Haplogroup K (mtDNA) explained

K
Origin-Date:26,700 ± 4,300 years ago[1]
Origin-Place:Possibly West Asia
Ancestor:U8b'K
Descendants:K1, K2
Mutations:3480 10550 11299 14798 16224 16311[2]

Haplogroup K, formerly Haplogroup UK, is a human mitochondrial DNA (mtDNA) haplogroup. It is defined by the HVR1 mutations 16224C and 16311C. It is now known that K is a subclade of U8.[3]

Origin

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.[4]

Distribution

Haplogroup K appears in Central Europe, Southern Europe, Northern Europe, North Africa, the Horn of Africa, South Asia and West Asia and in populations with such an ancestry. 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 populations.

In Europe, K appears to be most common in the Morbihan (17.5%) and Périgord-Limousin (15.3%) regions of France, and in Norway and Bulgaria (13.3%).[5] The level is 12.5% in Belgium, 11% in Georgia and 10% in Austria and Great Britain.[6] Some specific subclades of K among Europeans are K1a1b2b in Finland, K1a3a1 in Sardinia, K1a19 in Hungary, K1b1b1a in Greeks, K1b1c in Serbia, Slovakia, and Poland, K1c2 in Irish and Germans and in Hungary, and K2a9a in Sardinia. A 2013 study had suggested that K1a1b1a, K1a9, and K2a2a1 could have originated from Western Europe.[7]

Approximately 16% of the Druze of Syria, Lebanon, Israel, and Jordan, belong to haplogroup K.[8] Examples of Druze branches of K are K1a5a and K1a17a. It is also found among 8% of Palestinians.[9] Additionally, K reaches a level of 17% in Kurdistan.

Approximately 32% of people with Ashkenazi Jewish ancestry are in haplogroup K, with about 21% in K1a1b1a alone. This high percentage points to a genetic bottleneck occurring around the years 800-1000[10] under which K1a1b1a was particularly affected since K1a1b1a carriers' proportions of founder alleles and pathogenic variants were higher than in carriers of other haplogroups, and the K1a1b1a carriers had longer total lengths for runs of homozygosity compared to carriers of other haplogroups.[11] Ashkenazi mtDNA K clusters into six subclades: K1a1b1*, K1a1b1a, K1a4a, K1a9, K2a*, and K2a2a1.[12]

Haplogroup K is also found among Gurage (10%),[9] Syrians (9.1%),[9] Afar (6.3%),[9] Zenata Berbers (4.11%),[13] Reguibate Sahrawi (3.70%),[13] Oromo (3.3%),[9] Iraqis (2.4%),[9] Saudis (0%-10.5%),[9] Yemenis (0%-9.8%),[9] and Algerians (0%-4.3%).[13]

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.[14] 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[15] and in 0.9% of a sample of Beijing Han.[16]

Ancient DNA

The more ancient evidence of Haplogroup K has been found in the remains of three individuals from Upper Palaeolithic Magdalenian of Spain 11,950 years ago[17] and in the Pre-Pottery Neolithic B site of Tell Ramad, Syria, dating from c. 6000 BC.[18] 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.[19] [20] [21]

Analysis of the mtDNA of Ötzi, the frozen mummy from 3300 BC found on the Austria–Italy 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.[22] 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.[23]

A woman buried some time between 2650 and 2450 BC in a presumed Amorite tomb at Terqa (Tell Ashara), Middle Euphrates Valley, Syria carried Haplogroup K.[24]

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 and according to the highly controversial researcher, who claims to have discovered the DNA of Jesus Christ,[25] it would indicate that she would have been of Pharisian maternal origin.[26]

Haplogroup K1 has likewise been observed among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).[27]

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.[28]

Yuya, a powerful ancient Egyptian courtier during the 18th Dynasty of Egypt (circa 1390 BC) and his wife Thuya, an Egyptian noblewoman associated with the royal family, both belonged to the maternal haplogroup K, as did their descendants:

The remains of 3 Haplogroup K carriers were among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt as follows beginning with their sample number, followed by clade and date:

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.[31]

Subclades

Tree

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.

Genetic traits

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.[32] Additionally, a study from 2020 found that the presence of haplogroup K served as a protective agent against ADHD, with a significant value (

P=0.0105

).[33] Used in conjunction with haplogroup U, the precursor to haplogroup K, was shown to have an even more significant effect in protecting against ADHD in the participants (

P=2.46 x 10-3

).

In popular culture

See also: List of haplogroups of historic people. In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Katrine.

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.[34] [35]

On 14 August 2007, Stephen Colbert was told by geneticist Spencer Wells that he is a member of this haplogroup during a segment on The Colbert Report.

