Haplogroup K (mtDNA)

Haplogroup K
Possible time of origin 12,000 years Aprox[1]
Possible place of origin Western Asia
Ancestor U8b'K
Descendants K1, K2
Defining mutations 3480 10550 11299 14798 16224 16311[2]

In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA (mtDNA) haplogroup, defined by HVR1 mutations 16224C and 16311C.

Origin

It is the most common subclade of haplogroup U8b,[3] and it has an estimated age of c. 12,000 years BP.[4]

Distribution

Haplogroup K appears in West Eurasia, North Africa, and South Asia and in populations with such an ancestry. Haplogroup K is found in approximately 10% of native Europeans.[5][6] Overall 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 was also found in a significant group of Palestinian Arabs.[7] K reaches a level of 17% in Kurdistan.[8]

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.[7] 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.[9] Recent studies suggest these clades originate from Western Europe.[10]

The average of European K frequency is 5.6%. 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%).[11] The level is 12.5% in Belgium, 11% in Georgia and 10% in Austria and Great Britain.[8]

Ancient DNA

Haplogroup K was found in the remains of three individuals from the Pre-Pottery Neolithic B site of Tell Ramad, Syria, dating from c. 6000 BC.[12] Haplogroup K has also been found in skeletons of early farmers in Central Europe of around 5500-5300 BC. It has long been known that 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.[13]

Analysis of the mtDNA of Ötzi the Iceman, the frozen mummy from 3,300 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.[14] 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.[15]

A woman buried some time between 2650 and 2450 BC in a presumed Amorite tomb at Terqa (Tell Ashara), Middle Euphrates Valley, in Syria carried Haplogroup K.[16]

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. [17]

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.

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

Meryl Streep is said to belong to Haplogroup K, in the book "Faces of America: How 12 Extraordinary People Discovered Their Pasts," by Henry Louis Gates. NYU Press, Aug 1, 2010. Google eBook [18]

See also

Evolutionary 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. ↑ 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.
  2. 1 2 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. Retrieved 2009-05-20.
  3. ↑ A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country, BMC Genomics, (2006)
  4. ↑ Richards et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool. AJHG, 2000.
  5. ↑ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185.
  6. ↑ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013.
  7. 1 2 Doron M. Behar et al. "MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population."
  8. 1 2 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.
  9. ↑ Doron M. Behar et al., The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event, American Journal of Human Genetics, vol.78 , no. 3 (2006), pp. 487-97.
  10. ↑
  11. ↑ Vincent Dubut et al., mtDNA polymorphisms in five French groups: importance of regional sampling, European Journal of Human Genetics vol. 12 (2004), pp. 293–300.
  12. ↑ Fernández Domínguez, E., Polimorfismos de DNA mitochondrial en poblaciones antiguas de la cuenca mediterránea. (Doctoral thesis 2005).
  13. ↑ 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).
  14. ↑ Luca Ermini et al., "Complete Mitochondrial Genome Sequence of the Tyrolean Iceman," Current Biology, vol. 18, no. 21 (30 October 2008), pp. 1687-1693.
  15. ↑ 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).
  16. ↑ 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).
  17. ↑ 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.
  18. ↑ Gates, Henry Louis (2010). "Faces of America: How 12 Extraordinary People Discovered Their Pasts". ISBN 9780814732656.

External links

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