Learn about mtDNA Haplogroup H
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Learn about mtDNA Haplogroup H
mtDNA Haplogroup H is one of the most dominant family groups in Europe
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mtDNA Haplogroup H

Classification into Haplogroup H is determine by the SNPs found in your HVR1, HVR2 and Coding Region Backbone SNP Panel.  The following table illustrates how your SNPs can determine your final haplogroup:



Once your membership in haplogroup H is confirmed, you can further refine it through H subclade testing.  The following table illustrates how your SNPs can determine your H subclade:



Who’s who in the field of Haplogroup H Research

Studies have shown that Europeans fall into one of several main mtDNA haplogroups:  H, I, J, K, N1, T, U2e, U3, Ur, X, W, U5, and V.  mtDNA Haplogroup H is one of the most dominant family groups in Europe, representing approximately 40% of the mtDNA gene pool in populations in various parts of Europe and extending as far as western Asia.  Recent publications by the following researchers have provided significant advances in our understanding of mtDNA Haplogroup H and its subclades:

  • Roostalu et al. from the University of Tartu and Estonian Biocentre, Estonia
  • Brandstatter et al. from the Innsbruck Medical University, Austria
  • Pereira et al. from Universidade to Porto, Portugal
  • Grignani et al. from Universita di Pavia, Italy
  • Loogvali et al. from University of Tartu, Estonia
  • Achilli et al. from Universita di Pavia, Italy

Table 1: Top peer reviewed research publications for mtDNA Haplogroup H 

This table lists the most significant papers for Haplogroup H in peer reviewed journals, with links to access the original publications.  These papers have provided significant advances in the current understanding of Haplogroup H and form the basis for the Haplogroup H subclade test panel. 

Name of Scientific Article Scientific Journal
Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.  Roostalu U. et al Click here to view and download a copy of the original publication Mol Biol Evol. 2007 Feb;24(2):436-48.
Dissection of mitochondrial superhaplogroup H using coding region SNPs.  Brandstätter A et al  Click here to read abstract Electrophoresis. 2006 Jul;27(13):2541-50.
Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on Eurasian scale.  Pereira L et al Click here to read abstract Forensic Sci Int. 2006 May 25;159(1):43-50. Epub 2005 Aug 1.
Subtyping mtDNA haplogroup H by SnaPshot minisequencing and its application in forensic individual identification.  Grignani P et al Click here to read abstract Int J Legal Med. 2006 May;120(3):151-6. Epub 2005 Dec 7.
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.  Pereira L et al Click here to view and download a copy of the original publication Genome Res. 2005 Jan;15(1):19-24.
Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.  Loogväli EL et al  Click here to view and download a copy of the original publication Mol Biol Evol. 2004 Nov;21(11):2012-21. Epub 2004 Jul 14.
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.  Achilli A et al Click here to view and download a copy of the original publication Am J Hum Genet. 2004 Nov;75(5):910-8. Epub 2004 Sep 20.


Let’s summarize the peer reviewed findings to date for Haplogroup H:

Several of the recent papers aim to provide resolution for the distribution of Haplogroup H and its subclades and begin to answer the fundamental questions about the origins of Haplogroup H:  where did it come from and where is it most concentrated in Eurasia?

To follow is a summary of what is currently known about mtDNA Haplogroup H.  As more details are confirmed, this list will be updated: 

Category What is currently known about Haplogroup H
Origins Haplogroup H originated in Near and Middle east prior to 30,000 years ago and expanded within the Near East 25,000 to 30,000 years ago.
Haplogroup H first entered Europe 20,000 to 25,000 years ago (at the peak of the ice age) in association with a second Paleolithic wave (possibly contemporary with the diffusion of the Gravettian technology 20,000 to 25,000 years ago).
19,000 to 22,000 years ago during the last glacial maximum (LGM), the climate became significantly colder and dryer.  During this cold peak, extreme deserts occupied most of Europe and Northern Asia was covered by steppe-tundra, forcing early the Paleolithic populations, consisting of Haplogroup H ancestors of Northern and Central Europe to retreat to the south, to the refugium areas in the western Caucasus and southern European peninsulas.
15,000 years ago, climatic conditions improved.  Haplogroup H was strongly involved in the late-glacial expansion from ice-age refugia after the LGM.
Due to its high frequency and wide distribution, Haplogroup H is implicated to have participated in all subsequent episodes of putative gene flow in western Eurasia (such as the Neolithic diffusion of agriculture from the Near East, the expansion of the Kurgan culture from southern Ukraine, the recent events of gene flow to northern India).
Distribution Wide geographic distribution
Haplogroup H is the most common and frequent haplogroup in European Caucasian populations (western Eurasia)
High frequency.  Haplogroup H accounts for approximately 40% of total mtDNA pool variation for most of Europe.  Most prevalent haplogroup in all European populations except the Saami
Haplogroup H exhibits a characteristic distribution pattern of Northwest to Southeast.  The frequency of Haplogroup H is highest in the Northwest and declines towards East and South, reaching 20% in the Near East and Caucasus, <10% in the Gulf and 5% to 10% in Northern India and Central Asia.

