Haplogroup H (mtDNA)
Encyclopedia
In human mitochondrial genetics
, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that likely originated in Southwest Asia
25,000-30,000 YBP.
. The Cambridge Reference Sequence
(CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H2a2a. 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. 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.
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, which was once assumed to invariably indicate haplogroup H, but it is now recognized that CRS can also appear in U or HV.
. About one half of Europeans
are of mtDNA haplogroup H. The haplogroup is also common in North Africa
and the Middle East
. 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.
expansion from SW Europe c. 13,000 years ago:
(27.8%) and being also very important among other Iberians, North Africa
ns and Sardinia
ns. It is above 10% in many other parts of Europe (France, British Isles, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent. Its subclade H1b is most common in Eastern Europe and NW Siberia. The highest frequency of H1 found so far in the world (61%) were observed in the Tuareg of the Fezzan
region in Libya
.
Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
The remaining subclades are much less frequent:
.
, Bryan Sykes
named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer
uses the very similar name Helina in his book The Origins of the British.
}
Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that likely originated in Southwest Asia
Southwest Asia
Western Asia, West Asia, Southwest Asia or Southwestern Asia are terms that describe the westernmost portion of Asia. The terms are partly coterminous with the Middle East, which describes a geographical position in relation to Western Europe rather than its location within Asia...
25,000-30,000 YBP.
Origin
Haplogroup H is a descendant of haplogroup HVHaplogroup HV (mtDNA)
In human mitochondrial genetics, Haplogroup HV is a human mitochondrial DNA haplogroup.-Origin:Haplogroup HV derives from the Haplogroup R0...
. The Cambridge Reference Sequence
Cambridge Reference Sequence
The Cambridge Reference Sequence for human mitochondrial DNA was first published in 1981 leading to the initiation of the human genome project.A group under Dr...
(CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H2a2a. 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. This would make its arrival roughly contemporary with Gravettian
Gravettian
thumb|right|Burins to the Gravettian culture.The Gravettian toolmaking culture was a specific archaeological industry of the European Upper Palaeolithic era prevalent before the last glacial epoch. It is named after the type site of La Gravette in the Dordogne region of France where its...
culture. They are also coincident in that the spread of subclades H1, H3 and the sister haplogroup V
Haplogroup V (mtDNA)
In human mitochondrial genetics, Haplogroup V is a human mitochondrial DNA haplogroup.-Origin:Haplogroup V is believed to have originated around the Western Mediterranean region, approximately 13,600 years before present- possibly on Iberia...
reflect a second intra-European expansion from the Franco-Cantabrian region after the last glacial maximum
Last Glacial Maximum
The Last Glacial Maximum refers to a period in the Earth's climate history when ice sheets were at their maximum extension, between 26,500 and 19,000–20,000 years ago, marking the peak of the last glacial period. During this time, vast ice sheets covered much of North America, northern Europe and...
, c. 13,000 years ago.
In July 2008 it was published that the ancient mtDNA from an individual called Paglicci 23
Paglicci 23
Paglicci 23 is the name for human remains found in Paglicci Cave in Apulia, Italy that have been dated to 28,000 years Before Present.In 2008, a scientific team led by David Caramelly tested Paglicci 23 and found that mtDNA sequences corresponding to positions...
whose remains were dated to 28,000 years ago and excavated from Paglicci Cave
Paglicci Cave
Paglicci cave is an archeological site situated near Rignano Garganico, Apulia, southern Italy. The cave, discovered in the 1950s, is the most important cave of Gargano.- Description :...
(Apulia
Apulia
Apulia is a region in Southern Italy bordering the Adriatic Sea in the east, the Ionian Sea to the southeast, and the Strait of Òtranto and Gulf of Taranto in the south. Its most southern portion, known as Salento peninsula, forms a high heel on the "boot" of Italy. The region comprises , and...
, Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
) had been found to be identical to the Cambridge Reference Sequence in HVR1, which was once assumed to invariably indicate haplogroup H, but it is now recognized that CRS can also appear in U or HV.
Distribution
Haplogroup H is the most common mtDNA haplogroup in EuropeEurope
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
. About one half of Europeans
European ethnic groups
The ethnic groups in Europe are the various ethnic groups that reside in the nations of Europe. European ethnology is the field of anthropology focusing on Europe....
are of mtDNA haplogroup H. The haplogroup is also common in North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
and the Middle East
Middle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
. 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.
Subclades
Among all these clades, the subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the MagdalenianMagdalenian
The Magdalenian , refers to one of the later cultures of the Upper Paleolithic in western Europe, dating from around 17,000 BP to 9,000 BP...
expansion from SW Europe c. 13,000 years ago:
H1
H1 encompasses an important fraction of Western European mtDNA, reaching its local peak among BasquesBasque people
The Basques as an ethnic group, primarily inhabit an area traditionally known as the Basque Country , a region that is located around the western end of the Pyrenees on the coast of the Bay of Biscay and straddles parts of north-central Spain and south-western France.The Basques are known in the...
