Haplogroup H5 (mtDNA)

H5 has been dated to around 11,500 BP (9500 BC).{{cite journal | doi=10.1016/j.ajhg.2009.05.001 | pmid=19500773 | volume=84 | issue=6 | title=Correcting for purifying selection: an improved human mitochondrial molecular clock | pmc=2694979 | date=June 2009 | journal=Am. J. Hum. Genet. | pages=740–59 | last1 = Soares | first1 = P | last2 = Ermini | first2 = L | last3 = Thomson | first3 = N | display-authors = etal }} 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.{{cite journal | vauthors = Roostalu U, Kutuev I, Loogväli EL, Metspalu E, Tambets K, Reidla M, Khusnutdinova EK, Usanga E, Kivisild T, Villems R | display-authors = 6 | title = Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective | journal = Molecular Biology and Evolution | volume = 24 | issue = 2 | pages = 436–448 | date = February 2007 | pmid = 17099056 | doi = 10.1093/molbev/msl173 | doi-access = free }} 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.

H5* is present at low levels (1%–3%) throughout the Near East.{{cite journal | doi=10.1101/gr.3182305 | volume=15 | issue=1 | title=High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium | journal=Genome Research | pages=19–24 | pmid=15632086 | pmc=540273 | date=January 2005 | last1 = Pereira | first1 = L | last2 = Richards | first2 = M | last3 = Goios | first3 = A | display-authors = etal }} 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.{{cite journal |last1=Loogväli|first1=Eva-Liis|last2=Roostalu|first2=U.|last3=Malyarchuk|first3=Boris A.|display-authors = etal |date=November 2004 |title=Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia |journal=Molecular Biology and Evolution |volume=21|issue=11|pages=2012–2021 |doi=10.1093/molbev/msh209 |pmid=15254257 |doi-access=free}} However the level generally averages around 5%.{{cite journal | doi=10.1186/1471-2148-8-191 | volume=8 | title=Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East | journal=BMC Evolutionary Biology | pages=191 | pmid=18601722 | pmc=2491632 | last1 = Brandstätter | first1 = A | last2 = Zimmermann | first2 = B | last3 = Wagner | first3 = J | last4 = Göbel | first4 = T | last5 = Röck | first5 = AW | last6 = Salas | first6 = A | last7 = Carracedo | first7 = A | last8 = Parson | first8 = W| year=2008 | doi-access=free }} Although some research gives the highest levels of H5 concentration throughout Europe as being in Wales. (8.5%){{cn|date=April 2020}}

Mitochondria are key regulators of cell survival and death.{{cite journal | pmc=3056451 | pmid=21423558 | doi=10.4061/2011/709061 | volume=2011 | title=May 'mitochondrial eve' and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease? | year=2011 | journal=Int J Alzheimer's Dis | pages=1–11 | last1 = Ienco | first1 = EC | last2 = Simoncini | first2 = C | last3 = Orsucci | first3 = D | last4 = Petrucci | first4 = L | last5 = Filosto | first5 = M | last6 = Mancuso | first6 = M | last7 = Siciliano | first7 = G | doi-access=free }}

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.{{cite journal | last1 = Santoro | first1 = A | last2 = Balbi | first2 = V | last3 = Balducci | first3 = E | last4 = Pirazzini | first4 = C | last5 = Rosini | first5 = F | display-authors = etal | year = 2010 | title = Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease | journal = PLOS ONE | volume = 5 | issue = 8| page = e12037 | doi = 10.1371/journal.pone.0012037 | pmid=20700462 | pmc=2917370| bibcode = 2010PLoSO...512037S | doi-access = free }}

The one known subclade of H5 is H5a, defined by T4336C in the control region, which has its own subclades of H5a1 and H5a2. 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%. 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.{{cite journal | doi=10.1371/journal.pone.0005112 | volume=4 | issue=4 | title=New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 | journal=PLOS ONE | pages=e5112 | pmid=19340307 | pmc=2660437 | year=2009 | last1 = Alvarez-Iglesias | first1 = V | last2 = Mosquera-Miguel | first2 = A | last3 = Cerezo | first3 = M | bibcode=2009PLoSO...4.5112A | display-authors = etal | doi-access=free }} 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.

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{{cite journal |last1=Keyser |first1=Christine |last2=Bouakaze |first2=Caroline |last3=Crubézy |first3=Eric |last4=Nikolaev |first4=Valery G. |last5=Montagnon |first5=Daniel |last6=Reis |first6=Tatiana |last7=Ludes |first7=Bertrand |date=16 May 2009 |title=Ancient DNA provides new insights into the history of south Siberian Kurgan people |journal=Human Genetics |volume=126|issue=3|pages=395–410|doi=10.1007/s00439-009-0683-0|pmid=19449030 |s2cid=21347353 }} 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.

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%.{{cite journal | doi = 10.1002/elps.200500772 | last1 = Brandstätter | first1 = Anita |name-list-style=vanc| last2 = Salas | year = 2006 | first2 = A | last3 = Niederstätter | first3 = H | last4 = Gassner | first4 = C | last5 = Carracedo | first5 = A | last6 = Parson | first6 = W | title = Dissection of mitochondrial superhaplogroup H using coding region SNPs | journal = Electrophoresis | volume = 27 | issue = 13| pages = 2541–2550 | pmid = 16721903 | s2cid = 22257992 }} 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

This phylogenetic tree of haplogroup H5 subclades is drawn from Mannis van Oven, PhyloTree.[http://www.phylotree.org/ Mannis van Oven, PhyloTree]

• 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

• Thaddeus Taube belongs to a mtDNA haplogroup within the H5'36 cluster,{{cite magazine |author=Nadine Epstein |date=September–October 2012 |title=The Moment Magazine Great DNA Experiment |page=43 |url=https://momentmag.com/the-moment-magazine-great-dna-experiment/ |magazine=Moment Magazine |access-date=2024-03-07}} which in his ethnic group always indicates varieties of H5, rather than H36 or the parental level H5'36, when complete sequencing is performed.{{cite web|url=https://sites.google.com/view/ashkenazi-y-dna-and-mtdna/updated-mtdna-ancestral-lines-of-ashkenazi-jews |title=Updated mtDNA Ancestral Lines of Ashkenazi Jews |last=Wexler |first=Jeffrey D. |work=Ashkenazi Y-DNA and mtDNA |access-date=2024-03-10}}
• Alan Dershowitz carries haplogroup H5.{{cite magazine |author=Nadine Epstein |date=September–October 2012 |title=The Moment Magazine Great DNA Experiment |page=44 |url=https://momentmag.com/the-moment-magazine-great-dna-experiment/ |magazine=Moment Magazine |access-date=2024-03-07}}

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{{DEFAULTSORT:Haplogroup H5 (Mtdna)}}

Category:Human mtDNA haplogroups