In
human mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
,
Haplogroup U is a
human mitochondrial DNA (mtDNA) haplogroupIn 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...
.
Haplogroup U (named 'Europa clan' by
Stephen OppenheimerStephen Oppenheimer , a British physician, a member of Green College, Oxford and an honorary fellow of Liverpool School of Tropical Medicine, carries out and publishes research in the field of genetics....
) descends from a woman, in the
Haplogroup R (mtDNA)In human mitochondrial genetics, Haplogroup R is a mitochondrial DNA macro-haplogroup.Haplogroup R is a descendant of macro-haplogroup N...
branch of the phylogenetic tree, who lived around 55,000 years ago. Her descendants gave birth to several different subgroups, some of which exhibit specific geographic homelands. The old age has led to a wide distribution of the descendant subgroups that harbor specific European, northern African, Indian, Arab, northern Caucasus Mountains and the Near East clades.
Haplogroup U is subdivided into Haplogroups U1-U8.
In
human mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
,
Haplogroup U is a
human mitochondrial DNA (mtDNA) haplogroupIn 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...
.
Origin
Haplogroup U (named 'Europa clan' by
Stephen OppenheimerStephen Oppenheimer , a British physician, a member of Green College, Oxford and an honorary fellow of Liverpool School of Tropical Medicine, carries out and publishes research in the field of genetics....
) descends from a woman, in the
Haplogroup R (mtDNA)In human mitochondrial genetics, Haplogroup R is a mitochondrial DNA macro-haplogroup.Haplogroup R is a descendant of macro-haplogroup N...
branch of the phylogenetic tree, who lived around 55,000 years ago. Her descendants gave birth to several different subgroups, some of which exhibit specific geographic homelands. The old age has led to a wide distribution of the descendant subgroups that harbor specific European, northern African, Indian, Arab, northern Caucasus Mountains and the Near East clades.
Distribution
Haplogroup U is subdivided into Haplogroups U1-U8.
Haplogroup KIn human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup.-Origin:It is the most common subclade of haplogroup U8 and it has an estimated age in Europe of c. 12,000 years BP.-Distribution:...
is a subclade of U8.
Haplogroup U1
Haplogroup U1 (named 'Una' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) seems to appear mostly in the Middle East, however low frequency results appear scattered throughout Europe particularly in the Mediterranean. U1a in particular is found from India to Europe, but is extremely rare among the northern and Atlantic fringes of Europe including the British Isles and Scandinavia. Several examples in Tuscany have been noted. In India U1a has been found in the Kerala region and the west. U1b has a similar spread but is rarer than U1a. Some examples of U1b have been found among Jewish diaspora. U1a and U1b appear in equal frequency in eastern Europe.
Haplogroup U2
Haplogroup U2 (named 'Uta' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) is most common in South Asia but also found in low frequency in Central and West Asia, as well as in Europe.
Haplogroup U3
Haplogroup U3 (named 'Uma' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) is defined by the HVR1
transitionIn genetics, a transition is a mutation changing a purine to another purine nucleotide or a pyrimidine to another pyrimidine nucleotide . Approximately two out of every three single nucleotide polymorphisms are transitions....
A16343G. It is found at low levels throughout
EuropeEurope is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally divided from Asia to its east by the water divide of the Ural Mountains, the Ural River, the Caspian Sea, the Caucasus Mountains , and the Black Sea to the southeast...
(about 1% of the population), the
Near EastNear East today is an ambiguous term that covers different countries for archeologists and historians, on one hand, and for political scientists, economists, and journalists, on the other...
(about 2.5% of the population), and
Central AsiaAsia is a region of Asia from the Caspian Sea in the west to central China in the east, and from southern Russia in the north to northern India in the south. It is also sometimes known as Middle Asia or Inner Asia, and is within the scope of the wider Eurasian continent.Various definitions of its...
(1%). U3 is present at higher levels among populations in the
CaucasusThe Caucasus or Caucas is a geopolitical region between at the border of Europe and Asia. It is home to the Caucasus Mountains, including Europe's highest mountain ....
(about 6%) and among Lithuanian Romani, Polish Romani, and Spanish Romani populations (36-56%).
Haplogroup U4
Haplogroup U4 (named 'Ulrike' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) has its origin in the Upper Palaeolithic, dating to approximately 25,000 years ago. It is widely distributed in Europe, and has been implicated in the expansion of modern humans into Europe occurring before the Last Glacial Maximum.
Haplogroup U5
Among the oldest mtDNA haplogroups found in European remains of Homo sapiens is U5. The age of U5 is estimated at 50,000 but could be as old as 60,500 years. Approximately 11% of total Europeans and 10% of European-Americans are in haplogroup U5.
The presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe.
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
' popular book
The Seven Daughters of EveThe Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of Human mitochondrial genetics to a general audience...
calculated that it arose 45,000-50,000 years ago in
DelphiDelphi is both an archaeological site and a modern town in Greece on the south-western spur of Mount Parnassus in the valley of Phocis...
,
GreeceGreece , officially the Hellenic Republic , is a country in southeastern Europe, situated on the southern end of the Balkan Peninsula....
and named the originator of haplogroup U5
Ursula. However the details related to location and age are speculative. Barbujani and Bertorelle estimate the age of haplogroup U5 as about 52,000 years ago, being the oldest subclade of haplogroup U, and thus perhaps ancestral to the other subclades of Haplogroup U, including
Haplogroup KHaplogroup K may refer to:* Haplogroup K , a human mitochondrial DNA haplogroup* Haplogroup K , a human Y-chromosome haplogroup...
.
U5 has been found in human remains dating from the Mesolithic in England, Germany, Lithuania, Poland, Portugal and Russia.
Haplogroup U5 and its subclades U5a and U5b form the highest population concentrations in the far north, in
SamiThe Sami people, also spelled Sámi, or Saami, are one of the indigenous people of northern Europe inhabiting Sápmi, which today encompasses parts of northern Sweden, Norway, Finland and the Kola Peninsula of Russia but also in the border area between south and middle Sweden...
, Finns, and
EstoniansEstonians are a Finnic people closely related to the Finns and inhabiting, primarily, the country of Estonia. The Estonians speak a Finno-Ugric language, known as Estonian...
, but it is spread widely at lower levels throughout Europe. This distribution, and the age of the haplogroup, indicate individuals from this haplogroup were part of the initial expansion tracking the retreat of ice sheets from Europe ~10kya.
Haplogroup U5 is found also in small frequencies and at much lower diversity in the Near East and parts of Africa, suggesting back-migration of people from northern Europe to the south.
Mitochondrial haplogroup U5a has also been associated with
HIVHuman immunodeficiency virus is a lentivirus that causes acquired immunodeficiency syndrome , a condition in humans in which the immune system begins to fail, leading to life-threatening opportunistic infections. Infection with HIV occurs by the transfer of blood, semen, vaginal fluid,...
infected individuals displaying accelerated progression to
AIDSAcquired immune deficiency syndrome or acquired immunodeficiency syndrome is a disease of the human immune system caused by the human immunodeficiency virus ....
and death.
U5 and U6 are "sister mtDNA groups" with a common ancestor (probably in West Asia).
- U5b1b: has been found in Fulbe and Papel people in Guinea-Bissau
The Republic of Guinea-Bissau is a country in western Africa, and one of the smallest states in continental Africa. It is bordered by Senegal to the north, and Guinea to the south and east, with the Atlantic Ocean to its west....
and YakutsYakuts , self-designation: Sakha, are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages...
people of northeastern SiberiaSiberia , is the vast region constituting almost all of Northern Asia and for the most part currently serving as the massive central and eastern portion of the Russian Federation, having served in the same capacity previously for the USSR from its beginning, and the Russian Empire beginning in the...
.
- U5b3: The subclade is found primary on the island of Sardinia.
Haplogroup U6
Haplogroup U6 (named 'Ulla' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) is a group of people who descend from a woman in the
Haplogroup R (mtDNA)In human mitochondrial genetics, Haplogroup R is a mitochondrial DNA macro-haplogroup.Haplogroup R is a descendant of macro-haplogroup N...
branch of the phylogenetic tree. It is common (around 10% of the people) in
North AfricaNorth Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa.Geopolitically, the UN definition of Northern Africa includes the following seven countries or territories; Algeria, Egypt, Libya, Morocco, Sudan, Tunisia,Mauritania, and...
(with a maximum of 29% in Algerian
BerbersBerbers are the indigenous peoples of North Africa west of the Nile Valley. They are discontinuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke various Berber languages, which together form a branch of the...
) and the
Canary IslandsThe Canary Islands are a Spanish archipelago which, in turn, forms one of the Spanish Autonomous Communities and an Outermost Region of the European Union. The archipelago is located just off the northwest coast of mainland Africa, 100 km west of the disputed border between Morocco and the...
(18%). It is also found in the
Iberian peninsulaThe Iberian Peninsula, or Iberia, is located in the extreme southwest of Europe and includes modern-day Spain, Portugal, Andorra and Gibraltar and a very small area of France. It is the westernmost of the three major southern European peninsulas—the Iberian, Italian, and Balkan peninsulas...