Despite the broad geographic distribution pattern of Haplogroup H, further investigation of each Subclade of Haplogroup H provides further resolution and reveals a much more specific and distinctive distribution pattern for each Subclade of Haplogroup H.

mtDNA Haplogroup H is the most prominent maternal European Haplogroup, and the papers were able to successfully sub-classify members of Haplogroup H into subclades H1 to H16 based on characteristic SNPs in the mtDNA, many of which are located in the coding region.  Next, let’s talk about the Subclades of Haplogroup H.

Subclades of Haplogroup H

The sub-clades of Haplogroup H surprisingly show more restricted and distinctive regional geographic distributions. 

Based on the recent papers for defining the subclades of Haplogroup H, a subclade test panel is now available to test for sub-clades H1 to H16.  Individuals who are confirmed to belong to the Haplogroup H family can now take the H Subclade SNP Test to find out which sub-clade of Haplogroup H they belong to. 

Subclades H1 to H16 account for over 70% of individuals who belong to Haplogroup H.  The remaining 30% of individuals who belong to Haplogroup H belong to yet unidentified subclades of Haplogroup H.  As the studies progress, more subclades of H will be identified and will provide further classification.

The subclades of Haplogroup H can be defined by the following panel of coding region SNPs:

Location of SNP Mutation Haplogroup H Subclade
1438 A>G H2
2259 C>T H13
3010 G>A H1
3915 G>A H6
3936 C>T H12
3992 C>T H4
4310 A>G H9
4336 T>C H5a
4769 A>G H2a
4793 A>G H7
6253 T>C H15
6776 T>C H3
8448 T>C H11
10394 C>T H16
11377 G>A H14
13101 A>C H8
14470 T>A H10

The mtDNA Haplogroup H Subclade Tree:

The 16 subclades of Haplogroup H can be summarized in the following phylogenetic tree.  Click here to view a more detailed version of the mtDNA Haplogroup H Subclade Tree.

 

Next, we will discuss the features and distribution pattern of each subclade of mtDNA Haplogroup H.


Subclades of mtDNA Haplogroup H

Let’s take a closer look at the Subclades of H

Due to the large size of Haplogroup H and its wide distribution, there has been much research recently on the sub-clades of H, which surprisingly shows more restricted and regional geographic distributions. 

A study of the mtDNA of Haplogroup H individuals by examining the HVR1, HVR2 and control region of the mtDNA reveals a very large number of independent sub-branches, giving rise to subclades which have several further sub-branches themselves.  Studies to date reveal defined geographical patterns for Subclades H1 and H3.  All other subclades of H are found at a lower frequency and studies to reveal detectable geographic patterns are still ongoing. 


The following table summarizes what is known today about the subclades of Haplogroup H: (this table is based on a summary of current research published in peer reviewed journals and will be updated as more scientific data becomes available for the subclades of H)

