Haplogroup H (mtDNA): Wikis


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Haplogroup H
Time of origin 25,000-30,000 YBP
Place of origin Southwest Asia/Middle East [1]
Ancestor HV[1]
Descendants H1, H2, H3, H4, H5, H6, H7, H8, H9, H10, H11, H12, H13, H14, H15, H16, H17, H18, H19, H20, H21, H25
Defining mutations A2706A, C7028C[2]

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that originated in Southwest Asia/Middle East [1] 25,000-30,000 YBP.



Haplogroup H is a descendant of haplogroup HV. The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H. Several independent studies conclude that haplogroup H probably evolved in West Asia c. 30,000 years ago having arrived in Europe c. 20-25,000 years ago, spreading rapidly to the southwest of the continent.[3][4] This would make its arrival roughly contemporary with Gravettian culture. They are also coincident in that the spread of subclades H1, H3 and the sister haplogroup V reflect a second intra-European expansion from the Franco-Cantabrian region after the last glacial maximum, c. 13,000 years ago.[3][5]

In July 2008, it was published that the ancient mtDNA from an individual called Paglicci 23 whose remains were dated to 28,000 years ago and excavated from Paglicci Cave (Apulia, Italy) had been found to be identical to the Cambridge Reference Sequence in HVR1. The haplotype was different from all persons that had handled the Paglicci 23 remains since their discovery[6].


Haplogroup H is the most common mtDNA haplogroup in Europe.[7] About one half of Europeans are of mtDNA haplogroup H. The haplogroup is also common in North Africa and the Middle East.[8] The majority of the European populations have an overall haplogroup H frequency of 40%–50%. Frequencies decrease in the southeast of the continent, reaching 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Persian Gulf, Northern India and Central Asia.[5][9]

Among all these clades, the subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the Magdalenian expansion from SW Europe c. 13,000 years ago [3]:

Subhaplogroup H1 encompasses an important fraction of Western European mtDNA, reaching its peak among Basques (27.8%) and being also very important among other Iberians, North Africans and Sardinians. It is anyhow above 10% in many other parts of Europe (France, British islands, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent.[5] Its subclade H1b is most common in Eastern Europe and NW Siberia.[10]

Subhaplogroup H3 represents a smaller fraction of European genome than H1 but has a somewhat similar distribution with peak among Basques (13.9%), Galicians (8.3%) and Sardinians (8.5%). Its importance decreases towards the northeast of the continent though.[5] Studies have suggested haplogroup H3 is highly protective against AIDS progression.[11]

The remaining subclades are much less frequent:

Subhaplogroup H5 may have evolved in West Asia, where is more frequent in its non-derived form. But its subclade H5a is most common in the Central European plain[3] and in the Franco Cantabrian Region.[12]

Subhaplogroups H2, H6 and H8 are somewhat common in Eastern Europe and the Caucasus.[3] They may be the most common H subclades among Central Asians and have also been found in West Asia.[10] H2a5 has been found only in Basque Country, Spain.[13]

Subhaplogroups H4, H7 and H13 are present in both Europe and West Asia, the latter being also found in the Caucasus. They are quite rare.[3] H4 is found mostly in Iberia.[13]

Subhaplogroup H11 is commonly found in Central Europe.[13]

Subhaplogroups H18 occurs on the Arabian Peninsula. [14]

Subhaplogroups H20 and H21 are both found in the Caucasus region.[14]




This phylogenetic tree of haplogroup H subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

Popular culture

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer uses the very similar name Helina in his book Origins of the British.

See also

Human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1 L2 L3   L4 L5 L6
  M N  
CZ D E G Q   A S   R   I W X Y
C Z B F R0   pre-JT P  U
H V J T Former Clusters IWX


  1. ^ a b c Achilli et al.(2004), The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool, "American Journal of Human Genetics", 2004 November; 75(5): 911.
  2. ^ a b 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 doi:10.1002/humu.20921. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved 2009-05-20.  |url=http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1|doi_brokendate=2009-07-06 }}
  3. ^ a b c d e f L. Pereira et al., High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Cold Spring Harbor Laboratory Press, 2005.
  4. ^ M. Richards et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool. AJHG, 2000.
  5. ^ a b c d A. Achilli et al., The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. AJHG, 2004.
  6. ^ D. Caramelli et al., A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences. PLOS ONE, 2008
  7. ^ Ghezzi et al. (2005), Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians, European Journal of Human Genetics (2005) 13, 748–752.
  8. ^ Atlas of the Human Journey - The Genographic Project
  9. ^ Metspalu, Mait; Toomas Kivisild, Ene Metspalu, Jüri Parik, Georgi Hudjashov, Katrin Kaldma, Piia Serk, Monika Karmin, Doron M Behar, M Thomas P Gilbert, Phillip Endicott, Sarabjit Mastana, Surinder S Papiha, Karl Skorecki, Antonio Torroni, and Richard Villems (31 Aug 2004). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics 5 (26). PMID 15339343 doi:110.1186/1471-2156-5-26.. http://www.biomedcentral.com/1471-2156/5/26. Retrieved 2009-08-07.  
  10. ^ a b Eva-Liis Loogväli et al., Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia. Society for Molecular Biology and Evolution, 2004.
  11. ^ Mitochondrial DNA haplogroups influence AIDS progression.
  12. ^ http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005112
  13. ^ a b c Álvarez-Iglesias, Vanesa; Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Óscar García, Luis Pérez-Jurado, Ángel Carracedo, and Antonio Salas (02 Apr 2009). "New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0". PLoS ONE 4 (4): e5112-e5112. PMID 19340307{{doi:10.1371/journal.pone.0005112}}. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2660437#pone.0005112.s007. Retrieved 2009-08-10.  
  14. ^ a b Ennafaa, Hajer; Vicente M Cabrera (25 Jan 2009). "Mitochondrial DNA haplogroup H structure in North Africa". HBMC Genetics 10 (8). PMID 19243582 doi:10.1186/1471-2156-10-8. http://www.biomedcentral.com/1471-2156/10/8.  

