Haplogroup U (mtDNA): Wikis

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Haplogroup U
Time of origin 55,000 BP
Place of origin Western Asia
Ancestor R
Descendants U1, U5, U6, U2'3'4'7'8'9
Defining mutations 11467, 12308, 12372[1]

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

Haplogroup U (named 'Europa clan' by Stephen Oppenheimer[2]) descends from a woman in the Haplogroup R (mtDNA) 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 Berber, Indian, Arab, northern Caucasus Mountains and the Near East clades.[3]

Contents

Distribution

Haplogroup U is subdivided into Haplogroups U1-U8. Haplogroup K is a subclade of U8.[4]

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.[5]

Haplogroup U2

Haplogroup U2 (named 'Uta' by Bryan Sykes) is most common in South Asia[6] but also found in low frequency in Central and West Asia, as well as in Europe.[7]

This haplogroup has been found in the remains of a 30,000-year-old hunter-gatherer in South European Russia (Kostenki).[8]

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%).[9][10][11]

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 Delphi, Greece 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.[12]

U5 has been found in human remains dating from the Mesolithic in England, Germany, Lithuania, Poland, Portugal and Russia.[13]

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.[3]

Mitochondrial haplogroup U5a has also been associated with HIV infected individuals displaying accelerated progression to AIDS and death.[14]

  • U5b3: The subclade is found primary on the island of Sardinia.[17]

Haplogroup U6

Haplogroup U6 was named 'Ulla' by Bryan Sykes. It is common (around 10% of the people) [3] in North Africa (with a maximum of 29% in Algerian Berbers[18]) and the Canary Islands (18%). It is also found in the Iberian peninsula, where it has the highest diversity (10 out of 19 sublineages are only found in this region and not in Africa),[18] 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,[18] 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:[18]

  • 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.[19]

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.[4]
  • U8b: This clade has been found in Italy and Jordan.[4]

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[4], and is believed to have first arisen in northeastern Italy. Haplogroup UK shows some evidence of being highly protective against AIDS progression.[14]

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[1] and subsequent published research.

References

  1. ^ a b van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386-E394. PMID 18853457 doi:10.1002/humu.20921. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved 2009-05-20. 
  2. ^ The Fifth Daughter of Europa at www.bradshawfoundation.com
  3. ^ a b c The Genographic Project at National Geographic
  4. ^ a b c d A. González et al. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics, 2006
  5. ^ mtDNA Haplogroup U1a page at cagetti.com
  6. ^ 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.
  7. ^ FTDNA mtDNA U2 Haplogroup project.
  8. ^ http://news.bbc.co.uk/2/hi/science/nature/8435317.stm
  9. ^ http://evolutsioon.ut.ee/publications/Richards2000.pdf
  10. ^ http://www.journals.uchicago.edu/cgi-bin/resolve?id=doi:10.1086/383236
  11. ^ Blackwell Synergy - Cookie Absent
  12. ^ Barbujani G, Bertorelle G. "Genetics and the population history of Europe." Proceedings of the National Academy of Sciences, 2001.[1]
  13. ^ 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.
  14. ^ a b Mitochondrial DNA haplogroups influence AIDS progression.
  15. ^ Rosa, Alexandra; Carolina Ornelas (27 jul 2007). "Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective". BMC Evolutionary Biology 7 (124): E7. PMID 17662131doi:10.1186/1471-2148-7-124. http://www.biomedcentral.com/1471-2148/7/124. Retrieved 2009-07-17. 
  16. ^ Achilli, Alessandro; Chiara Rengo, Vincenza Battaglia, Maria Pala, Anna Olivieri, Simona Fornarino, Chiara Magri, Rosaria Scozzari, Nora Babudri, A. Silvana Santachiara-Benerecetti, Hans-Jürgen Bandelt, Ornella Semino, and Antonio Torroni (24 Mar 2005). "Saami and Berbers—An Unexpected Mitochondrial DNA Link". Am J Hum Genet 76 (5): 883–886. PMID 15791543. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1199377. Retrieved 2009-09-29. 
  17. ^ Pala, Maria; Alessandro Achilli (12 Jun 2009). "Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy ofthe Early Sardinians". The American Journal of Human Genetics 84 (1-8). {{doi:10.1016/j.ajhg.2009.05.004}}. http://www.moebiusonline.eu/fuorionda/doc/art_postglac2009.pdf. Retrieved 2009-09-01. 
  18. ^ a b c d N. Maca-Mayer, Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. BMC Genetics, 2003
  19. ^ [2]

