Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). The clade arose from haplogroup R, likely during the early Upper Paleolithic. Its various subclades (labelled U1–U9, diverging over the course of the Upper Paleolithic) are found widely distributed across Northern and Eastern Europe, Central, Western and South Asia, as well as North Africa, the Horn of Africa, and the Canary Islands.
Origins Haplogroup U descends from the haplogroup R mtDNA branch of the phylogenetic tree. The defining mutations (A11467G, A12308G, G12372A) are estimated to have arisen between 43,000 and 50,000 years ago, in the early Upper Paleolithic (around 46,530 ± 3,290 years before present, with a 95% confidence interval per Behar et al., 2012).
Ancient DNA classified as belonging to the U* mitochondrial haplogroup has been recovered from human skeletal remains found in Western Siberia, which have been dated to c. 45,000 years ago. The mitogenome (33-fold coverage) of the Peştera Muierii 1 individual (PM1) from Romania (35 ky cal BP) has been identified as the basal haplogroup U6* not previously found in any ancient or present-day humans..
Haplogroup U has been found among Iberomaurusian specimens dating from the Epipaleolithic at the Taforalt and Afalou prehistoric sites. Among the Taforalt individuals, around 13% of the observed haplotypes belonged to various U subclades, including U4a2b (1/24; 4%), U4c1 (1/24; 4%), and U6d3 (1/24; 4%). A further 41% of the analysed haplotypes could be assigned to either haplogroup U or haplogroup H. Among the Afalou individuals, 44% of the analysed haplotypes could be assigned to either haplogroup U or haplogroup H (3/9; 33%).
Haplogroup U has also been observed among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, dated to the 1st millennium BC, 13 of the 90 mummies bearing haplogroup U (U carriers all of the late period) and various subclades of it, U, U1,U3,U5,U6,U7 and U8. and in a separate study, DNA extracted from a tooth the mummified head of a much older mummy of about 4,000 years ago Djehutynakht of the very end of the 11th or early 12th Dynasty who belonged to mtDNA haplogroup U5b2b5 (with no exact matches found in a modern population of U5 carriers) from a 2018 article by Odile Loreille et al.
The first European lineage of haplogroup U in Iron Age Central China is represented by Chieftain Yu Hong (North China, 533–592 AD).
Additionally, haplogroup U has been observed in ancient Guanche fossils excavated in Gran Canaria and Tenerife on the Canary Islands, which have been radiocarbon-dated to between the 7th and 11th centuries CE. All of the clade-bearing individuals were inhumed at the Tenerife site, with these specimens found to belong to the U6b1a (4/7; 57%) and U6b (1/7; 14%) subclades.
Distribution Haplogroup U is found in 15% of Indian caste and 8% of Indian tribal populations. Haplogroup U is found in approximately 11% of native Europeans and is held as the oldest maternal haplogroup found in that region. In a 2013 study, all but one of the ancient modern human sequences from Europe belonged to maternal haplogroup U, thus confirming previous findings that haplogroup U was the dominant type of mitochondrial DNA (mtDNA) in Europe before the spread of agriculture into Europe from the Near East.
Haplogroup U has various subclades numbered U1 to U9. Haplogroup K is a subclade of U8. The old age has led to a wide distribution of the descendant subgroups across Western Eurasia, North Africa, and South Asia. Some subclades of haplogroup U have a more specific geographic range.
Subclades Subclades are labelled U1–U9; Haplogroup K is a subclade of U8.
Van Oven and Kayser (2009) proposed subclades "U2'3'4'7'8" and "U4'9". Behar et al. (2012) amended this by grouping "U4'9" as subordinate to "U2'3'4'7'8" for a new intermediate subclade "U2'3'4'7'8'9".
Haplogroup U Basal U was found in the 26,000 years old remains of Ancient North Eurasian, Mal'ta boy (MA1).
Haplogroup U1 The U1 subclades are: U1a (with deep-subclades U1a1, U1a1a, U1a1a1, U1a1b) and U1b.
Haplogroup U1 estimated to have arisen between 26,000 and 37,000 years ago. It is found at very low frequency throughout Europe. It is more often observed in eastern Europe, Anatolia and the Near East. It is also found at low frequencies in India. U1 is found in the Svanetia region of Georgia at 4.2%. Subclade U1a is found from India to Europe, but is extremely rare among the northern and Atlantic fringes of Europe including the British Isles and Scandinavia. In India, U1a has been found in the Kerala region. U1b has a similar spread but is rarer than U1a. A variety of subclade U1b1 with the mutations G14070A! and A3426G is found in Ashkenazi Jews. Subclades U1a and U1b appear in equal frequency in eastern Europe.
