Haplogroup K (mtDNA)
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Haplogroup K, formerly Haplogroup UK, is a human mitochondrial DNA (mtDNA) haplogroup. It is defined by the
HVR1 A hypervariable region (HVR) is a location within nuclear DNA or the D-loop of mitochondrial DNA in which base pairs of nucleotides repeat (in the case of nuclear DNA) or have substitutions (in the case of mitochondrial DNA). Changes or repeats i ...
mutations 16224C and 16311C. It is now known that K is a
subclade In genetics, a subclade is a subgroup of a haplogroup. Naming convention Although human mitochondrial DNA (mtDNA) and Y chromosome DNA (Y-DNA) haplogroups and subclades are named in a similar manner, their names belong to completely separate sy ...
of U8.


Origin

Haplogroup K is believed to have originated in the mid-
Upper Paleolithic The Upper Paleolithic (or Upper Palaeolithic) is the third and last subdivision of the Paleolithic or Old Stone Age. Very broadly, it dates to between 50,000 and 12,000 years ago (the beginning of the Holocene), according to some theories coin ...
, between about 30,000 and 22,000 years ago. It is the most common subclade of haplogroup U8b.


Distribution

Haplogroup K appears in
Central Europe Central Europe is an area of Europe between Western Europe and Eastern Europe, based on a common historical, social and cultural identity. The Thirty Years' War (1618–1648) between Catholicism and Protestantism significantly shaped the a ...
,
Southern Europe Southern Europe is the southern region of Europe. It is also known as Mediterranean Europe, as its geography is essentially marked by the Mediterranean Sea. Definitions of Southern Europe include some or all of these countries and regions: Alba ...
, Northern Europe,
North Africa North Africa, or Northern Africa is a region encompassing the northern portion of the African continent. There is no singularly accepted scope for the region, and it is sometimes defined as stretching from the Atlantic shores of Mauritania in ...
, the Horn of Africa,
South Asia South Asia is the southern subregion of Asia, which is defined in both geographical Geography (from Greek: , ''geographia''. Combination of Greek words ‘Geo’ (The Earth) and ‘Graphien’ (to describe), literally "earth descr ...
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. 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 A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events such as famines, earthquakes, floods, fires, disease, and droughts; or human activities such as specicide, widespread violen ...
occurring around the years 800-1000 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. Ashkenazi mtDNA K clusters into six subclades: K1a1b1*, K1a1b1a, K1a4a, K1a9, K2a*, and K2a2a1. Several of these have Middle Eastern origins. A 2013 study had suggested that K1a1b1a, K1a9, and K2a2a1 could have originated from Western Europe. However, K1a9 is shared with non-Jews in Syria and
Iran Iran, officially the Islamic Republic of Iran, and also called Persia, is a country located in Western Asia. It is bordered by Iraq and Turkey to the west, by Azerbaijan and Armenia to the northwest, by the Caspian Sea and Turkmeni ...
and K2a2a is shared with Mizrahi Jews from the
Caucasus The Caucasus () or Caucasia (), is a region between the Black Sea and the Caspian Sea, mainly comprising Armenia, Azerbaijan, Georgia (country), Georgia, and parts of Southern Russia. The Caucasus Mountains, including the Greater Caucasus range ...
and Muslims on the Arabian Peninsula although K2a2a1 is also in
Italy Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical ...
and the
Iberian Peninsula The Iberian Peninsula (), ** * Aragonese and Occitan: ''Peninsula Iberica'' ** ** * french: Péninsule Ibérique * mwl, Península Eibérica * eu, Iberiar penintsula also known as Iberia, is a peninsula in southwestern Europe, def ...
. K1a4a is found in Syria and
Turkey Turkey ( tr, Türkiye ), officially the Republic of Türkiye ( tr, Türkiye Cumhuriyeti, links=no ), is a transcontinental country located mainly on the Anatolian Peninsula in Western Asia, with a small portion on the Balkan Peninsula in ...
but also found in non-Jewish Europeans, including
Greeks The Greeks or Hellenes (; el, Έλληνες, ''Éllines'' ) are an ethnic group and nation indigenous to the Eastern Mediterranean and the Black Sea regions, namely Greece, Cyprus, Albania, Italy, Turkey, Egypt, and, to a lesser extent, oth ...
and
Italians , flag = , flag_caption = The national flag of Italy , population = , regions = Italy 55,551,000 , region1 = Brazil , pop1 = 25–33 million , ref1 = , region2 ...