Henry Louis Gates Jr. states that Meryl Streep belongs to Haplogroup K in his book Faces of America.[36]

Mayim Bialik belongs to the subclade K1a9,[37] as does Larry David.[38]

Notable carriers of subclade K2a2a have included Steven Pinker,[39] Nadine Epstein, Mike Nichols,[40] and Amy Harmon.[41]

See also

References

External links

Notes and References

  1. Behar et al. (2012), haplogroup.org
  2. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Human Mutation. 13 Oct 2008. Mannis. van Oven. Manfred Kayser. 30. 2. E386–E394. 10.1002/humu.20921. 18853457 . 27566749. free.
  3. http://www.biomedcentral.com/1471-2164/7/124 A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics, 2006
  4. 10.1186/1471-2164-7-124 . 7 . 2006 . BMC Genomics . 124 . González . Ana M . The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country . 16719915 . 1523212 . free .
  5. Dubut . Vincent . 2003 . mtDNA polymorphisms in five French groups: importance of regional sampling . European Journal of Human Genetics . 12 . 4 . 293–300 . 10.1038/sj.ejhg.5201145 . 14694359 . free.
  6. 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.
  7. 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 . 8 October 2013 . A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages . Nature Communications . 4 . 2543 . 2013NatCo...4.2543C . 10.1038/ncomms3543 . 3806353 . 24104924 . Joana B. . Pereira . Marta D. . Costa.
  8. 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 . 10.1038/sj.ejhg.5201156 . 14722586 . free.
  9. Web site: Non . Amy . ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE . 17 April 2016 . University of Florida . 13 October 2020 . https://web.archive.org/web/20201013000218/http://etd.fcla.edu/UF/UFE0041981/non_a.pdf . dead .
  10. 10.1016/j.cell.2022.11.002. Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century. Waldman. Shamam. Backenroth. Daniel. etal. 8 December 2022. Cell. 185. 25. Supplemental Data S1, p. 48. 36455558 . 9793425 .
  11. 10.1016/j.cell.2022.11.002. Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century. Waldman. Shamam. Backenroth. Daniel. etal. 8 December 2022. Cell. 185. 25. Supplemental Data S1, p. 33. 36455558 . 9793425 .
  12. Book: Brook, Kevin Alan. 15. 2022. The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. 978-1644699843.
  13. Asmahan Bekada . Lara R. Arauna . Tahria Deba . Francesc Calafell . Soraya Benhamamouch . David Comas . Genetic Heterogeneity in Algerian Human Populations. PLOS ONE. September 24, 2015. 10. 9. 10.1371/journal.pone.0138453. 26402429 . 4581715 . e0138453. 2015PLoSO..1038453B . free .
    S5 Table
  14. 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.
  15. 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.
  16. Rishishwar L, Jordan IK. Implications of human evolution and admixture for mitochondrial replacement therapy. . BMC Genomics . 2017 . 18 . 1 . 140 . 28178941 . 10.1186/s12864-017-3539-3 . 5299762 . free .
  17. https://docs.google.com/spreadsheets/d/1xfeK8HvVjkCY7mKj3WEKAjapAqltooWJMptY0nStKbo/edit#gid=1942507897&range=B4875 CAS.181, 191, 202, Los Cascajos, Navarre
  18. Book: Fernández Domínguez. Eva. Polimorfismos de DNA mitocondrial en poblaciones antiguas de la cuenca mediterránea. 16 December 2005. Universitat de Barcelona. 9788468964799. 19 October 2017.
  19. W. . Haak . etal . Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites . Science . 310 . 5750 . 2005 . 1016–1018. 10.1126/science.1118725 . 16284177 .
  20. B. . Bramanti . Ancient DNA: Genetic analysis of aDNA from sixteen skeletons of the Vedrovice . Anthropologie . 46 . 2–3 . 2008 . 153–160.
  21. B. . Bramanti . etal . Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe's First Farmers . Science . 3 September 2009. 326 . 5949 . 137–140 . 10.1126/science.1176869 . 19729620 . 2009Sci...326..137B .
  22. Luca . Ermini . etal . Complete Mitochondrial Genome Sequence of the Tyrolean Iceman . Current Biology . 18 . 21 . 30 October 2008 . 1687–1693. 10.1016/j.cub.2008.09.028 . 18976917 . 2008CBio...18.1687E . free .
  23. Phillip . Endicott . Juan J. . Sanchez . Irene . Pichler . Paul . Brotherton . Jerome . Brooks . Eduard . Egarter-Vigl . Alan . Cooper . Peter . Pramstaller . 4 . 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 . 10 . article 29 . 19 June 2009. 29 . 10.1186/1471-2156-10-29 . free . 19545382 . 2717998 .