The rare U1 clade is also found among Algerians in Oran (0.83%-1.08%) and the Reguibat tribe of the Sahrawi (0.93%).
The U1a1a subclade has been observed in an ancient individual excavated at the Kellis 2 cemetery in the Dakleh Oasis, located in the southwestern desert of Egypt. 21 of the Kellis burials have been radiocarbon-dated to around 80-445 AD, a timeframe within the Romano-Christian period. Haplogroup U1 has also been found among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).
DNA analysis of excavated remains now located at ruins of the Church of St. Augustine in Goa, India have also revealed the unique mtDNA subclade U1b. This sublineage is absent in India, but present in Georgia and surrounding regions. Since the genetic analysis corroborates archaeological and literary evidence, it is believed that the excavated remains belong to Ketevan the Martyr, queen of Georgia.
U1 U1a U1a1 U1a1a U1a1a1 U1a1a1a U1a1a2 U1a1a-G16129A! U1a1a3 U1a1b U1a1c U1a1c1 U1a1c1a U1a1c1b U1a1c1c U1a1c1c1 U1a1c1d U1a1c1d1 U1a1d U1a2 U1a3 U1b U1b1 U1b2 U1b3
Haplogroup U5 The age of U5 is estimated at between 25,000 and 35,000 years old, roughly corresponding to the Gravettian culture. Approximately 11% of Europeans (10% of European-Americans) have some variant of haplogroup U5. The haplogroup most likely originated in Europe.
U5 was the predominant mtDNA of mesolithic Western Hunter Gatherers (WHG).
U5 has been found in human remains dating from the Mesolithic in England, Germany, Lithuania, Poland, Portugal, Russia, Sweden, France and Spain. Neolithic skeletons (~7,000 years old) that were excavated from the Avellaner cave in Catalonia, northeastern Spain included a specimen carrying haplogroup U5.
Haplogroup U5 and its subclades U5a and U5b today form the highest population concentrations in the far north, among Sami, Finns, and Estonians. However, it is spread widely at lower levels throughout Europe. This distribution, and the age of the haplogroup, indicate individuals belonging to this clade were part of the initial expansion tracking the retreat of ice sheets from Europe around 10,000 years ago.
The modern Basques and Cantabrians possess almost exclusively U5b lineages (U5b1f, U5b1c1, U5b2).
Additionally, haplogroup U5 is found 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 toward the south.
Mitochondrial haplogroup U5a has also been associated with HIV infected individuals displaying accelerated progression to AIDS and death.
U5 was the main haplogroup of Mesolithic European hunter gatherers. U haplogroups were present at 83% in European hunter gatherers before influx of Middle Eastern farmer and steppe Indo-European ancestry decreased its frequency to less than 21%.
U5 U5a'b U5a arose around 17,000 and 27,000 years ago U5a1 arose between 14,000 and 20,000 years ago. Found in an Etruscan individual (700-600 B.C.) from southern Etruria, Italy. U5a1-T16192C! U5a1a arose between 8,000 and 16,000 years ago U5a1a1 arose between 3,000 and 11,000 years ago U5a1a1-T152C! U5a1a1a arose less than 6,000 years agoAge: 1,398.1 ± 1,872.3; CI=95% (Behar et al., 2012) haplogroup.org U5a1a1b arose around between 600 and 6,000 years ago U5a1a1h U5a1a1c U5a1a1-T16362C U5a1a1d arose less than 4,300 years ago U5a1a1d1 U5a1a1e U5a1a1g U5a1a1i U5a1a2 arose between 7,000 and 14,000 years ago