Subclade Description
H1 (Western Europe and Slavic speaking East Europeans, H1a and H1b are found almost exclusively in Europe, with only traces found in Turks outside Europe)
  1. Largest subclade (branch) of mtDNA Haplogroup H.
  2. Represents approximately 30% of people in Haplogroup H.  13% of the total European mtDNA pool belongs to this branch.
  3. Originated in Western Europe. 
  4. Almost exclusively European.
  5. Approximately 13,000 years old.
  6. Highest frequency in Western Europe, having expanded after the LGM from the Franco-cantabrian refugium. 
  7. Spread northwards fairly close to the Atlantic coastline into the British Isles.
  8. H1 is most frequent in the Iberian Peninsula
  9. Centered in Iberia and surrounding areas, covering about 46% of local Haplogroup H lineages.  In the Near East, frequency of H1 does not exceed 6% of all Haplogroup H subclades
  10. Has a frequency peak among the maternal lineages of the Basques of Spain (27.8%).  Very high frequencies in the rest of Iberia (17.7% to 24.3%), Morocco (19.2%) and Sardinia (17.9%)
  11. Decreasing in frequency toward the northeast and southeast. 
  12. Overall gradient with peak centered at the most southwestern edge of Europe and declining frequencies towards both the northeast and southeast.
  13. The distribution of H1 provides further confirmation regarding the origins of Europeans, suggesting that the Franco-Cantabrian refuge area was the source of late-glacial expansion of hunter-gatherers that repopulated much of Central and Northern Europe from approximately 13,000 years ago.
  14. The H1b sub-branch is detected at the highest frequency in Eastern Europe (7% of haplogroup H), and North Central Europe (5% of H).  It is also found in 5% of Haplogroup H individuals in Siberian Mansis.
  15. The H1f sub-branch is a rare subclade that is found in northern central Finns.  Makes up to 25% of the Finish Haplogroup H genomes of Finnila, Lehtonen, and Majamaa and absent elsewhere in Europe.
H2 (Eastern Europe, Caucasus, Asia)
  1. H2 is found in the highest frequency in Eastern Europe and the Caucasus.
  2. Most likely dispersed from Western Europe. 
  3. H2a is found most frequently in Eastern Europe and at low frequency in Western Europe (6.5% in Eastern and 1.1% in Western European Haplogroup H genomes).  Unlike its ancestor, H2, which did not spread to Asia, the spread of H2a extends to Central Asia and mimics the phylogeography of Y-chromosomal R1a. 
  4. The H2a1 branch, which is defined by a transition at position 951 is found most frequently in Eastern Europe as well as Asia.
  5. Coalescence age falls to the period of postglacial recolonization of Europe.
  6. The mtDNA bearing the “St. Luke” motif 16235, 16291 (vernesi et al. 2001) belongs to subclade H2 and is most frequent in Germany and Scotland.  The St. Luke motif is the mtDNA motif of “Luke the Evangelist”.  Click here to download and print an original copy of the publication.
H3 (Western Europe)
  1. H3 is the second most common subclade of H.
  2. Haplogroup H gave rise to subclade H3 in Western Europe.
  3. H3 is found more frequently in the Western Europe than in the Eastern Europe.  Mainly localized in Western Europe (11.7%), having expanded after the LGM from the Franco-cantabrian refugium. 
  4. H3 is extremely rare in Eastern Europe and virtually absent in Anatolia and the Near East.  Resembles the phylogeography of the spread of Y-chromosomal Haplogroup R1b. 
  5. Its highest frequency is in the Iberian Peninsula, 17% of haplogroup H, the highest detected so far.
  6. Spread northwards fairly close to the Atlantic coastline into the British Isles.
  7. Similar pattern to H1.
  8. 9000 to 11,000 years old.
  9. The distribution of H1 provides further confirmation regarding the origins of Europeans, suggesting that the Franco-Cantabrian refuge areas was the source of late-glacial expansion of hunter-gatherers that repopulated much of Central and Northern Europe from approximately 15,000 years ago.
  10. H3 represents a much smaller fraction of H than H1. 
  11. High frequencies found among the Basques of Spain (13.9%), in Galicia (8.3%) and Sardinia (8.5%) (in the same areas where H1 is also most frequent).
H4
  1. Infrequent/minor subclade of H.
  2. Found in low frequencies in Europe and the Near East and also present in the Caucasus.
  3. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic.
  4. Further research will better resolve the geographical distribution pattern of this subclade.
H5
  1. H5 is present at low levels throughout the Near East and may have evolved there, spreading later into Europe. 
  2. 11,500 years old.  Its ancestor was identified as a putative late-glacial founder type.  Found in Iberia, central, eastern and southeast Europe and less frequent in northwest Europe.
  3. H5a is found in the highest frequency on the central European plain and dates to 7000 to 8000 years.  Fairly evenly distributed at low levels across Europe, but is absent from the Caucasus and the Near East, suggesting an European origin for this branch.  Distributed by late-glacial dispersals, may trace a distinct dispersal route into Central and Eastern Europe. 
H6 (central Asia)
  1. Very old branch of H, first arose approximately 40,000 years ago, likely diverged from H in Central Asia.
  2. Although H6 is likely one of the oldest subclades of Haplogroup H, it is one of the latest subclades to expand into Europe, likely migrated into Europe approximately 5000 years ago.
  3. Diverged to Asia very early.  Coalescence age of H6 in Central Asians is very deep, 40,000 years.  Asian branch of H6 is highly divergent and seems to among the oldest in Haplogroup H.
  4. Flow of maternal lineages south of the Caspian and the Black Sea in addition to well known long lasting migrations of pastoral nomads alongside the steppe belt that connects the Danube Basin, over the Pontic-Caspian, with Central Asia, Altay, and Manchuria.
  5. Most frequent among the identified subclades of Haplogroup H in Central Asia.
  6. Common in Eastern Europe and the Caucasus (may have dispersed from western Europe).
  7. The basal type of H6 is exclusively European and there is a single derived type that is common in Eastern Europe and the Caucasus.
  8. Not found in Near Eastern samples.  
  9. The H6b branch is very rare in Europe.  Found in Central Asian/Altaian Populations.  Very distinctly divergent haplotypes.  Reflects a long-time separation of Asian and European H6 mtDNA or an earlier expansion of H6 in the eastern part to its present range. 
H7
  1. Infrequent/minor subclade
  2. Found in Europe and the Near East and also present in the Caucasus.
  3. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic.
  4. Further research will reveal the history and geographical distribution pattern.
H8
  1. H8 is found mainly in Near East and Central Asia.
  2. Very rare in Europe.
  3. Flow of maternal lineages south of the Caspian and the Black Sea in addition to well known long lasting migrations of pastoral nomads alongside the steppe belt that connects the Danube Basin, over the Pontic-Caspian, with Central Asia, Altay, and Manchuria.
  4. Found in Central Asian/Altaian Populations.  Very distinctly divergent haplotypes.  Reflects a long-time separation of Asian and European H8 mtDNA or an earlier expansion of H8 in the eastern part to its present range. 
H9
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H10
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H11
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H12
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H13
  1. Infrequent/minor subclade
  2. Found in low frequencies in Europe and the Near East and also present in the Caucasus.
  3. Entered Europe around the LGM and/or during later dispersal from the near East, such as the Neolithic.
  4. Highest frequency in Daghestan and in Georgia.
  5. Present in the southern Caucasus and Near East populations
H14
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H15
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.
H16
  1. Infrequent/minor subclade of H.  Further research will better resolve the geographical distribution pattern of this subclade.