  24. J. . Tomczyk . etal . Anthropological Analysis of the Osteological Material from an Ancient Tomb (Early Bronze Age) from the Middle Euphrates Valley, Terqa (Syria) . International Journal of Osteoarchaeology . 2010.
  25. Book: André . Marion . Gérard . Lucotte . L'Église Le linceul de Turin et la tunique d'Argenteuil, Paris . The Church, the Shroud of Turin and the Tunic of Argenteuil, Paris . fr . Presses de la Renaissance . 2006 . 978-2-7509-0204-9.
  26. Lucotte. Gérard. The Mitochondrial DNA Mitotype of Sainte Marie-Madeleine. International Journal of Sciences. December 2016. 5. 12. 16 February 2017.
  27. Sirak . Kendra . Frenandes . Daniel . Novak . Mario . Van Gerven . Dennis . Pinhasi . Ron. A community divided? Revealing the community genome(s) of Medieval Kulubnarti using next- generation sequencing. Abstract Book of the Iuaes Inter-Congress 2016 . 2016. 115 . IUAES.
  28. 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. 6. Early farmers from across Europe directly descended from Neolithic Aegeans. Proceedings of the National Academy of Sciences. 113. 25. 2016. 6886–6891. 0027-8424. 10.1073/pnas.1523951113. 27274049. 4922144. 2016PNAS..113.6886H . free.
  29. Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship . Human Molecular Genetics . 30 . R1 . 2020 . Gad . Yehia . 10.1093/hmg/ddaa223 . R24–R28 . 33059357 . 19 December 2022 . 2 May 2021 . https://web.archive.org/web/20210502033524/https://academic.oup.com/hmg/article/30/R1/R24/5924364 . live . free .
  30. Schuenemann . Verena J.. etal. Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods. Nature Communications. 2017. 8. 15694. 28556824. 10.1038/ncomms15694. 5459999. 2017NatCo...815694S.
  31. Rosa . Fregel . Fernando L. . Méndez . Youssef . Bokbot . Dimas . Martín-Socas . María D. . Camalich-Massieu . Jonathan . Santana . Jacob . Morales . María C. . Ávila-Arcos . Peter A. . Underhill . Beth . Shapiro . Genevieve . Wojcik . Morten . Rasmussen . André E. R. . Soares . Joshua . Kapp . Alexandra . Sockell . Francisco J. . Rodríguez-Santos . Abdeslam . Mikdad . Aioze . Trujillo-Mederos . Carlos D. . Bustamante . 6 . Anne C. . Stone . Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe . Proceedings of the National Academy of Sciences . June 12, 2018 . 115 . 26 . 6774–6779 . 10.1073/pnas.1800851115 . free . 29895688 . 10.1101/191569. 6042094 . 2018PNAS..115.6774F .
  32. 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.. Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease. The American Journal of Human Genetics. 72. 4. 2003. 804–811. 0002-9297. 10.1086/373937. 12618962. 1180345.
  33. Chang . Xiao . Liu . Yichuan . Mentch . Frank . Glessner . Joseph . Qu . Huiqi . Nguyen . Kenny . Sleiman . Patrick M. A. . Hakonarson . Hakon . 2020-11-02 . Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans . Translational Psychiatry . 10 . 1 . 370 . 10.1038/s41398-020-01064-1 . 2158-3188 . 7608630 . 33139694.
  34. News: Okwu. Michael. November 18, 2005. Family tree project helps trace deep history. The Today Show. NBC Universal. July 27, 2021.
  35. News: Slatalla. Michelle. October 25, 2007. Marie Antoinette, Is That You?. The New York Times. July 27, 2021.
  36. Book: Gates, Henry Louis Jr.. Henry Louis Gates Jr.. Faces of America: How 12 Extraordinary People Discovered their Pasts. registration. 2010. NYU Press. 978-0-8147-3265-6. 49.
  37. Nadine Epstein . September–October 2012 . The Moment Magazine Great DNA Experiment . 42 . Moment Magazine . 2024-03-07.
  38. Finding Your Roots . PBS . 2017-10-03 . 4 . 1 . en.
  39. Nadine Epstein . September–October 2012 . The Moment Magazine Great DNA Experiment . 43 . Moment Magazine . 2024-03-07.
  40. Book: Gates, Henry Louis Jr.. Henry Louis Gates Jr.. Faces of America: How 12 Extraordinary People Discovered their Pasts. registration. 2010. NYU Press. 978-0-8147-3265-6. 31.
  41. News: Harmon . Amy . January 22, 2006 . Love You, K2a2a, Whoever You Are . The New York Times . 1 of Section 4 . 2024-03-10.

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