In human mitochondrial genetics, Haplogroup H5 is a human mitochondrial DNA (mtDNA) haplogroup descended from Haplogroup H (mtDNA). H5 is defined by T16304C in the HVR1 region and 456 in the HVR2 region.

Origin H5 has been dated to around 11,500 BP (9500 BC). It appears to be most frequent and diverse in the Western Caucasus, so an origin there has been suggested, while its subclade H5a appears European. However, samples of mtDNA with T16304C in the HVR1 region have been found in four individuals of around 6800 BC from the Pre-Pottery Neolithic B site of Tell Halula, Syria,Fernández, E. et al., Mitochondrial DNA genetic relationships at the ancient Neolithic site of Tell Halula, Forensic Science International: Genetics Supplement Series, vol.1, no. 1 (2008), pp. 271–273. suggesting that H5 may have arrived in the Caucasus with farmers from the Near East.

Distribution H5* is present at low levels (1%–3%) throughout the Near East. H5* is most frequent in the Caucasus, forming over 20% of the haplogroup H gene pool in Karatchaians-Balkarians and Georgians – people living in the immediate vicinity of the two sides of the High Caucasus. In Europe estimated levels vary from a total absence in Volga-Uralic Finno-Ugrians to 8% in Slovaks and French. However the level generally averages around 5%. Although some research gives the highest levels of H5 concentration throughout Europe as being in Wales. (8.5%)

Alzheimer's disease Mitochondria are key regulators of cell survival and death. The most recent report about a possible link between Alzheimer's disease (AD) and mtDNA genotypes might show evidence for subhaplogroup H5 as a risk factor for late onset AD.

Subclade H5a H5a, the first subclade of H5 to be named, is defined by T4336C in the control region and has its own subclades, including H5a1 and H5a2. H5a is thought to be around 7,000–8,000 years old; in other words, the mutation T4336C probably occurred c. 5500 BC. It is fairly evenly distributed at low levels across Europe. The average in samples from Austria, Germany, Hungary, Macedonia , and Romania was 2.4%. Yet it is almost absent from the Caucasus and the Near East, suggesting a European origin. Although it was initially thought to have its highest level on the central European plain, more recent research has shown the highest levels in Iberia, the Balkans and Finno-Scandia. The British Isles was excluded from the latter study, but the former showed that H5a does occur there.

Álvarez-Iglesias et al. observed a frequency peak for H5a in the Franco-Cantabrian region decreasing towards East Europe and commented that "This is compatible with a process of demographic repopulation of Europe after the LGM period centered in this climatic and geographic refuge." However such a scenario would be too early for the date of c. 5500 BC. calculated by Luísa Pereira, Martin Richards, Ana Goios, et al. So a later dissemination across Europe would appear more likely if the dating is correct.

Ancient DNA

Studies of ancient DNA have found H5 in four individuals of around 6800 BC from the Pre-pottery Neolithic B site of Tell Halula, Syria. H5a has been found in a Tagar (800 BC–100 AD) man on the Russian steppe whose Y-DNA was R1a1a and in Margrethe, 11th century AD Queen of Denmark.J. Dissing, The last Viking King: a royal maternity case solved by ancient DNA analysis, Forensic Science International, vol. 166, no. 1 (Feb 2007), pp. 21-7.

Subclade H5a1

The subclade H5a1 is defined by the additional transition C15833T. It appears to occur fairly evenly across Europe at slightly lower levels than its parent. The population average in samples from Austria, Germany, Hungary, Macedonia and Romania was 1.8%. In very large sample of the population of the Austrian Tyrol, H5a1 was found in 2%, whereas H5a was found at 2.9%. Peng et al. (2018) found H5a1 in 2% (1/50) of a sample of Pamiris from Gorno-Badakhshan Autonomous Region of Tajikistan and in 1.9% (1/54) of a sample of Kyrgyz from Artux.Peng, MS., Xu, W., Song, JJ. et al., "Mitochondrial genomes uncover the maternal history of the Pamir populations." Eur J Hum Genet 26, 124–136 (2018). https://doi.org/10.1038/s41431-017-0028-8

Tree This phylogenetic tree of haplogroup H5 subclades is drawn from Mannis van Oven, PhyloTree. Mannis van Oven, PhyloTree

H5'36 H5 H5a H5a1 H5a1a H5a1b H5a1c H5a1c1 H5a1c1a H5a1c2 H5a1d H5a1e H5a1f H5a1g H5a1g1 H5a1g1a H5a1g2 H5a1h H5a1i H5a1j H5a1k H5a1m H5a1n H5a1p H5a1q H5a2 H5a2a H5a3 H5a3a H5a3a1 H5a3a2 H5a3a3 H5a3b H5a4 H5a4a H5a4a1 H5a4a1a H5a5 H5a6 H5a6a H5a7 H5a8 H5a9 H5b H5b1 H5b2 H5b3 H5b4 H5b5 H5c H5c1 H5c1a H5c1b H5c2 H5d H5e H5e1 H5e1a H5e1a1 H5e1b H5f H5g H5h H5i H5j H5k H5l H5m H5n H5o H5p H5-C16192T H5q H5-T16311C! H5r H5r1 H5r2 H5s H5t H5u H5u1 H5-G709A H5v

Notable members Thaddeus Taube belongs to a mtDNA haplogroup within the H5'36 cluster, which in his ethnic group always indicates varieties of H5, rather than H36 or the parental level H5'36, when complete sequencing is performed. Alan Dershowitz carries haplogroup H5.

See also Genealogical DNA test Genetic genealogy Human mitochondrial genetics Population genetics Human mitochondrial DNA haplogroups

References