, where it has the highest diversity (10 out of 19 sublineages are only found in this region and not in Africa), Eastern Africa and occasionally in other locations.
In spite of the highest diversity of Iberian U6, Maca-Meyer argues for an East African origin of this clade based on the highest diversity of subclade U6a in that region, where it would have arrived from West Asia. She estimates the age of U6 between 25,000 and 66,000 years BP.
U6 has three main subclades:
- U6a: it is the most widespread (from Canary Islands and Iberian Peninsula to Syria, Ethiopia and Kenya) and has highest diversity in Eastern Africa. Estimated age: 24-27,500 BP. It has one major subclade:
- U6a1: with similar distribution to U6a. Estimated age: 15-20,000 BP.
- U6b: shows a more patched and western distribution. In the Iberian peninsula U6b is more frequent in the North (while U6a is in the South). It has also been found in low amounts in Morocco, Algeria, Senegal and Nigeria. Estimated age: 8,500-24,500 BP. It has one subclade:
- U6b1: found only in the Iberian peninsula and the Canary Islands. Estimated age: c. 6000 BP.
- U6c: only found in Morocco and Canary Islands. Estimated age: 6,000-17,500 BP.
U6a and U6b share a common basal mutation (16219) that is not present in U6c.
Haplogroup U7
Many European populations lack Haplogroup U7 (named 'Ulaana' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
), but its frequency climbs over 4% in the Near East and up to 5% in Pakistan, reaching nearly 10% level in Iranians. In India, haplogroup U7 frequency peaks at over 12% in Gujarat, the westernmost state of India, while for the whole of India its frequency stays around 2%. Expansion times and haplotype diversities for the Indian and Near and Middle Eastern U7 mtDNAs are strikingly similar. The possible homeland of this haplogroup spans Indian Gujarat and Iran because from there its frequency declines steeply both to the east and to the west. If the origin were in Iran rather than in India, then its equally high frequency as well as diversity in Gujarat favors a scenario whereby U7 has been introduced to the coastal western India either very early, or by multiple founders.
Haplogroup U8
- U8a: The Basques
The Basques are the native people of the Basque Country .The Basques as an ethnic group primarily inhabit an area traditionally known as the Basque Country, a region that is located around the western end of the Pyrenees on the coast of the Bay of Biscay and straddles parts of north-eastern Spain...
have the most ancestral phylogeny in Europe for the mitochondrial haplogroup U8a, a rare subgroup of U8, placing the Basque origin of this lineage in the Upper Palaeolithic. The lack of U8a lineages in Africa suggests that their ancestors may have originated from West Asia.
- U8b: This clade has been found in Italy and Jordan.
Haplogroup K
Haplogroup KIn human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup.-Origin:It is the most common subclade of haplogroup U8 and it has an estimated age in Europe of c. 12,000 years BP.-Distribution:...
(named 'Katrine' by
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
) makes up a sizeable fraction of European and West Asian mtDNA lineages. It is now known it is actually a subclade of haplogroup U8, and is believed to have first arisen in northeastern Italy. Haplogroup UK shows some evidence of being highly protective against AIDS progression.
Tree
This phylogenetic tree of haplogroup U 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.
| mtDNA HG "U" p-tree |
- U
- U1
- U5
- U6
- U6a'b'd
- U6a
- U6a1
- U6a2
- U6a3
- U6a4
- U6a5
- U6a6
- U6a7
- U6b
- U6d
- U6c
- U2'3'4'7'8
- U2
- U3
- U4'9
- U7
- U8
- U8a
- U8b'K
- U8b
- K
In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup.-Origin:It is the most common subclade of haplogroup U8 and it has an estimated age in Europe of c. 12,000 years BP.-Distribution:...
|
See also
- Genealogical DNA test
A genealogical DNA test examines the nucleotides at specific locations on a person's DNA for genetic genealogy purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders ; they are intended only to give genealogical...
- Genetic Genealogy
Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
- Population Genetics
Population genetics is the study of the allele frequency distribution and change under the influence of the four evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes account of population subdivision and population structure in space. As such, it attempts...
External links
- General
- Haplogroup U
- Haplogroup U1
- The mtDNA Haplogroup U1 Project at Family Tree DNA
Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona...
- Haplogroup U2
- The mtDNA Haplogroup U2 Project at Family Tree DNA
Family Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona...
- Haplogroup U4
- Haplogroup U5
- Haplogroup U6
- Haplogroup U7
- Haplogroup U8