. Some of these kinds of matches to K haplogroups could support the contention that some of these individual female ancestors came from a Hebrew/Levantine mtDNA pool, whose descendants lived in Europe. In Europe, K appears to be most common in the Morbihan (17.5%) and
Périgord Périgord ( , ; ; oc, Peiregòrd / ) is a natural region and former province of France, which corresponds roughly to the current Dordogne department, now forming the northern part of the administrative region of Nouvelle-Aquitaine. It is div ...
-
Limousin Limousin (; oc, Lemosin ) is a former administrative region of southwest-central France. On 1 January 2016, it became part of the new administrative region of Nouvelle-Aquitaine. It comprised three departments: Corrèze, Creuse, and Haute-Vienn ...
(15.3%) regions of
France France (), officially the French Republic ( ), is a country primarily located in Western Europe. It also comprises of overseas regions and territories in the Americas and the Atlantic, Pacific and Indian Oceans. Its metropolitan area ...
, and in
Norway Norway, officially the Kingdom of Norway, is a Nordic country in Northern Europe, the mainland territory of which comprises the western and northernmost portion of the Scandinavian Peninsula. The remote Arctic island of Jan Mayen and the ...
and
Bulgaria Bulgaria (; bg, България, Bǎlgariya), officially the Republic of Bulgaria,, ) is a country in Southeast Europe. It is situated on the eastern flank of the Balkans, and is bordered by Romania to the north, Serbia and North Macedo ...
(13.3%). The level is 12.5% in
Belgium Belgium, ; french: Belgique ; german: Belgien officially the Kingdom of Belgium, is a country in Northwestern Europe. The country is bordered by the Netherlands to the north, Germany to the east, Luxembourg to the southeast, France to th ...
, 11% in
Georgia Georgia most commonly refers to: * Georgia (country), a country in the Caucasus region of Eurasia * Georgia (U.S. state), a state in the Southeast United States Georgia may also refer to: Places Historical states and entities * Related to the ...
and 10% in
Austria Austria, , bar, Östareich officially the Republic of Austria, is a country in the southern part of Central Europe, lying in the Eastern Alps. It is a federation of nine states, one of which is the capital, Vienna, the most populous ...
and
Great Britain Great Britain is an island in the North Atlantic Ocean off the northwest coast of continental Europe. With an area of , it is the largest of the British Isles, the largest European island and the ninth-largest island in the world. It i ...
. Some specific subclades of K among Europeans are K1a1b2b in
Finland Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of B ...
, K1a3a1 in
Sardinia Sardinia ( ; it, Sardegna, label=Italian, Corsican and Tabarchino ; sc, Sardigna , sdc, Sardhigna; french: Sardaigne; sdn, Saldigna; ca, Sardenya, label=Algherese and Catalan) is the second-largest island in the Mediterranean Sea, after ...
, K1a19 in
Hungary Hungary ( hu, Magyarország ) is a landlocked country in Central Europe. Spanning of the Pannonian Basin, Carpathian Basin, it is bordered by Slovakia to the north, Ukraine to the northeast, Romania to the east and southeast, Serbia to the ...
, K1b1b1a in
Greeks The Greeks or Hellenes (; el, Έλληνες, ''Éllines'' ) are an ethnic group and nation indigenous to the Eastern Mediterranean and the Black Sea regions, namely Greece, Cyprus, Albania, Italy, Turkey, Egypt, and, to a lesser extent, oth ...
, K1b1c in
Serbia Serbia (, ; Serbian: , , ), officially the Republic of Serbia (Serbian: , , ), is a landlocked country in Southeastern and Central Europe, situated at the crossroads of the Pannonian Basin and the Balkans. It shares land borders with Hungar ...
,
Slovakia Slovakia (; sk, Slovensko ), officially the Slovak Republic ( sk, Slovenská republika, links=no ), is a landlocked country in Central Europe. It is bordered by Poland to the north, Ukraine to the east, Hungary to the south, Austria to the s ...
, and
Poland Poland, officially the Republic of Poland, is a country in Central Europe. It is divided into 16 administrative provinces called voivodeships, covering an area of . Poland has a population of over 38 million and is the fifth-most populou ...
, K1c2 in
Irish Irish may refer to: Common meanings * Someone or something of, from, or related to: ** Ireland, an island situated off the north-western coast of continental Europe ***Éire, Irish language name for the isle ** Northern Ireland, a constituent unit ...
