Haplogroup U (mtDNA)
Encyclopedia
In human mitochondrial genetics
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....

, Haplogroup U is a human mitochondrial DNA (mtDNA) haplogroup
Human mitochondrial DNA haplogroups
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...

.

Origins

Haplogroup U descends from a woman in the Haplogroup R (mtDNA)
Haplogroup R (mtDNA)
In human mitochondrial genetics, haplogroup R is a very extended mitochondrial DNA haplogroup and is the most common macro-haplogroup in West Eurasia.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.

Distribution

Haplogroup U is subdivided into Haplogroups U1-U8. Haplogroup K
Haplogroup K (mtDNA)
In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup, defined by HVR1 mutations 16224C and 16311C.-Origin:It is the most common subclade of haplogroup U8, and it has an estimated age of c. 12,000 years BP....

 is a subclade of U8. The old age has led to a wide distribution of the descendant subgroups that harbor specific Europe
Europe
Europe 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 watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...

an, Berber
Berber people
Berbers are the indigenous peoples of North Africa west of the Nile Valley. They are continuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke the Berber language or varieties of it, which together form a branch...

, India
India
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...

n, African, Arab
Arab
Arab people, also known as Arabs , are a panethnicity primarily living in the Arab world, which is located in Western Asia and North Africa. They are identified as such on one or more of genealogical, linguistic, or cultural grounds, with tribal affiliations, and intra-tribal relationships playing...

, northern Caucasus
Caucasus
The Caucasus, also Caucas or Caucasia , is a geopolitical region at the border of Europe and Asia, and situated between the Black and the Caspian sea...

 Mountains and the Near East
East
East is a noun, adjective, or adverb indicating direction or geography.East is one of the four cardinal directions or compass points. It is the opposite of west and is perpendicular to north and south.By convention, the right side of a map is east....

 clades.

Haplogroup U1

Haplogroup U1 (named 'Una' by Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current 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. 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 Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current 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 as U2e.

This haplogroup has been found in the remains of a 30,000-year-old hunter-gatherer in South European Russia (Kostenki
Kostenki
Kostenki is a village located on western middle bank of Don River in Voronezh Oblast, Russia. It is known for high concentration of cultural remains of modern humans from beginning of Upper Paleolithic era....

).

Haplogroup U3

Haplogroup U3 (named 'Uma' by Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...

) is defined by the HVR1 transition
Transition (genetics)
In genetics, a transition is a point mutation that changes a purine nucleotide to another purine or a pyrimidine nucleotide to another pyrimidine . Approximately two out of three single nucleotide polymorphisms are transitions....

 A16343G. It is found at low levels throughout Europe
Europe
Europe 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 watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...

 (about 1% of the population), the Near East
Near East
The Near East is a geographical term that covers different countries for geographers, archeologists, and historians, on the one hand, and for political scientists, economists, and journalists, on the other...

 (about 2.5% of the population), and Central Asia
Central Asia
Central Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north...

 (1%). U3 is present at higher levels among populations in the Caucasus
Caucasus
The Caucasus, also Caucas or Caucasia , is a geopolitical region at the border of Europe and Asia, and situated between the Black and the Caspian sea...

 (about 6%) and among Lithuanian Romani, Polish Romani, and Spanish Romani populations (36-56%).

Haplogroup U4

Haplogroup U4 (named 'Ulrike' by Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current 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 Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...

' popular book The Seven Daughters of Eve
The Seven Daughters of Eve
The 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 the area of Delphi
Delphi
Delphi is both an archaeological site and a modern town in Greece on the south-western spur of Mount Parnassus in the valley of Phocis.In Greek mythology, Delphi was the site of the Delphic oracle, the most important oracle in the classical Greek world, and a major site for the worship of the god...

, Greece
Greece
Greece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....

 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. Thus, the name 'Ursula' could be applied to the entirety of haplogroup U, as well as U5.

U5 has been found in human remains dating from the Mesolithic in England, Germany, Lithuania, Poland, Portugal, Russia , Sweden , and France .

Haplogroup U5 and its subclades U5a and U5b form the highest population concentrations in the far north, in Sami
Sami people
The Sami people, also spelled Sámi, or Saami, are the arctic indigenous people inhabiting Sápmi, which today encompasses parts of far northern Sweden, Norway, Finland, the Kola Peninsula of Russia, and the border area between south and middle Sweden and Norway. The Sámi are Europe’s northernmost...