External links

  • Haplogroup H1
    • Hope The H1 mtDNA Haplogroup Project


Up to date as of February 01, 2010

From Familypedia

Haplogroup H
Time of origin unknown
Place of origin Western Eurasia
Ancestral haplogroup HV
Defining mutations none, CRS is in haplogroup H

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup.

The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H.

About one half of Europeans are of mt-DNA haplogroup H. The haplogroup is also common in North Africa and the Middle East. [1] According to FamilyTreeDNA [2], currently the largest genetic genealogy testing firm, approximately 32% of the their database is haplogroup H. Of those H results, approximately 21% of them has a 519C mutation, which is volatile and generally not useful in characterizing subclades. The 4336 tRNA nucleotide position variant in haplogroup H has been shown to be associated with late-onset Alzheimer's disease[3].

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena.


Relationship to other haplogroups

Haplogroup H is a descendant of haplogroup HV.

Human mitochondrial DNA (mtDNA) haplogroups

  most recent common mt-ancestor    
L0   L1  
L2 L3   L4 L5 L6 L7
  M N  
CZ D E G Q   A I O   R   S W X Y
C Z B F pre-HV   pre-JT P  UK


Haplogroup H is divided into various subclades.

  • Haplogroup H
    • H4
      • H4a
    • H14
    • H5
      • H5a
        • H5a1
    • H6
      • H6a
        • H6a1
      • H6b
      • H6c
    • H8
    • H11
    • H15
    • H2
      • H2a
        • H2a1
      • H2b
      • H2c
    • H7
    • H9
    • H10
    • H1
      • H1a
      • H1b
    • H3
    • H12
    • H13

People in haplogroup H

(Note: The below list is an incredibly tiny and unrepresentative sampling, as nearly 1 of 2 Europeans share this haplogroup)

Marie Antoinette

Marie Antoinette, and her matrilineal ancestors back to Bertha von Putelendorf (died 1190), were of haplogroup H. (Jehaes et al, European Journal of Human Genetics, vol 6, pp. 383-395 (1998) and vol 9, pp. 185-190, (2001): the extended sequence is: HVR1 T16519C; HVR2 T152C, C194T, A263G and N315.1C.) If all pedigrees are assumed correct, the following other matrilineal relatives of Marie Antoinette were of haplogroup H: Maria Theresa of Austria, Marie-Louise of Austria (second wife of Napoleon Bonaparte), Peter II of Russia, Pedro II of Brazil, Philip III, Leopold II of Belgium, Frederick William II of Prussia, Ferdinand I of Bulgaria, Victor Emmanuel II of Italy, August III the Saxon, and Stanisław August Poniatowski. [2]

Empress Alexandra Fyodorovna

Among other famous members of group H are Empress Alexandra Fyodorovna, wife of the last Russian tsar Nicholas II, and all of her children. Their membership in haplogroup H was established when genetic testing was done on their remains to authenticate their identity.

As a consequence, all of relatives on the matrilineal line also have this haplogroup. These include Alexandra Fyodorovna's relatives along the matrilineal line all the way back to her ancestor Blanca Núñez de Lara (approx. 13171347), which include her grandmother Queen Victoria and her cousins the Duke of Edinburgh, Lord Mountbatten, and Wilhelm II of Germany and his wife Augusta Viktoria of Schleswig-Holstein. Other matrilineal descendants of Blanca Núñez de Lara include Marie de' Medici, Anne of Austria, Charles II, James II, and William III of England, Leopold I of Belgium, Wladislaus IV and John II of Poland, Michael I of Romania, George II, Alexander I, Paul and Constantine II of Greece, Christian VI of Denmark, Louis XIII, Louis XV and Louis XIV of France, Charles XI, and Christina of Sweden, William I of the Netherlands, Philip V, Philip IV, and Charles II of Spain and Queen Sophia of Spain. [3].


In a BBC Wales program about her father's Welsh ancestry, Susan Sarandon was revealed to be of haplogroup H. [4]


  1. ^ Atlas of the Human Journey - The Genographic Project
  2. ^ http://www.familytreedna.com/
  3. ^ [1]
  4. ^ "Coming Home: Susan Sarandon", BBC Wales, 29 November 2006. Retrieved on 2006-12-03. 

See also

External links

This page uses content from the English language Wikipedia. The original content was at Haplogroup H (mtDNA). The list of authors can be seen in the page history. As with this Familypedia wiki, the content of Wikipedia is available under the Creative Commons License.
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