and
Germans , native_name_lang = de , region1 = , pop1 = 72,650,269 , region2 = , pop2 = 534,000 , region3 = , pop3 = 157,000 3,322,405 , region4 = , pop4 = ...
and in Hungary, and K2a9a in Sardinia. Approximately 16% of the Druze of Syria,
Lebanon Lebanon ( , ar, لُبْنَان, translit=lubnān, ), officially the Republic of Lebanon () or the Lebanese Republic, is a country in Western Asia. It is located between Syria to Lebanon–Syria border, the north and east and Israel to Blue ...
,
Israel Israel (; he, יִשְׂרָאֵל, ; ar, إِسْرَائِيل, ), officially the State of Israel ( he, מְדִינַת יִשְׂרָאֵל, label=none, translit=Medīnat Yīsrāʾēl; ), is a country in Western Asia. It is situated ...
, and
Jordan Jordan ( ar, الأردن; tr. ' ), officially the Hashemite Kingdom of Jordan,; tr. ' is a country in Western Asia. It is situated at the crossroads of Asia, Africa, and Europe, within the Levant region, on the East Bank of the Jordan Rive ...
, belong to haplogroup K. Examples of Druze branches of K are K1a5a and K1a17a. It is also found among 8% of Palestinians. Additionally, K reaches a level of 17% in Kurdistan.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. Haplogroup K is also found among
Gurage The Gurage (, Gurage: ጉራጌ) are a Semitic-speaking ethnic group inhabiting Ethiopia.G. W. E. Huntingford, "William A. Shack: The Gurage: a people of the ensete culture" They inhabit the Gurage Zone, a fertile, semi-mountainous region in c ...
(10%), Syrians (9.1%), Afar (6.3%),
Zenata The Zenata ( Berber language: Iznaten) are a group of Amazigh (Berber) tribes, historically one of the largest Berber confederations along with the Sanhaja and Masmuda. Their lifestyle was either nomadic or semi-nomadic. Etymology ''Iznaten ( ...
Berbers (4.11%),
S5 Table
/ref> Reguibate Sahrawi (3.70%), Oromo (3.3%), Iraqis (2.4%),
Saudis Saudis ( ar, سعوديون, Suʿūdiyyūn) are people identified with the country of Saudi Arabia. This connection may be residential, legal, historical or cultural. The Saudis are composed mainly of Arabs and primarily speak a regional dialect ...
(0%-10.5%),
Yemen Yemen (; ar, ٱلْيَمَن, al-Yaman), officially the Republic of Yemen,, ) is a country in Western Asia. It is situated on the southern end of the Arabian Peninsula, and borders Saudi Arabia to the Saudi Arabia–Yemen border, north and ...
is (0%-9.8%), and
Algeria ) , image_map = Algeria (centered orthographic projection).svg , map_caption = , image_map2 = , capital = Algiers , coordinates = , largest_city = capital , relig ...
ns (0%-4.3%). Derenko ''et al.'' (2007) found haplogroup K in many samples of
Iranic The Iranian peoples or Iranic peoples are a diverse grouping of Indo-European peoples who are identified by their usage of the Iranian languages and other cultural similarities. The Proto-Iranians are believed to have emerged as a separate ...
, 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 The Persians are an Iranian ethnic group who comprise over half of the population of Iran. They share a common cultural system and are native speakers of the Persian language as well as of the languages that are closely related to Persian. ...
, 2.7% (2/73) of a sample of West
Evenks The Evenks (also spelled Ewenki or Evenki based on their endonym )Autonym: (); russian: Эвенки (); (); formerly known as Tungus or Tunguz; mn, Хамниган () or Aiwenji () are a Tungusic people of North Asia. In Russia, the Eve ...
from the Krasnoyarsk region, 2.7% (3/110) of a sample of Kalmyks, 2.1% (1/47) of a sample of
Mongolians The Mongols ( mn, Монголчууд, , , ; ; russian: Монголы) are an East Asian ethnic group native to Mongolia, Inner Mongolia in China and the Buryatia Republic of the Russian Federation. The Mongols are the principal member of ...
, 2.0% (2/99) of a sample of Khamnigans, 1.9% (1/53) of a sample of
Teleuts ''Telenget, Telengut'' , native_name_lang = alt , image = TeleutsinRussia.png , population = , region1 = * , pop1 = 2,643 , ref1 = , region2 = , pop2 = , ref2 ...
, 1.4% (4/295) of a sample of Buryats, and 1.2% (1/82) of a sample of Shors.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. 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 The Barga (Mongol: Барга; ) are a subgroup of the Buryats which gave its name to the Baikal region – "Bargujin-Tukum" (Bargujin Tökhöm) – "the land's end", according to the 13th-14th centuries Mongol people's conception. History In th ...
in HulunbuirDerenko 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. and in 0.9% of a sample of Beijing Han.


