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]
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]
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:
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.[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.
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 ().[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 ().[44]
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]
^
abLucia 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.
^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
^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).
^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).
^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
^Fregel; et al. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe".
bioRxiv10.1101/191569.
^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.
ISSN0002-9297.
PMC1180345.
PMID12618962.