages that were nearly double the percentage present in modern Europe. Some techniques of farming, together with associated plant and animal breeds, spread into Europe from the Near East. The evidence from ancient DNA suggests that the Neolithic culture spread by human migration.
Analysis of the mtDNA of Ötzi, the frozen mummy from 3300 BC found on the Austrian-Italian border, has shown that Ötzi belongs to the K1 subclade. It cannot be categorized into any of the three modern branches of that subclade (K1a, K1b or K1c). The new subclade has provisionally been named K1ö for Ötzi. Multiplex assay study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets.
A lock of hair kept at a reliquary at Saint-Maximin-la-Sainte Baume basilica, France, which local tradition holds belonged to the biblical figure Mary Magdalene, was also assigned to haplogroup K. Ancient DNA sequencing of a capillary bulb bore the K1a1b1a subclade, indicating that she was likely of Pharisian maternal origin.
In 2016, researchers extracted the DNA from the tibia of two individuals separately dated to 7288-6771 BCE and 7605-7529 BCE buried in Theopetra cave, Greece, the oldest known human-made structure, and both individuals were found to belong to mtDNA Haplogroup K1c.
Thuya, the great-grandmother of Tutankhamun passed haplogroup K to her descendants, including that king. Haplogroup K has also been observed among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom and Roman periods. Fossils excavated at the Late Neolithic site of Kelif el Boroud in Morocco, which have been dated to around 3,000 BCE, have likewise been observed to carry the K1 subclade.
This phylogenetic tree of haplogroup K 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.
|mtDNA HG "K" p-tree|
A study involving Caucasian patients showed that individuals classified as haplogroup J or K demonstrated a significant decrease in risk of Parkinson's disease versus individuals carrying the most common haplogroup, H.
In popular culture
On an 18 November 2005 broadcast of the Today Show, during an interview with Dr. Spencer Wells of The National Geographic Genographic Project, host Katie Couric was revealed to belong to haplogroup K.
|Wikimedia Commons has media related to Haplogroup K (mtDNA).|
- Genealogical DNA test
- Genetic genealogy
- Haplogroup K1a1b1a (mtDNA)
- Human mitochondrial genetics
- Population genetics
- Human mitochondrial DNA haplogroup
Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups
|Mitochondrial Eve (L)|
- Behar et al. (2012), haplogroup.org
- van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
- A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics, 2006
- González, Ana M (2006). "The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country". BMC Genomics. 7: 124. doi:10.1186/1471-2164-7-124. PMC 1523212. PMID 16719915.
- Richards, M; Macaulay, V; Hickey, E; et al. (November 2000). "Tracing European founder lineages in the Near Eastern mtDNA pool". Am. J. Hum. Genet. 67 (5): 1251–76. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788.
- Skorecki, Karl; Quintana-Murci, Lluis; Pergola, Sergio Della; Kaplan, Matthew; Rosengarten, Dror; David Gurwitz; Richards, Martin; Bonne-Tamir, Batsheva; Villems, Richard; Garrigan, Daniel; Hammer, Michael F.; Behar, Doron M. (1 May 2004). "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population". European Journal of Human Genetics. 12 (5): 355–364. doi:10.1038/sj.ejhg.5201156. PMID 14722586.
- Non, Amy. "ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE" (PDF). University of Florida. Retrieved 17 April 2016.
- Lucia Simoni, Francesc Calafell, Davide Pettener, Jaume Bertranpetit, and Guido Barbujani, Geographic Patterns of mtDNA Diversity in Europe, American Journal of Human Genetics, vol. 66 (2000), pp. 262–278.
- Behar, DM; Metspalu, E; Kivisild, T; et al. (March 2006). "The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event". Am. J. Hum. Genet. 78 (3): 487–97. doi:10.1086/500307. PMC 1380291. PMID 16404693.
- Richards, Martin B.; Pereira, Luísa; Soares, Pedro; Carr, Martin; Macaulay, Vincent; Eng, Ken Khong; Woodward, Scott R.; Hatina, Jiři; Naumova, Oksana; Rychkov, Sergei; Perego, Ugo A.; Achilli, Alessandro; Olivieri, Anna; Fernandes, Verónica; Pala, Maria; Pereira, Joana B.; Costa, Marta D. (8 October 2013). "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages". Nature Communications. 4: 2543. Bibcode:2013NatCo...4.2543C. doi:10.1038/ncomms3543. PMC 3806353. PMID 24104924.
- Dubut, Vincent (2003). "mtDNA polymorphisms in five French groups: importance of regional sampling". European Journal of Human Genetics. 12 (4): 293–300. doi:10.1038/sj.ejhg.5201145. PMID 14694359.
- Asmahan Bekada; Lara R. Arauna; Tahria Deba; Francesc Calafell; Soraya Benhamamouch; David Comas (September 24, 2015). "Genetic Heterogeneity in Algerian Human Populations". PLOS ONE. 10 (9): e0138453. Bibcode:2015PLoSO..1038453B. doi:10.1371/journal.pone.0138453. PMC 4581715. PMID 26402429.; S5 Table
- Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, et al. (2007), "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations." Am. J. Hum. Genet. 2007;81:1025–1041. DOI: 10.1086/522933
- Derenko M, Malyarchuk B, Denisova G, Perkova M, Rogalla U, et al. (2012), "Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe." PLoS ONE 7(2): e32179. doi:10.1371/journal.pone.0032179
- 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.