Next, we will begin to wrap up our discussion of mtDNA Haplogroup H by providing a detailed Haplogroup H distribution map.

Distribution of Subclades of H


Let's discuss what is known about the geographical distribution pattern of the Subclades of H based on the latest peer reviewed research data and provide a summary reference table and map for the Subclades of H which you can download and print.

Geographical Distribution of the Subclades of H

The following reference table summarizes what is known today about the geographical distribution of the Subclades of Haplogroup H.  The studies were conducted by sampling the DNA of indigenous populations from around Europe, the Caucasus and Central Asia and determining which percentage belonged to Haplogroup H versus other Haplogroup types.  For individuals who were confirmed to belong to Haplogroup H, further analysis was performed in the coding region of the mtDNA to determine which Subclade of H they belonged to in order to derive an understanding of the geographical distribution pattern of the individual Subclades of H.

As more data on the Subclades of H become available, this table will be updated.

The following reference map illustrates how Haplogroup H is distributed throughout Europe and also summarizes the distribution pattern of the Subclades of H.


To follow are some notable people in history who belonged to mtDNA haplogroup H:

Descendents of Maria-Theresa
Luke the Evangelist
Empress Feodorovna
James "Earthquake McGoon" McGovern

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Learn about mtDNA Haplogroup H. Genebase Tutorials. Retrieved May 18, 2013, from http://www.genebase.com/learning/article/20
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