Apr 20 2008
The mtDNA and its role in Ancestry: Part XI (mtDNA Haplogroup H)
DNA Lesson Series: The mtDNA and its role in Ancestry
mtDNA Part I - mtDNA 101
mtDNA Part II - Facts about mtDNA
mtDNA Part III - mtDNA Structure
mtDNA Part IV - Ancestral Markers
mtDNA Part V - Detecting Mutations in the mtDNA
mtDNA Part VI - mtDNA Ancestral Markers
mtDNA Part VII - The Cambridge Reference Sequence
mtDNA Part VIII - mtDNA Test Types
mtDNA Part IX - mtDNA Haplogroup Determination
mtDNA Part X - mtDNA Subclades
mtDNA Part XI - mtDNA Haplogroup H <<– you are here
mtDNA Part XII - Subclades of mtDNA Haplogroup H
mtDNA Part XIII - Distribution of Subclades of H
mtDNA Part XIV - Descendents of Maria-Theresa
mtDNA Part XV - Luke the Evangelist
mtDNA Part XVI - Empress Feodorovna
mtDNA Part XVII - James “Earthquake McGoon” McGovern
In the last blog, we introduced “Subclades”, which are the finer branches of the Haplogroup tree. One of the most well studied is mtDNA Haplogroup H. In the next few blogs, we will discuss the latest research findings for mtDNA Haplogroup H and its subclades.
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. 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 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 of 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 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.
Haplogroup H is the most prominent European Haplogroup, and the papers were able to successfully sub-classify members in 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 disctinctive 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.
In the next blog, we will discuss the features and distribution pattern of each subclade of mtDNA Haplogroup H.
