Haplogroup U (mtDNA)

Haplogroup U
Possible time of origin 55,000 BP
Possible 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.

Contents

Origins

Haplogroup U 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.

Distribution

Haplogroup U is subdivided into Haplogroups U1-U8. Haplogroup K is a subclade of U8.[2] The old age has led to a wide distribution of the descendant subgroups that harbor specific European, Berber, Indian, African, Arab, northern Caucasus Mountains and the Near East clades.[3]

Subclades

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. 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.[4]

Haplogroup U2

Haplogroup U2 (named 'Uta' by Bryan Sykes) is most common in South Asia[5] but also found in low frequency in Central and West Asia, as well as in Europe as U2e.[6]

This haplogroup has been found in the remains of a 30,000-year-old hunter-gatherer in South European Russia (Kostenki).[7]

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%).[8][9][10]

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 the area of 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.[11] 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 [12], Sweden [13], and France [14] .

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.[15]

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 an Algerian Berber people[20]) 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),[20] 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,[20] 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:[20]

Subgroup U6a reflects the first African expansion from the Maghrib returning to the east in Paleolithic times. Derivative clade U6a1 signals a posterior movement from East Africa back to the Maghrib and the Near East. This migration coincides with the probable Afroasiatic linguistic expansion. U6b and U6c clades, restricted to West Africa, had more localized expansions. U6b probably reached the Iberian Peninsula during the Capsian diffusion in North Africa. Two autochthonous derivatives of these clades (U6b1 and U6c1) indicate the arrival of North African settlers to the Canarian Archipelago in prehistoric times, most probably due to the Saharan desiccation. The absence of these Canarian lineages nowadays in Africa suggests important demographic movements in the western area of this Continent.
—Maca-Meyer 2003

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. However, it was present in Northern Europe before the Middle Ages, and it was carried by a wealthy woman, perhaps of their Royal Clan, buried in the Viking Oseberg ship in Norway. 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.[5]

Haplogroup U8

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 U8b'K,[2] and is believed to have first arisen in northeastern Italy. Haplogroup UK shows some evidence of being highly protective against AIDS progression.[15]

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.

See also

Evolutionary tree of Human mitochondrial DNA (mtDNA) haplogroups
  Mitochondrial Eve (L)    
L0 L1-6
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

References

  1. ^ a b van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. 
  2. ^ a b c d González AM, García O, Larruga JM, Cabrera VM (2006). "The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country". BMC Genomics 7: 124. doi:10.1186/1471-2164-7-124. PMC 1523212. PMID 16719915. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1523212. 
  3. ^ a b c The Genographic Project at National Geographic
  4. ^ mtDNA Haplogroup U1a page at cagetti.com
  5. ^ a b Metspalu M, Kivisild T, Metspalu E, et al. (August 2004). "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 5: 26. doi:10.1186/1471-2156-5-26. PMC 516768. PMID 15339343. http://evolutsioon.ut.ee/publications/Metspalu2004.pdf. 
  6. ^ FTDNA mtDNA U2 Haplogroup project.
  7. ^ "DNA analysed from early European". BBC News. 2010-01-01. http://news.bbc.co.uk/2/hi/science/nature/8435317.stm. Retrieved 2010-05-04. 
  8. ^ Richards M, Macaulay V, Hickey E, et al. (November 2000). "Tracing European founder lineages in the Near Eastern mtDNA pool". American Journal of Human Genetics 67 (5): 1251–76. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788. http://evolutsioon.ut.ee/publications/Richards2000.pdf. 
  9. ^ Quintana-Murci L, Chaix R, Wells RS, et al. (May 2004). "Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor". American Journal of Human Genetics 74 (5): 827–45. doi:10.1086/383236. PMC 1181978. PMID 15077202. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1181978. 
  10. ^ a b Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Miścicka-Sliwka D (March 2006). "Mitochondrial DNA diversity in the Polish Roma". Annals of Human Genetics 70 (2): 195–206. doi:10.1111/j.1529-8817.2005.00222.x. PMID 16626330. 
  11. ^ Barbujani G, Bertorelle G (January 2001). "Genetics and the population history of Europe". Proceedings of the National Academy of Sciences of the United States of America 98 (1): 22–5. doi:10.1073/pnas.98.1.22. PMC 33353. PMID 11136246. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=33353. 
  12. ^ Bramanti B, Thomas MG, Haak W, et al. (October 2009). "Genetic discontinuity between local hunter-gatherers and central Europe's first farmers". Science 326 (5949): 137–40. doi:10.1126/science.1176869. PMID 19729620. 
  13. ^ Malmstrom, H.et al. (November 2009). "Ancient DNA Reveals Lack of Continuity between Neolithic Hunter-Gatherers and Contemporary Scandinavians". Current Biology 1: 1–5. 
  14. ^ Deguilloux, M-F.,et al. (January 2011). "News from the west: Ancient DNA from a French megalithic burial chamber". American Journal of Physical Anthropology 144 (1): 108–18. doi:10.1002/ajpa.21376. PMID 20717990. 
  15. ^ a b Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. (November 2008). "Mitochondrial DNA haplogroups influence AIDS progression". AIDS 22 (18): 2429–39. doi:10.1097/QAD.0b013e32831940bb. PMC 2699618. PMID 19005266. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2699618. 
  16. ^ Rosa A, Ornelas C, Jobling MA, Brehm A, Villems R (2007). "Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspective". BMC Evolutionary Biology 7: 124. doi:10.1186/1471-2148-7-124. PMC 1976131. PMID 17662131. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1976131. 
  17. ^ Achilli A, Rengo C, Battaglia V, et al. (May 2005). "Saami and Berbers--an unexpected mitochondrial DNA link". American Journal of Human Genetics 76 (5): 883–6. doi:10.1086/430073. PMC 1199377. PMID 15791543. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1199377. 
  18. ^ Malyarchuk B, Derenko M, Grzybowski T, Perkowa M, Rogalla U, Vanecek T, Tsybovsky I (November 2010). "The Peopling of Europe from the Mitochondrial Haplogroup U5 Perspective". PLoS ONE 5 (4): e10285. doi:10.1371/journal.pone.0010285. PMC 2858207. PMID 20422015. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2858207. 
  19. ^ Pala M, Achilli A, Olivieri A, et al. (June 2009). "Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians". American Journal of Human Genetics 84 (6): 814–21. doi:10.1016/j.ajhg.2009.05.004. PMC 2694970. PMID 19500771. http://www.moebiusonline.eu/fuorionda/doc/art_postglac2009.pdf. 
  20. ^ a b c d Maca-Meyer N, González AM, Pestano J, Flores C, Larruga JM, Cabrera VM (October 2003). "Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography". BMC Genetics 4: 15. doi:10.1186/1471-2156-4-15. PMC 270091. PMID 14563219. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=270091. 

External links