Haplogroup H5 (mtDNA)

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Haplogroup H5
Possible time of origin11,500 Years ago (9500 BC)[1]
Possible place of originMiddle East/Western Caucasus
Defining mutationsC456T, T16304C[2]

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.[3]


H5 has been dated to around 11,500 BP (9500 BC).[4] 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.[5] 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,[6] suggesting that H5 may have arrived in the Caucasus with farmers from the Near East.


H5* is present at low levels (1%–3%) throughout the Near East.[7] 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.[8] However the level generally averages around 5%.[9] Although some research gives the highest levels of H5 concentration throughout Europe as being in Wales. (8.5%)[citation needed]

Alzheimer's disease[edit]

Mitochondria are key regulators of cell survival and death.[10] 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.[11]

Subclade H5a[edit]

The one known subclade of H5 is H5a, defined by T4336C in the control region, which has its own subclades of H5a1 and H5a2.[3] H5a is thought to be around 7000–8000 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%.[9] 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,[7] more recent research has shown the highest levels in Iberia, the Balkans and Finno-Scandia.[12] 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."[12] 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.[7] So a later dissemination across Europe would appear more likely if the dating is correct.

Ancient DNA[edit]

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.[6] H5a has been found in a Tagar (800 BC–100 AD) man on the Russian steppe whose Y-DNA was R1a1a [13] and in Margrethe, 11th century AD Queen of Denmark.[14]

Subclade H5a1[edit]

The subclade H5a1 is defined by the additional transition C15833T.[15] 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%.[9] In very large sample of the population of the Austrian Tyrol, H5a1 was found in 2%, whereas H5a was found at 2.9%.[16] 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.[17]


This phylogenetic tree of haplogroup H5 subclades is drawn from Mannis van Oven, PhyloTree.[18]

  • H5'36
    • H5
      • H5a
        • H5a1
        • H5a2
      • H5b
      • H5c
        • H5c1
          • H5c1a
          • H5c1b
        • H5c2
      • H5d
      • H5e
      • H5f
      • H5g
      • H5h
      • H5i
      • H5k
      • H5l
      • H5m
      • H5n
      • H5o
      • H5p
      • H5u


  1. ^ Soares, P; Ermini, L; Thomson, N; Mormina, M; Rito, T; Röhl, A; Salas, A; Oppenheimer, S; MacAulay, V (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". American Journal of Human Genetics. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  2. ^ van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
  3. ^ a b Genebaseteam. "The mtDNA and its role in Ancestry: Part XI (mtDNA Haplogroup H)". Genebase Systems. Archived from the original on February 8, 2009. Retrieved December 24, 2008.
  4. ^ Soares, P; Ermini, L; Thomson, N; et al. (June 2009). "Correcting for purifying selection: an improved human mitochondrial molecular clock". Am. J. Hum. Genet. 84 (6): 740–59. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  5. ^ U. Roostalu et al, Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective, Molecular Biology and Evolution, vol. 24, no. 2 (2007), pp. 436-448
  6. ^ a b 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.
  7. ^ a b c Pereira, L; Richards, M; Goios, A; et al. (January 2005). "High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium". Genome Research. 15 (1): 19–24. doi:10.1101/gr.3182305. PMC 540273. PMID 15632086.
  8. ^ Eva-Liis Loogvali et al., Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia, Molecular Biology and Evolution, vol. 21 no. 11 (2004), pp. 2012–2021; U. Roostalu et al, Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective, Molecular Biology and Evolution, vol. 24, no. 2 (2007), pp. 436-448.
  9. ^ a b c Brandstätter, A; Zimmermann, B; Wagner, J; Göbel, T; Röck, AW; Salas, A; Carracedo, A; Parson, W (2008). "Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East". BMC Evolutionary Biology. 8: 191. doi:10.1186/1471-2148-8-191. PMC 2491632. PMID 18601722.
  10. ^ Ienco, EC; Simoncini, C; Orsucci, D; Petrucci, L; Filosto, M; Mancuso, M; Siciliano, G (2011). "May 'mitochondrial eve' and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?". Int J Alzheimer's Dis. 2011: 1–11. doi:10.4061/2011/709061. PMC 3056451. PMID 21423558.
  11. ^ Santoro, A; Balbi, V; Balducci, E; Pirazzini, C; Rosini, F; et al. (2010). "Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease". PLOS ONE. 5 (8): e12037. Bibcode:2010PLoSO...512037S. doi:10.1371/journal.pone.0012037. PMC 2917370. PMID 20700462.
  12. ^ a b Alvarez-Iglesias, V; Mosquera-Miguel, A; Cerezo, M; et al. (2009). "New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0". PLOS ONE. 4 (4): e5112. Bibcode:2009PLoSO...4.5112A. doi:10.1371/journal.pone.0005112. PMC 2660437. PMID 19340307.
  13. ^ C. Keyser et al., Ancient DNA provides new insights into the history of south Siberian Kurgan people, Human Genetics (published online 16 May 2009)
  14. ^ 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.
  15. ^ E.-L. Loogväli, U. Roostalu, et al., Molecular Biology and Evolution vol. 21, (2004), pp. 2012–2021.
  16. ^ Brandstätter A, Salas A, Niederstätter H, Gassner C, Carracedo A, Parson W (2006). "Dissection of mitochondrial superhaplogroup H using coding region SNPs". Electrophoresis. 27 (13): 2541–2550. doi:10.1002/elps.200500772. PMID 16721903. S2CID 22257992.
  17. ^ 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
  18. ^ Mannis van Oven, PhyloTree

See also[edit]

Phylogenetic 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   O A S R   I W X Y
C Z B F R0   pre-JT   P   U