Haplogroup U (mtDNA)

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Haplogroup U
Possible time of origin55,000 BP
Possible place of origin
AncestorR
DescendantsU1, U5, U6, U2'3'4'7'8'9
Defining mutations11467, 12308, 12372[1]
 
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Haplogroup U
Possible time of origin55,000 BP
Possible place of origin
AncestorR
DescendantsU1, U5, U6, U2'3'4'7'8'9
Defining mutations11467, 12308, 12372[1]

In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA (mtDNA) haplogroup. U subgroups are widely distributed across Western Eurasia, North Africa, and South Asia.

Origins[edit]

Haplogroup U descends from a woman in the Haplogroup R (mtDNA) branch of the phylogenetic tree, who lived around 55,000 years ago.[2]

Distribution[edit]

Haplogroup U is found in 15% of Indian caste and 8% of Indian tribal populations.[2] U is found in approximately 11% of native Europeans and is held as the oldest maternal haplogroup found in that region.[2][3][4] Haplogroup U is subdivided into Haplogroups U1-U9. Haplogroup K is a subclade of U8.[5] The old age has led to a wide distribution of the descendant subgroups across Western Eurasia, North Africa, and South Asia. Some subclades of U have a more specific geographic range.

Subclades[edit]

Haplogroup U1[edit]

Haplogroup U1 seems to appear mostly in the Middle East; however low frequency results appear scattered throughout Europe particularly in the Mediterranean. U1 is found in Svanetia (Georgia, Caucasus) at 4.2%. 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.[6]

Haplogroup U2[edit]

Haplogroup U2 is most common in South Asia[7] but also found in low frequency in Central and West Asia, as well as in Europe as U2e.[8] The overall frequency of U2 in South Asia is largely accounted for by the group U2i, whereas haplogroup U2e, common in Europe, is entirely absent; given that these lineages diverged approximately 50kya, these data have been interpreted as indicating very low maternal-line gene-flow between South Asia and Europe throughout this period.[7]

This haplogroup has been found in the remains of a 30,000-year-old hunter-gatherer in South European Russia (Kostenki).[9]

Haplogroup U3[edit]

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%) in Svan population from Svaneti region(Georgia, Caucasus) 4,2% and among Lithuanian Romani, Polish Romani, and Spanish Romani populations (36-56%).[10][11][12]

Haplogroup U4[edit]

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. Found in Svan population from Svaneti region (Georgia, Caucasus) 8,3%

Haplogroup U4 (Ulrike) is a small Indo-European haplogroup that is particularly prevalent in Finland and Russia. It is found at low frequencies throughout Europe, North America and Asia. We have project members living in the following countries: Australia, Austria, Bahamas, Belgium, Brazil, Canada, Czech Republic, Denmark, England, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Lithuania, Macedonia, The Netherlands, New Zealand, Norway, Poland, Romania, Russia, Scotland, South Africa, Spain, Sweden, Switzerland, Turkey, Virgin Islands, West Indies, USA. [13]

The clan of Ulrike (German for Mistress of All) is not among the original "Seven Daughters of Eve" clans, but with just under 2% of Europeans among its members, it has a claim to being included among the numerically important clans. Ulrike lived about 18,000 years ago in the cold refuges of the Ukraine at the northern limits of human habitation. Though Ulrike's descendants are nowhere common, the clan is found today mainly in the east and north of Europe with particularly high concentrations in Scandinavia and the Baltic states. [14]

Haplogroup U5[edit]

The age of U5 is estimated at 30-50,000 years.[15] Approximately 11% of total Europeans and 10% of European-Americans are in haplogroup U5.

U5 has been found in human remains dating from the Mesolithic in England, Germany, Lithuania, Poland, Portugal, Russia,[16] Sweden,[17] France [18] and Spain. [19] 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 around 10.000 years ago.

Haplogroup U5 is found also in small frequencies and at much lower diversity in the Near East and parts of northern Africa (areas with sizable U6 concentrations), suggesting back-migration of people from Europe to the south.[20]

Mitochondrial haplogroup U5a has also been associated with HIV infected individuals displaying accelerated progression to AIDS and death.[21]

Haplogroup U6[edit]

Haplogroup U6 was named 'Ulla' by Bryan Sykes. It is common (around 10% of the people) [20] in North Africa (with a maximum of 29% in an Algerian Mozabites[26]) and the Canary Islands (18% on average with a peak frequency of 50.1% in La Gomera). 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),[27] 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 Near East origin of this clade based on the highest diversity of subclade U6a in that region,[27] 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:[27]

Subgroup U6a reflects the first African expansion from the Maghrib returning to the east. 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[edit]

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. 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.[7]