, Finns, and Estonians
Estonians
Estonians are a Finnic people closely related to the Finns and inhabiting, primarily, the country of Estonia. They speak a Finnic 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 HIV
HIV
Human immunodeficiency virus is a lentivirus that causes acquired immunodeficiency syndrome , a condition in humans in which progressive failure of the immune system allows life-threatening opportunistic infections and cancers to thrive...

 infected individuals displaying accelerated progression to AIDS
AIDS
Acquired immune deficiency syndrome or acquired immunodeficiency syndrome is a disease of the human immune system caused by the human immunodeficiency virus...

 and death.
  • U5 has polymorphisms in the locations of 3197 9477 13617 16192 16270
    • U5a arose around 20000 years ago and has polymorphisms in 14793 16256 ( + U5 polymorphisms).
      • U5a1 arose around 16000 years ago and has polymorphisms in 15218 16399( + U5a polymorphisms).
        • U5a1a arose around 15000 years ago and has polymorphisms in 1700 16192( + U5a1 polymorphisms).
          • U5a1a1 arose around 12000 years ago and has polymorphisms in 5495 15924( + U5a1a polymorphisms).
            • U5a1a1a has polymorphisms in 152 3816( + U5a1a1 polymorphisms).
          • U5a1a2 has polymorphisms in 573.1C (deletion) 12346( + U5a1a polymorphisms).
            • U5a1a2a has polymorphisms in 5319 6629 6719( + U5a1a2 polymorphisms).
        • U5a1b arose around 11000 years ago and has polymorphisms in 9667 (A9667G) ( + U5a1 polymorphisms).
          • U5a1b1 arose around 10000 years ago and has polymorphisms in 16291 (C16291T) ( + U5a1b polymorphisms).
            • U5a1b1a has polymorphisms in 356.1C (deletion) 4553 ( + U5a1b1 polymorphisms).
            • U5a1b1b has polymorphisms in 8119 (T8119C)( + U5a1b1 polymorphisms).
            • U5a1b1c has polymorphisms in 9055 (G9055A)( + U5a1b1 polymorphisms).
            • U5a1b1c1 has polymorphisms in 1187 (T1187C)( + U5a1b1c polymorphisms).
            • U5a1b1d has polymorphisms in 12358 16093 ( + U5a1b1 polymorphisms).
            • U5a1b1e has polymorphisms in 12582 16192 16294 ( + U5a1b1 polymorphisms).
          • U5a1b2 has polymorphisms in 9632 ( + U5a1b polymorphisms).
          • U5a1b3 has polymorphisms in 16362 16428 ( + U5a1b polymorphisms).
        • U5a1c arose around 13000 years ago and has polymorphisms in 16320 ( + U5a1 polymorphisms).
          • U5a1c1 has polymorphisms in 195 13802 ( + U5a1c polymorphisms).
          • U5a1c2 has polymorphisms in 961 965.1C (deletion)( + U5a1c polymorphisms).
        • U5a1d arose around 19000 years ago and has polymorphisms in 3027 ( + U5a1 polymorphisms).
          • U5a1d1 has polymorphisms in 5263 13002 (to adenosine)( + U5a1d polymorphisms).
          • U5a1d2 has polymorphisms in 573.1C (deletion) 3552 (+ U5a1d polymorphisms).
            • U5a1d2a has polymorphisms in 195 4823 5583 16145 16189 (+ U5a1d2 polymorphisms).
        • U5a1e has polymorphisms in 3564 8610 ( + U5a1 polymorphisms).
        • U5a1f has polymorphisms in 6023 ( + U5a1 polymorphisms).
      • U5a2 arose around 14000 years ago and has polymorphisms in 16526( + U5a polymorphisms).
        • U5a2a arose around 6000 years ago and has polymorphisms in 13827 13928C 16114 16294 ( + U5a2 polymorphisms).
        • U5a2b arose around 8000 years ago and has polymorphisms in 9548 ( + U5a2 polymorphisms).
        • U5a2c arose around 13000 years ago and has polymorphisms in 10619( + U5a2 polymorphisms).
        • U5a2d and has polymorphisms in 7843 7978 8104 11107 16192! (backmutated in 16192 to the original Cambridge sequence) ( + U5a2 polymorphisms).
        • U5a2e and has polymorphisms in 151 152 3768 15289 16189 16311 16362 ( + U5a2 polymorphisms).
    • U5b arose around 24000 years ago and has polymorphisms in 150 7768 14182( + U5 polymorphisms).
      • U5b1 arose around 18000 years ago and has polymorphisms in 5656( + U5b polymorphisms).
        • U5b1a has polymorphisms in 5656 15097, 16189 and has lost its polymorphism in 7028 (backmutation)( + U5b1 polymorphisms).
        • U5b1b: has been found in Fulbe and Papel people in Guinea-Bissau
          Guinea-Bissau
          The Republic of Guinea-Bissau is a country in West Africa. It is bordered by Senegal to the north, and Guinea to the south and east, with the Atlantic Ocean to its west....

           and Yakuts
          Yakuts
          Yakuts , 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 Siberia
          Siberia
          Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...

