Biology:Haplogroup K (mtDNA)

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Short description: Human mitochondrial DNA haplogroup
Haplogroup K
Possible time of origin26,700 ± 4,300 years ago[1]
Possible place of originPossibly West Asia
AncestorU8b'K
DescendantsK1, K2
Defining mutations3480 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

Projected spatial frequency distribution for haplogroup K.

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 ,[7] K1a3a1 in Sardinia,[8] K1a19 in Hungary,[9] K1b1b1a in Greeks,[10] K1b1c in Serbia,[11] Slovakia,[12] and Poland ,[13] K1c2 in Irish[14] and Germans[15] and in Hungary,[16] and K2a9a in Sardinia.[17] A 2013 study had suggested that K1a1b1a, K1a9, and K2a2a1 could have originated from Western Europe.[18]

Approximately 16% of the Druze of Syria, Lebanon, Israel, and Jordan, belong to haplogroup K.[19] Examples of Druze branches of K are K1a5a[20] and K1a17a.[21] It is also found among 8% of Palestinians.[22] Additionally, K reaches a level of 17% in Kurdistan.[6]

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[23] 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.[24] Ashkenazi mtDNA K clusters into six subclades: K1a1b1*, K1a1b1a, K1a4a, K1a9, K2a*, and K2a2a1.[25]

Haplogroup K is also found among Gurage (10%),[22] Syrians (9.1%),[22] Afar (6.3%),[22] Zenata Berbers (4.11%),[26] Reguibate Sahrawi (3.70%),[26] Oromo (3.3%),[22] Iraqis (2.4%),[22] Saudis (0%-10.5%),[22] Yemenis (0%-9.8%),[22] and Algerians (0%-4.3%).[26]

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.[27] 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[28] and in 0.9% of a sample of Beijing Han.[29]

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[30] and in the Pre-Pottery Neolithic B site of Tell Ramad, Syria, dating from c. 6000 BC.[31] 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.[32]

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.[33] 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.[34]

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.[35]

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 Gérard Lucotte (fr), who claims to have discovered the DNA of Jesus Christ,[36] it would indicate that she would have been of Pharisian maternal origin.[37]

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).[38]

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.[39]

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 well as their descendants:

  • Queen Tiye
  • Pharaoh Akhenaten
  • The Younger Lady (KV35YL)
  • Pharoah Tutankhamun

[40]

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:

  • JK2139 K1a AD 54-124
  • JK2150 K1a4 BC 759-551
  • JK2895 K 16T AD AD 25-111

[41]

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.[42]

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[2] 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.[43] Additionally, a study from 2020 found that the presence of haplogroup K served as a protective agent against ADHD, with a significant value ([math]\displaystyle{ P = 0.0105 }[/math]).[44] Used in conjunction with haplogroup U, the pre-cursor to haplogroup K, was shown to have an even more significant effect in protecting against ADHD in the participants ([math]\displaystyle{ P = 2.46 x 10 ^-3 }[/math]).[44]

In popular culture

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.[45][46]

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.[47]