Haplogroup U8[edit]

Haplogroup K[edit]

Haplogroup K 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,[5] and is believed to have first arisen in northeastern Italy. Haplogroup UK shows some evidence of being highly protective against AIDS progression.[21]

Haplogroup U9[edit]

Haplogroup U9 is a rare clade in mtDNA phylogeny, characterized only recently in a few populations of Pakistan (Quintana-Murci et al. 2004). Its presence in Ethiopia and Yemen, together with some Indian-specific M lineages in the Yemeni sample, points to gene flow along the coast of the Arabian Sea. Haplogroups U9 and U4 share two common mutations at the root of their phylogeny. It is interesting that, in Pakistan, U9 occurs frequently only among the so-called “negroid Makrani” population. In this particular population, lineages specific to sub-Saharan Africans occur as frequently as 39%, which suggests that U9 lineages in Pakistan may have an African origin (Quintana-Murci et al. 2004). Regardless of which coast of the Arabian Sea may have been the origin of U9, its Ethiopian–southern Arabian–Indus Basin distribution hints that its diversification from U4 may have occurred in regions far away from the current area of the highest diversity and frequency of haplogroup U4—East Europe and western Siberia.[28]

Tree[edit]

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[edit]

Evolutionary tree of human mitochondrial DNA (mtDNA) haplogroups

 Mitochondrial Eve (L)  
L0L1-6
L1L2L3 L4L5L6
 MN 
CZDEGQ AS R IWXY
CZBFR0 pre-JTP U
HVJTK
HVJT

References[edit]

  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 Karmin, Monika (2005). Human mitochondrial DNA haplogroup R in India. University of Tartu. 
  3. ^ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185. 
  4. ^ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013. 
  5. ^ 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. 
  6. ^ mtDNA Haplogroup U1a page at cagetti.com
  7. ^ a b c 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. 
  8. ^ FTDNA mtDNA U2 Haplogroup project.
  9. ^ Rincon, Paul (2010-01-01). "DNA analysed from early European". BBC News. Retrieved 2010-05-04. 
  10. ^ 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. 
  11. ^ 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. 
  12. ^ 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. 
  13. ^ "mtDNA haplogroup U4 project (Ulrike)- Background". Family Tree DNA. Retrieved 4 November 2013. 
  14. ^ "Maternal Ancestry: The clan of Ulrike". Oxford Ancestors. Retrieved 4 November 2013. 
  15. ^ a b c d e f g h i j k l m n Behar DM, van Owen M, Rosset, Metspalu M, et al. (2012). "A "Copernican" reassessment of the human mitochondrial DNA tree from its root". Am J Hum Genet 90 (4): 675–684. doi:10.1016/j.ajhg.2012.03.002. PMC 3322232. PMID 22482806. 
  16. ^ 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. 
  17. ^ Malmstrom, H.et al. (November 2009). "Ancient DNA Reveals Lack of Continuity between Neolithic Hunter-Gatherers and Contemporary Scandinavians". Current Biology 1: 1–5. 
  18. ^ 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. 
  19. ^ Federico Sánchez-Quinto, Hannes Schroeder, Oscar Ramirez, María C. Ávila-Arcos, Marc Pybus, Iñigo Olalde, Amhed M.V. Velazquez, María Encina Prada Marcos, Julio Manuel Vidal Encinas, Jaume Bertranpetit, Ludovic Orlando, M. Thomas P. Gilbert, Carles Lalueza-Fox (June 2012). "Genomic Affinities of Two 7,000-Year-Old Iberian Hunter-Gatherers". Current Biology 22 (16): 1494–9. doi:10.1016/j.cub.2012.06.005. PMID 22748318. 
  20. ^ a b The Genographic Project at National Geographic
  21. ^ 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. 
  22. ^ 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. 
  23. ^ 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. 
  24. ^ 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". In Gilbert, M. Thomas P. PLoS ONE 5 (4): e10285. doi:10.1371/journal.pone.0010285. PMC 2858207. PMID 20422015. 
  25. ^ 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. 
  26. ^ (pdf) http://freepages.genealogy.rootsweb.ancestry.com/~genealogiadelamaza/PDF/Desde_los_pilares_de_Hercules.pdf.  Missing or empty |title= (help)
  27. ^ a b c 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. 
  28. ^ Kivisild, Toomas; Reidla, Maere; Metspalu, Ene; Rosa, Alexandra; Brehm, Antonio; Pennarun, Erwan; Parik, Jüri; Geberhiwot, Tarekegn et al. (2004). "Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears". The American Journal of Human Genetics 75 (5): 752–770. doi:10.1086/425161. PMC 1182106. PMID 15457403. 

External links[edit]