          . It arose around 11000 years ago and has polymorphisms in 12618 16189 ( + U5b1 polymorphisms).
        • U5b1c has polymorphisms in 5656 15191, 16189, 16311 + U5b1 polymorphisms) and arose about 13000 years ago.
        • U5b1d has polymorphisms in 5437 5656 and has lost its polymorphism in 16192 (backmutation)( + U5b1 polymorphisms).
        • U5b1e has polymorphisms in 152 2757 10283 12616 16189 and has lost its polymorphism in 16192 (backmutation)( + U5b1 polymorphisms) and arose about 6600 years ago.U5b1e is mainly seen in central Europe among Czechs, Slovaks, Hungarians and southern Russians..
        • U5b1g has polymorphisms in 151 228 573.1C 5656 10654 13759 14577 ( + U5b1 polymorphisms).
      • U5b2 arose around 24000 years ago and has polymorphisms in 1721 13637( + U5b polymorphisms).
      • U5b3: The subclade is found primary on the island of Sardinia
        Sardinia
        Sardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...

        .

Haplogroup U6

Haplogroup U6 was named 'Ulla' by Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...

. It is common (around 10% of the people) in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...

 (with a maximum of 29% in an Algerian Berber people
Berber people
Berbers are the indigenous peoples of North Africa west of the Nile Valley. They are continuously distributed from the Atlantic to the Siwa oasis, in Egypt, and from the Mediterranean to the Niger River. Historically they spoke the Berber language or varieties of it, which together form a branch...

) and the Canary Islands
Canary Islands
The Canary Islands , also known as the Canaries , is a Spanish archipelago located just off the northwest coast of mainland Africa, 100 km west of the border between Morocco and the Western Sahara. The Canaries are a Spanish autonomous community and an outermost region of the European Union...

 (18%). It is also found in the Iberian peninsula
Iberian Peninsula
The Iberian Peninsula , sometimes called Iberia, is located in the extreme southwest of Europe and includes the modern-day sovereign states of Spain, Portugal and Andorra, as well as the British Overseas Territory of Gibraltar...

, 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.

U6 is thought to have entered North Africa around 30,000 years ago from the Near-East. In spite of the highest diversity of Iberian U6, Maca-Meyer argues for an Iberian 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. However U6 has its highest frequencies in North Africa and seems to be a specific haplogroup of that region.

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. Found in Brittany (France) at 4.5% frequency. Also found among the Akan people
      Akan people
      The Akan people are an ethnic group found predominately in Ghana and The Ivory Coast. Akans are the majority in both of these countries and overall have a population of over 20 million people.The Akan speak Kwa languages-Origin and ethnogenesis:...

       at 4.5% frequency.
  • 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 Canary Islands and in the Iberian peninsula. 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 Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current 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
    Basque people
    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-central Spain and south-western France.The Basques are known in the...

     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 K
Haplogroup K (mtDNA)
In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup, defined by HVR1 mutations 16224C and 16311C.-Origin:It is the most common subclade of haplogroup U8, and it has an estimated age of c. 12,000 years BP....

 (named 'Katrine' by Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current 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 U8b'K, 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.

See also

  • Genealogical DNA test
    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
    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
    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
    Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...


External links


}
  • Haplogroup U
    • The mtDNA Haplogroup U Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...


  • Haplogroup U1
    • The mtDNA Haplogroup U1 Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...

  • Haplogroup U2
    • The mtDNA Haplogroup U2 Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...

  • Haplogroup U4
  • Haplogroup U5
  • Haplogroup U6
    • The mtDNA Haplogroup U6 Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...

    • The U6b Website
  • Haplogroup U7
    • The U7 Haplogroup Mitochondrial DNA Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...

  • Haplogroup U8
    • The U8 Haplogroup Mitochondrial DNA Project at Family Tree DNA
      FamilyTreeDNA
      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. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...

The source of this article is wikipedia, the free encyclopedia.  The text of this article is licensed under the GFDL.
 
x
OK