Ancient DNA

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 Pre-Pottery Neolithic B (PPNB) is part of the Pre-Pottery Neolithic, a Neolithic culture centered in upper Mesopotamia and the Levant, dating to years ago, that is, 8800–6500 BC. It was typed by British archaeologist Kathleen Kenyon durin ...
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 Ötzi, also called the Iceman, is the natural mummy of a man who lived some time between 3350 and 3105 BC, discovered in September 1991 in the Ötztal Alps (hence the nickname "Ötzi") on the border between Austria and Italy. Ötzi is believed to ...
, the frozen mummy from 3300 BC found on the
Austria Austria, , bar, Östareich officially the Republic of Austria, is a country in the southern part of Central Europe, lying in the Eastern Alps. It is a federation of nine states, one of which is the capital, Vienna, the most populous ...
n-
Italian Italian(s) may refer to: * Anything of, from, or related to the people of Italy over the centuries ** Italians, an ethnic group or simply a citizen of the Italian Republic or Italian Kingdom ** Italian language, a Romance language *** Regional Ita ...
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 woman buried some time between 2650 and 2450 BC in a presumed
Amorite The Amorites (; sux, 𒈥𒌅, MAR.TU; Akkadian: 𒀀𒈬𒊒𒌝 or 𒋾𒀉𒉡𒌝/𒊎 ; he, אֱמוֹרִי, 'Ĕmōrī; grc, Ἀμορραῖοι) were an ancient Northwest Semitic-speaking people from the Levant who also occupied la ...
tomb at Terqa (Tell Ashara), Middle Euphrates Valley, Syria carried Haplogroup K. 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, it would indicate that she would have been of Pharisian maternal origin. Haplogroup K1 has likewise been observed among specimens at the mainland cemetery in
Kulubnarti Kulubnarti ("Kulb island") is a long island in northern Sudan. Located on the Nile, around south of the Egyptian border, it is part of the village of Kulb. Until the fifteenth century, Kulubnarti was a remote area. It was one of the last known r ...
, Sudan, which date from the Early Christian period (AD 550-800). 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 Morocco (),, ) officially the Kingdom of Morocco, is the westernmost country in the Maghreb region of North Africa. It overlooks the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria t ...
, which have been dated to around 3,000 BCE, have likewise been observed to carry the K1 subclade.


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 Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms becom ...
versus individuals carrying the most common haplogroup, H.


In popular culture

In his popular book ''
The Seven Daughters of Eve ''The Seven Daughters of Eve'' is a 2001 semi-fictional book by Bryan Sykes that presents the science of human origin in Africa and their dispersion to a general audience. Sykes explains the principles of genetics and human evolution, the part ...
'',
Bryan Sykes Bryan Clifford Sykes (9 September 1947 – 10 December 2020) was a British geneticist and science writer who was a Fellow of Wolfson College and Emeritus Professor of human genetics at the University of Oxford.Today Show ''Today'' (also called ''The Today Show'' or informally, ''NBC News Today'') is an American news and talk morning television show that airs weekdays from 7:00 a.m. to 11:00 a.m. on NBC. The program debuted on January 14, 1952. It w ...
'', during an interview with Dr. Spencer Wells of The National Geographic Genographic Project, host
Katie Couric Katherine Anne Couric ( ; born January 7, 1957) is an American journalist and presenter. She is founder of Katie Couric Media, a multimedia news and production company. She also publishes a daily newsletter, ''Wake Up Call''. From 2013 to 2017, ...
was revealed to belong to haplogroup K. On 14 August 2007,
Stephen Colbert Stephen Tyrone Colbert ( ; born May 13, 1964) is an American comedian, writer, producer, political commentator, actor, and television host. He is best known for hosting the satirical Comedy Central program '' The Colbert Report'' from 2005 ...
was told by geneticist
Spencer Wells Spencer Wells (born April 6, 1969) is an American geneticist, anthropologist, author and entrepreneur. He co-hosts The Insight podcast with Razib Khan. Wells led The Genographic Project from 2005 to 2015, as an Explorer-in-Residence at the N ...
that he is a member of this haplogroup during a segment on ''
The Colbert Report ''The Colbert Report'' ( ) is an American late-night talk and news satire television program hosted by Stephen Colbert that aired four days a week on Comedy Central from October 17, 2005, to December 18, 2014, for 1,447 episodes. The show fo ...
''. Henry Louis Gates Jr. states that
Meryl Streep Mary Louise Meryl Streep (born June 22, 1949) is an American actress. Often described as "the best actress of her generation", Streep is particularly known for her versatility and accent adaptability. She has received numerous accolades throu ...
belongs to Haplogroup K in his book ''
Faces of America ''Faces of America'' is a four-part Public Broadcasting Service (PBS) Public television television series hosted by Professor Henry Louis Gates. The series originally aired February 10 – March 3, 2010 from 8–9 p.m. ET.Genealogical DNA test A genealogical DNA test is a DNA-based test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixt ...
* Genetic genealogy * Haplogroup K1a1b1a (mtDNA) *
Human mitochondrial genetics Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondri ...
*
Population genetics Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, ...
*
Human mitochondrial DNA haplogroup In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evo ...


References

* *


External links

*General **Mannis van Oven'
Phylotree
*Haplogroup K

from '' National Geographic''
Eupedia Haplogroup K page

mtDNA Haplogroup K Project
at
Family Tree DNA FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database of ...

Danish Demes Regional DNA Project: mtDNA Haplogroup K
*Ian Logan'

{{DEFAULTSORT:Haplogroup K (Mtdna) K Ashkenazi Jews topics