U5a1a2a arose less than 5,400 years ago U5a1a2a1 arose less than 3,400 years ago U5a1a2a1a U5a1a2b U5a1a2b1 U5a1g U5a1g1 U5a1g2 U5a1b arose between 6,000 and 11,000 years ago U5a1b1 arose between 5,000 and 9,000 years ago U5a1b1a arose between 2,500 and 7,500 years ago U5a1b1a1 arose less than 4,000 years ago U5a1b1a2 U5a1b1a1 U5a1b1b arose less than 8,000 years ago U5a1b1b1 U5a1b1c arose between 3,000 and 7,000 years ago U5a1b1c1 arose less than 5,000 years ago U5a1b1c2 arose less than 5,000 years ago U5a1b1d U5a1b1d-T16093C U5a1b1d1 U5a1b1e U5a1b1f U5a1b1g U5a1b1h U5a1b2 U5a1b-T16362C U5a1b3 U5a1b3a U5a1b3a1 U5a1b4 U5a1c U5a1c1 U5a1c1a U5a1c2 U5a1c2a U5a1c2a1 U5a1d arose around 19000 years ago U5a1d1 U5a1d2 U5a1d2a U5a1d2a1 U5a1d2b U5a1e U5a1f U5a1f1 U5a1f1a U5a1f1a1 U5a1f2 U5a1h U5a1i U5a1i1 U5a1j U5a2 arose around 14000 years ago U5a2-C16294T U5a2a arose around 6000 years ago. It has been found in an ancient Mesolithic sample (6000-5000 cal BCE) from the Cave of Santimamiñe in the Basque Country, Spain. U5a2a1 U5a2a1a U5a2a1b U5a2a1b1 U5a2a1c U5a2a1d U5a2a1-T152C! U5a2a1e U5a2a2 U5a2a2a U5a2b arose around 8000 years ago. It has been found in a Proto-Villanovan female (930 BC and 839 BC) buried in Martinsicuro, Italy. U5a2b1 U5a2b1a U5a2b1b U5a2b1c U5a2b1d U5a2b2 U5a2b2a U5a2b2a1 U5a2b3 U5a2b3a U5a2b3a1 U5a2b4 U5a2b4a U5a2b5 U5a2c arose around 13000 years ago U5a2c1 U5a2c2 U5a2c3 U5a2c3a U5a2c4 U5a2d found at the Mesolithic Huseby Klev site in western Sweden U5a2d1 U5a2d1a U5a2-T16362C U5a2e U5b arose between 19,000 and 26,000 years ago22,794.0 ± 3,590.3; CI=95% (Behar et al., 2012) haplogroup.org and has polymorphisms in 150 7768 14182 ( + U5 polymorphisms). Found among Siwa Berbers of the Siwa Oasis. U5b1 arose between 11,000 and 20,000 years ago.Age: 15,529.7 ± 4,889.9; CI=95% The Cheddar Man from Great Britain is a well known specimen. U5b1a U5b1-T16189C! U5b1b has been found in Saami of Scandinavia, Finnish and the Berbers of North Africa, which were found to share an extremely young branch, aged merely ~9,000 years. U5b1b was also found in Fulbe and Papel people in Guinea-Bissau and Yakuts people of northeastern Siberia. It arose around 11000 years ago. U5b1b1 U5b1b1-T16192C! U5b1b1a U5b1b1a1 U5b1b1a1a U5b1b1a1a1 U5b1b1a1b U5b1b1a2 U5b1b1a3 U5b1b1b A principal element in the maternal western eurasian lineages in Puerto Rico, matching with samples from Senegambia and northern Cameroon indicating its presence as a product of early colonization and enslavement of Senegambians. U5b1b1-T152C! U5b1b1e U5b1b1g U5b1b1g1 U5b1b1g1a U5b1b2 U5b1b2a U5b1b2b U5b1c arose about 13,000 years ago U5b1c1 U5b1c1a U5b1c1a1 U5b1c2 U5b1c2a U5b1c2b U5b1-T16189C!-T16192C! U5b1e arose about 6600 years ago. U5b1e is mainly seen in central Europe among Czechs, Slovaks, Hungarians and southern Russians. U5b1e1 U5b1e1a U5b1h U5b1d U5b1d1 U5b1d1a U5b1d1b U5b1d1c U5b1d2 U5b1f U5b1f1 U5b1f1a U5b1g U5b1i U5b2 arose between 17,000 and 23,000 years ago20,040.2 ± 3,208.6; CI=95% (Behar et al., 2012) haplogroup.org and has polymorphisms in 1721 13637( + U5b polymorphisms). The clade has been found in remains dating from prehistoric times in Europe, such as the subclade U5b2c1 of La Braña man (found at the La Braña site in Spain). U5b2 is rare among French Basques (2.5%) and more frequent in the Spanish Basques.