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:
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|
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.
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)
|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)||
|H2 (Eastern Europe, Caucasus, Asia)||
|H3 (Western Europe)||
|H6 (central Asia)||
Next, we will begin to wrap up our discussion of mtDNA Haplogroup H by providing a detailed Haplogroup H distribution map.
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.
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