See also

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

References

  1. ↑ Behar et al. (2012), haplogroup.org
  2. ↑ 2.0 2.1 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. 
  3. ↑ A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics, 2006
  4. ↑ 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. PMID 16719915. 
  5. ↑ 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. 
  6. ↑ 6.0 6.1 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. ↑ Template:GenBank
  8. ↑ Template:GenBank
  9. ↑ Template:GenBank
  10. ↑ Template:GenBank
  11. ↑ Template:GenBank
  12. ↑ Template:GenBank
  13. ↑ Template:GenBank
  14. ↑ Template:GenBank
  15. ↑ Template:GenBank
  16. ↑ Template:GenBank
  17. ↑ Template:GenBank
  18. ↑ Richards, Martin B.; Pereira, Luísa; Soares, Pedro; Carr, Martin; Macaulay, Vincent; Eng, Ken Khong; Woodward, Scott R.; Hatina, Jiři et al. (8 October 2013). "A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages". Nature Communications 4: 2543. doi:10.1038/ncomms3543. PMID 24104924. Bibcode: 2013NatCo...4.2543C. 
  19. ↑ Skorecki, Karl; Quintana-Murci, Lluis; Pergola, Sergio Della; Kaplan, Matthew; Rosengarten, Dror; David Gurwitz; Richards, Martin; Bonne-Tamir, Batsheva et al. (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. 
  20. ↑ Template:GenBank
  21. ↑ Template:GenBank
  22. ↑ 22.0 22.1 22.2 22.3 22.4 22.5 22.6 22.7 Non, Amy. "ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE". University of Florida. http://etd.fcla.edu/UF/UFE0041981/non_a.pdf. 
  23. ↑ Waldman, ShamamExpression error: Unrecognized word "etal". (8 December 2022). "Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century". Cell 185 (25): Supplemental Data S1, p. 48. doi:10.1016/j.cell.2022.11.002. PMID 36455558. 
  24. ↑ Waldman, ShamamExpression error: Unrecognized word "etal". (8 December 2022). "Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century". Cell 185 (25): Supplemental Data S1, p. 33. doi:10.1016/j.cell.2022.11.002. PMID 36455558. 
  25. ↑ Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 15. ISBN 978-1644699843. 
  26. ↑ 26.0 26.1 26.2 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. doi:10.1371/journal.pone.0138453. PMID 26402429. Bibcode: 2015PLoSO..1038453B. ; S5 Table
  27. ↑ 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
  28. ↑ 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
  29. ↑ 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. PMID 28178941. 
  30. ↑ CAS.181, 191, 202, Los Cascajos, Navarre. https://docs.google.com/spreadsheets/d/1xfeK8HvVjkCY7mKj3WEKAjapAqltooWJMptY0nStKbo/edit#gid=1942507897&range=B4875
  31. ↑ Fernández Domínguez, Eva (16 December 2005). Polimorfismos de DNA mitocondrial en poblaciones antiguas de la cuenca mediterránea. Universitat de Barcelona. ISBN 9788468964799. http://diposit.ub.edu/dspace/handle/2445/35896. Retrieved 19 October 2017. 
  32. ↑ 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).
  33. ↑ Luca Ermini et al., "Complete Mitochondrial Genome Sequence of the Tyrolean Iceman," Current Biology, vol. 18, no. 21 (30 October 2008), pp. 1687-1693.
  34. ↑ 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).
  35. ↑ 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).
  36. ↑ André Marion et Gérard Lucotte, "L’Église Le linceul de Turin et la tunique d'Argenteuil, Paris, Presses de la Renaissance", 2006, ISBN 978-2-7509-0204-9
  37. ↑ Lucotte, Gérard (December 2016). "The Mitochondrial DNA Mitotype of Sainte Marie-Madeleine". International Journal of Sciences 5 (12). http://www.ijsciences.com/pub/pdf/V52016121167.pdf. Retrieved 16 February 2017. 
  38. ↑ 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". Abstract Book of the Iuaes Inter-Congress 2016 (IUAES): 115. https://bib.irb.hr/prikazi-rad?&lang=EN&rad=824672. 
  39. ↑ Hofmanová, Zuzana; Kreutzer, Susanne; Hellenthal, Garrett; Sell, Christian; Diekmann, Yoan; Díez-del-Molino, David; van Dorp, Lucy; López, Saioa et al. (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. PMID 27274049. Bibcode: 2016PNAS..113.6886H. 
  40. ↑ Gad, Yehia (2020). "Insights from ancient DNA analysis of Egyptian human mummies: clues to disease and kinship". Human Molecular Genetics 30 (R1): R24–R28. doi:10.1093/hmg/ddaa223. PMID 33059357. https://academic.oup.com/hmg/article/30/R1/R24/5924364. Retrieved 19 December 2022. 
  41. ↑ Schuenemann, Verena J. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications 8: 15694. doi:10.1038/ncomms15694. PMID 28556824. Bibcode: 2017NatCo...815694S. 
  42. ↑ "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe". 2018. bioRxiv 10.1101/191569.
  43. ↑ 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. et al. (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. PMID 12618962. 
  44. ↑ 44.0 44.1 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. doi:10.1038/s41398-020-01064-1. ISSN 2158-3188. PMID 33139694. 
  45. ↑ Okwu, Michael (November 18, 2005). "Family tree project helps trace deep history". The Today Show (NBC Universal). https://www.today.com/news/family-tree-project-helps-trace-deep-history-wbna10095659. 
  46. ↑ Slatalla, Michelle (October 25, 2007). "Marie Antoinette, Is That You?". The New York Times. https://www.nytimes.com/2007/10/25/fashion/25Cyber.html. 
  47. ↑ 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. https://archive.org/details/isbn_9780814732649. 

External links



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