- CAS.181, 191, 202, Los Cascajos, Navarre. https://docs.google.com/spreadsheets/d/1xfeK8HvVjkCY7mKj3WEKAjapAqltooWJMptY0nStKbo/edit#gid=1942507897&range=B4875
- Fernández Domínguez, Eva. "Polimorfismos de DNA mitocondrial en poblaciones antiguas de la cuenca mediterránea". Universitat de Barcelona. Retrieved 19 October 2017.
- W. Haak, et al, "Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites", Science, vol. 310, no. 5750 (2005), pp. 1016-1018; B. Bramanti, "Ancient DNA: Genetic analysis of aDNA from sixteen skeletons of the Vedrovice," Anthropologie, vol. 46, l no. 2-3 (2008), pp. 153-160; B. Bramanti et al, "Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe’s First Farmers," Science, (published online 3 Sep 2009).
- Luca Ermini et al., "Complete Mitochondrial Genome Sequence of the Tyrolean Iceman," Current Biology, vol. 18, no. 21 (30 October 2008), pp. 1687-1693.
- Endicott et al., "Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman," BMC Genetics, vol. 10, no. 29 (19 June 2009).
- J. Tomczyk, et al., "Anthropological Analysis of the Osteological Material from an Ancient Tomb (Early Bronze Age) from the Middle Euphrates Valley, Terqa (Syria)," International Journal of Osteoarchaeology, published online ahead of print (2010).
- Lucotte, Gérard (December 2016). "The Mitochondrial DNA Mitotype of Sainte Marie-Madeleine" (PDF). International Journal of Sciences. 5 (12). Retrieved 16 February 2017.
- Sirak, Kendra; Frenandes, Daniel; Novak, Mario; Van Gerven, Dennis; Pinhasi, Ron (2016). Abstract Book of the IUAES Inter-Congress 2016 - A community divided? Revealing the community genome(s) of Medieval Kulubnarti using next- generation sequencing. IUAES.
- Hofmanová, Zuzana; Kreutzer, Susanne; Hellenthal, Garrett; Sell, Christian; Diekmann, Yoan; Díez-del-Molino, David; van Dorp, Lucy; López, Saioa; Kousathanas, Athanasios; Link, Vivian; Kirsanow, Karola; Cassidy, Lara M.; Martiniano, Rui; Strobel, Melanie; Scheu, Amelie; Kotsakis, Kostas; Halstead, Paul; Triantaphyllou, Sevi; Kyparissi-Apostolika, Nina; Urem-Kotsou, Dushka; Ziota, Christina; Adaktylou, Fotini; Gopalan, Shyamalika; Bobo, Dean M.; Winkelbach, Laura; Blöcher, Jens; Unterländer, Martina; Leuenberger, Christoph; Çilingiroğlu, Çiler; Horejs, Barbara; Gerritsen, Fokke; Shennan, Stephen J.; Bradley, Daniel G.; Currat, Mathias; Veeramah, Krishna R.; Wegmann, Daniel; Thomas, Mark G.; Papageorgopoulou, Christina; Burger, Joachim (2016). "Early farmers from across Europe directly descended from Neolithic Aegeans". Proceedings of the National Academy of Sciences. 113 (25): 6886–6891. doi:10.1073/pnas.1523951113. ISSN 0027-8424. PMC 4922144. PMID 27274049.
- Schuenemann, Verena J.; et al. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications. 8: 15694. Bibcode:2017NatCo...815694S. doi:10.1038/ncomms15694. PMC 5459999. PMID 28556824.
- Fregel; et al. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe". bioRxiv 10.1101/191569.
- van der Walt, Joelle M.; Nicodemus, Kristin K.; Martin, Eden R.; Scott, William K.; Nance, Martha A.; Watts, Ray L.; Hubble, Jean P.; Haines, Jonathan L.; Koller, William C.; Lyons, Kelly; Pahwa, Rajesh; Stern, Matthew B.; Colcher, Amy; Hiner, Bradley C.; Jankovic, Joseph; Ondo, William G.; Allen Jr., Fred H.; Goetz, Christopher G.; Small, Gary W.; Mastaglia, Frank; Stajich, Jeffrey M.; McLaurin, Adam C.; Middleton, Lefkos T.; Scott, Burton L.; Schmechel, Donald E.; Pericak-Vance, Margaret A.; Vance, Jeffery M. (2003). "Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease". The American Journal of Human Genetics. 72 (4): 804–811. doi:10.1086/373937. ISSN 0002-9297. PMC 1180345. PMID 12618962.
- Okwu, Michael (November 18, 2005). "Family tree project helps trace deep history". The Today Show. NBC Universal. Retrieved July 27, 2021.
- Slatalla, Michelle (October 25, 2007). "Marie Antoinette, Is That You?". The New York Times. Retrieved July 27, 2021.
- Gates, Henry Louis Jr. (2010). Faces of America: How 12 Extraordinary People Discovered their Pasts. NYU Press. p. 49. ISBN 978-0-8147-3265-6.
- Behar DM, van Owen M, Rosset, Metspalu M, et al. (2012). "A "Copernican" reassessment of the human mitochondrial DNA tree from its root". Am J Hum Genet. 90 (4): 675–684. doi:10.1016/j.ajhg.2012.03.002. PMC 3322232. PMID 22482806.
- Soares, P; Ermini, L; Thomson, N; Mormina, M; Rito, T; Röhl, A; Salas, A; Oppenheimer, S; et al. (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". American Journal of Human Genetics. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.