In human genetics, Haplogroup U is a human [Mitochondrial DNA Haplogroups? mitochondrial DNA (mtDNA) haplogroup].
Haplogroup U is believed to have arisen somewhere in Europe or the Near East approximately 55,000 years before present. It is found throughout Europe, and contains many subgroups, each reflecting unique geography and history. Among its subgroups is Haplogroup K.
Cheddar Man, a male from 7150 BC whose remains were found in Cheddar Gorge, Somerset, England was shown to belong to haplogroup U.
Haplogroup U is subdivided into Haplogroups U1-U6 and Haplogroup K.
U4 specific mitochondrial haplogroups are typically found in different regions of the world, and this is due to unique population histories. In the process of spreading around the world, many populations—with their special mitochondrial haplogroups—became isolated, and specific haplogroups concentrated in geographic regions. Today, we have identified certain haplogroups that originated in Africa, Europe, Asia, the islands of the Pacific, the Americas, and even particular ethnic groups. Of course, haplogroups that are specific to one region are sometimes found in another, but this is due to recent migration.
The mitochondrial super-haplogroup U encompasses haplogroups U1-U7 and haplogroup K. Haplogroup U4 has its origin in the Upper Paleolithic, 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, with its own multiple lineages nested within, is the oldest European-specific haplogroup, and its origin dates to approximately 50,000 years ago. Most likely arising in the Near East, and spreading into Europe in a very early expansion, the presence of haplogroup U5 in Europe pre-dates the expansion of agriculture in Europe. Haplogroup U5a -- a lineage within U5 -- is somewhat younger, dating to approximately 40,000 years ago, and is mostly distributed in southern Europe. Interestingly, individuals with haplogroup U5 and U5a may have been come in contact with Neandertals living in Europe at the time.
Haplogroup U6, is common in North Africa, and may suggest a "reverse migration" from Europe.
Phylogeographic analysis suggest that U8a, a rare subgroup of mitochondrial haplogroup U8, had two expansion periods in Europe, the first, from a south-western area including the Iberian peninsula and Mediterranean France before 30,000 years ago, and the second, from Central Europe around 15,000-10,000 years ago.
The Basque people have the most ancestral phylogeny in Europe for the subhaplogroup U8a in the Upper Palaeolithic era. Most probable, their primitive founders came from West Asia.
It has been demonstrated that Basques show the oldest lineages in Europe for subhaplogroup U8a. Coalescence times for these lineages suggest their presence in the Basque country since the Upper Paleolithic. The European U8 phylogeography is congruent with the supposition that Basques could have participated in demographic re-expansions to repopulate central Europe in the last interglacial periods.
The Basque population also has the highest prevalence of blood group O and Rh negative in Europe - see Blood Groups and Anthropology.
North American white mitochondrial haplogroups in prostate and renal cancer
J Urol. 2006 Feb;175(2):468-72; discussion 472-3. Booker LM, Habermacher GM, Jessie BC, Sun QC, Baumann AK, Amin M, Lim SD, Fernandez-Golarz C, Lyles RH, Brown MD, Marshall FF, Petros JA.
- PURPOSE: While the mitochondrion is known to be a key mediator of apoptosis, there has been little inquiry into the inheritance pattern of mitochondria in patients with cancer. We compared the mtDNA haplotype in patients with prostate and renal cancer to that in controls to determine if there is an association between mitochondrial genotype and cancer.
- CONCLUSIONS: The inheritance of mitochondrial haplogroup U is associated with an approximately 2-fold increased risk of prostate cancer and 2.5-fold increased risk of renal cancer in white North American individuals. Therefore, individuals with this mitochondrial haplotype are in a high risk group. Because mitochondrial haplogroup U is found in 9.35% of the white United States population, there are more than 20 million individuals in this high risk group.
The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country
BMC Genomics 2006, 7:124 Ana M Gonzalez , Oscar Garcia , Jose M Larruga and Vicente M Cabrera
- Background It is customary, in population genetics studies, to consider Basques as the direct descendants of the Paleolithic Europeans. However, until now there is not an irrefutable genetic proof to support this supposition. Even studies based on mitochondrial DNA (mtDNA), an ideal molecule to construct datable maternal genealogies, have failed in this attempt. It could be possible that incoming gene flow has replaced the Basque ancient lineages but it could be also possible that these lineages have not been detected due to a lack of resolution of the Basque mtDNA genealogies. To deal with this possibility we analyzed here the mtDNA of a large sample of autochthonous Basques using mtDNA genomic sequencing for those lineages that could not be unequivocally classified by diagnostic RFLP analysis and control region (HVSI and HVSII) sequencing.
Results We show that Basques have the most ancestral phylogeny in Europe for the rare mitochondrial subhaplogroup U8a. Divergence times situate the Basque origin of this lineage in the Upper Palaeolithic. Most probable, their primitive founders came from West Asia. The lack of U8a lineages in Africa pointing to an European and not a North African route of entrance. Phylogeographic analysis suggest that U8a had two expansion periods in Europe, the first, from a south-western area including the Iberian peninsula and Mediterranean France before 30,000 years ago, and the second, from Central Europe around 15,000-10,000 years ago.
Conclusions It has been demonstrated, for the first time, that Basques show the oldest lineages in Europe for subhaplogroup U8a. Coalescence times for these lineages suggest their presence in the Basque country since the Upper Paleolithic. The European U8 phylogeography is congruent with the supposition that Basques could have participated in demographic re-expansions to repopulate central Europe in the last interglacial periods.