See also

Human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1 L2 L3   L4 L5 L6
  M N  
CZ D E G Q   A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T Former Clusters IWX

External links


Genealogy

Up to date as of February 01, 2010

From Familypedia

<tr><th>Descendant haplogroups</th> <td>U1
Haplogroup U
Time of origin 55000 years before present
Place of origin Western Asia
Ancestral haplogroup R
, U2, U3, U4, U5, U6, K</td></tr>
Defining mutations 73, 7028, 11719, 12308, 14766

In human genetics, Haplogroup U is a human mitochondrial DNA (mtDNA) haplogroup, a group of people who descend from a woman in the Haplogroup R branch of the Genographic tree, who lived around 50,000 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.[1]

Contents

Subdivisions

Haplogroup U is subdivided into Haplogroups U1-U8 and has a parallel Haplogroup K.

Haplogroup U1

Haplogroup U2

Haplogroup U3

Haplogroup U3 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, Polish, and Spanish Romani populations (36-56%). [2] [3] [4]

Haplogroup U4

Haplogroup U4 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

The oldest mtDNA in Europe that's human, Homo Sapien and not Neanderthal or other archaic individual is U5. The age of U5 is estimated at 50,000 but could be as old as 60,500 years. The first place scientists find U5 in Europe is in Cyrenaica, and artifacts are found in Iberia, as it's the first in Europe and evolved in Europe.

The presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe. Bryan Sykes' popular book The Seven Daughters of Eve says it shows up 45,000-50,000 years ago in Delphi, Greece and named the originator of haplogroup U5 Ursula. It shows That U5 is the first out of Africa into Europe, and that it shows up as the first Europeans in two places, Delphi and Spain around 50,000 years ago.

By another source haplogroup U5, age is estimated at about 52,000 kya, being the oldest subclade of haplogroup U.[5] Haplogroup U5 and its subclades are most common in Sami, Finns, and Estonians, but it is spread widely at lower levels throughout Europe. U5 is found also in small frequencies and at much lower diversity in near East suggesting back-migration of people from northern Europe to south.[1]

Haplogroup U5a1a lineage within haplogroup U5 arose in Europe approximately 30,000 years ago, and is mainly found in northwest Europe. In the context of its rather ancient origin, the modern distribution of haplogroup U5a1 suggests that individuals bearing this haplogroup were part the initial expansion tracking the retreat of ice sheets from Europe. Bryan Sykes in his Seven Daughters of Eve book named this mtDNA haplogroup Ursula.

U5 had a common ancestor with its sister group, U6. What's interesting is that U5 and U6 are "sister mtDNA groups" with a common ancestor in N. Africa. Each mtDNA group has a sister group. A large proportion of Canary Islander are U6. The medieval Guanches of the Canary Islands also had U6. There was a lot of interbreeding in paleolithic times between U5 and U6. The Berbers are high in U6 mtDNA today.

U5 is the most ancient mtDNA in Europe (50,000 years to 60,500).

Haplogroup U6

Haplogroup U6 is a group of people who descend from a woman in the Haplogroup R branch of the Genographic tree. It is common (around 10% of the people) [1] in North Africa and the Canary Islands. It is also found in the Iberian peninsula and British islands due to ancient gene flow from North Africa.

Haplogroup U7

Many European populations lack Haplogroup U7, 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. [2].

Haplogroup U8

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. [6]

See also

External links

Notes

  1. ^ a b c The Genographic Project at National Geographic
  2. ^ http://evolutsioon.ut.ee/publications/Richards2000.pdf
  3. ^ http://www.journals.uchicago.edu/cgi-bin/resolve?id=doi:10.1086/383236
  4. ^ http://www.blackwell-synergy.com/doi/pdf/10.1111/j.1529-8817.2005.00222.x
  5. ^ Barbujani G, Bertorelle G. "Genetics and the population history of Europe." Proceedings of the National Academy of Sciences, 2001.[1]
  6. ^ Gonzalez AM, Garcia O, Larruga JM, Cabrera VM. The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country BMC Genomics 2006, 7:124

Human mitochondrial DNA (mtDNA) haplogroups

  most recent common mt-ancestor    
L0   L1  
L2 L3   L4 L5 L6 L7
  M N  
CZ D E G Q   A I O   R   S W X Y
C Z B F pre-HV   pre-JT P  UK
HV JT U K
H V J T
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