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Haplogroup U (mtDNA): Map

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In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.

Origin

Haplogroup U (named 'Europa clan' by Stephen Oppenheimer) descends from a woman, in the Haplogroup R 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 K is a subclade of U8.

Haplogroup U1

Haplogroup U1 (named 'Una' by Bryan Sykes) 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 Sykes) 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 Sykes) is defined by the HVR1 transition A16343G. It is found at low levels throughout Europe (about 1% of the population), the Near East (about 2.5% of the population), and Central Asia (1%). U3 is present at higher levels among populations in the Caucasus (about 6%) and among Lithuanian Romani, Polish Romani, and Spanish Romani populations (36-56%).

Haplogroup U4

Haplogroup U4 (named 'Ulrike' by Bryan Sykes) 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' popular book The Seven Daughters of Eve calculated that it arose 45,000-50,000 years ago in Delphimarker, Greecemarker 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,.

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 Sami, Finns, and Estonians, 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 infected individuals displaying accelerated progression to AIDS and death.



  • U5b3: The subclade is found primary on the island of Sardinia.


Haplogroup U6

Haplogroup U6 (named 'Ulla' by Bryan Sykes) is a group of people who descend from a woman in the Haplogroup R branch of the phylogenetic tree. It is common (around 10% of the people) in North Africa (with a maximum of 29% in Algerian Berbers) and the Canary Islandsmarker (18%). It is also found in the Iberian peninsulamarker, 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 Sykes), 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 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 (named 'Katrine' by Bryan Sykes) 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.

Subclades

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.

References

  1. The Fifth Daughter of Europa at www.bradshawfoundation.com
  2. The Genographic Project at National Geographic
  3. A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics, 2006
  4. mtDNA Haplogroup U1a page at cagetti.com
  5. M. Metspalu et al. Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genetics, 2004.
  6. FTDNA mtDNA U2 Haplogroup project.
  7. http://evolutsioon.ut.ee/publications/Richards2000.pdf
  8. http://www.journals.uchicago.edu/cgi-bin/resolve?id=doi:10.1086/383236
  9. Blackwell Synergy - Cookie Absent
  10. Barbujani G, Bertorelle G. "Genetics and the population history of Europe." Proceedings of the National Academy of Sciences, 2001.[1]
  11. H. Chandler, Bryan Sykes and João Zilhão, Using ancient DNA to examine genetic continuity at the Mesolithic-Neolithic transition in Portugal, in P. Arias, R. Ontanon and C. Garcia-Monco (eds.), Actas del III Congreso del Neolitico en la Peninsula Iberica (2005), pp. 781-86; B. Bramanti et al, Genetic Discontinuity Between Local Hunter-Gatherers and Central Europe’s First Farmers, Science, (published online September 3, 2009): DOI: 10.1126/science.1176869; U5 was found in Cheddar Man, England, by Bryan Sykes.
  12. Mitochondrial DNA haplogroups influence AIDS progression.
  13. N. Maca-Mayer, Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. BMC Genetics, 2003
  14. [2]


See also



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