(27.8%) and being also very important among other Iberians, North Africa
North Africa
North Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa. Geopolitically, the United Nations definition of Northern Africa includes eight countries or territories; Algeria, Egypt, Libya, Morocco, South Sudan, Sudan, Tunisia, and...
ns and Sardinia
Sardinia
Sardinia is the second-largest island in the Mediterranean Sea . It is an autonomous region of Italy, and the nearest land masses are the French island of Corsica, the Italian Peninsula, Sicily, Tunisia and the Spanish Balearic Islands.The name Sardinia is from the pre-Roman noun *sard[],...
ns. It is above 10% in many other parts of Europe (France, British Isles, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent. Its subclade H1b is most common in Eastern Europe and NW Siberia. The highest frequency of H1 found so far in the world (61%) were observed in the Tuareg of the Fezzan
Fezzan
Fezzan is a south western region of modern Libya. It is largely desert but broken by mountains, uplands, and dry river valleys in the north, where oases enable ancient towns and villages to survive deep in the otherwise inhospitable Sahara.-Name:...
region in Libya
Libya
Libya is an African country in the Maghreb region of North Africa bordered by the Mediterranean Sea to the north, Egypt to the east, Sudan to the southeast, Chad and Niger to the south, and Algeria and Tunisia to the west....
.
Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
| Region or Population | H1% | No. of subjects |
| Africa | ||
| Libyan Tuareg | 61 | 129 |
| Tuareg (West Sahel) | 23.3 | 90 |
| Berbers (Morocco) | 20.2 | 217 |
| Morocco | 12.2 | 180 |
| Berbers (Tunisia) | 13.4 | 276 |
| Tunisia | 10.6 | 269 |
| Algeria | 9.8 | 80 |
| Berbers (Egypt) | 1.1 | 184 |
| Western Sahara | 14.8 | 128 |
| Mauritania | 6.9 | 102 |
| Senegal | 0 | 100 |
| Fulani (Chad-Cameroon) | 0 | 186 |
| Cameroon | 0 | 142 |
| Chad | 0 | 77 |
| Buduma (Niger) | 0 | 30 |
| Nigeria | 0 | 69 |
| Ethiopia | 0 | 82 |
| Amhara (Ethiopia) | 0 | 90 |
| Oromo (Ethiopia) | 0 | 117 |
| Sierra Leone | 0 | 155 |
| Guineans (Guiné Bissau) | 0 | 372 |
| Mali | 0 | 83 |
| Kikuyu (Kenya) | 0 | 24 |
| Benin | 0 | 192 |
| Asia | ||
| Central Asia | 0.7 | 445 |
| Pakistan | 0 | 100 |
| Yakutia | 1.7 | 58 |
| Caucasus | ||
| Caucasus (north) | 8.8 | 68 |
| Caucasus (south) | 2.3 | 132 |
| Northwestern Caucasus | 4.7 | 234 |
| Armenians | 2.3 | 175 |
| Daghestan | 2.5 | 269 |
| Georgians | 1 | 193 |
| Karatchaians-Balkarians | 4.4 | 203 |
| Ossetians | 2.4 | 296 |
| Europe | ||
| Andalusia | 24.3 | 103 |
| Basques (Spain) | 27.8 | 108 |
| Catalonia | 13.9 | 101 |
| Galicia | 17.7 | 266 |
| Pasiegos (Cantabria) | 23.5 | 51 |
| Portugal | 25.5 | 499 |
| Spain (miscellaneous) | 18.9 | 132 |
| Italy (north) | 11.5 | 322 |
| Italy (center) | 6.3 | 208 |
| Italy (south) | 8.7 | 206 |
| Sardinia | 17.9 | 106 |
| Sicily | 10 | 90 |
| Finland | 18 | 78 |
| Volga-Ural Finnic speakers | 13.6 | 125 |
| Basques (France) | 17.5 | 40 |
| Béarnaise | 14.8 | 27 |
| France | 12.3 | 106 |
| Estonia | 16.7 | 114 |
| Saami | 0 | 57 |
| Lithuania | 1.7 | 180 |
| Hungary | 11.3 | 303 |
| Czech Republic | 10.8 | 102 |
| Ukraine | 9.9 | 191 |
| Poland | 9.3 | 86 |
| Russia | 13.5 | 312 |
| Austria | 10.6 | 2487 |
| Germany | 6 | 100 |
| Romania | 9.4 | 360 |
| Netherlands | 8.8 | 34 |
| Greece (Aegean islands) | 1.6 | 247 |
| Greece (mainland) | 6.3 | 79 |
| Macedonia | 7.1 | 252 |
| Albania | 2.9 | 105 |
| Balkans | 5.4 | 111 |
| Croatia | 8.3 | 84 |
| Slovaks | 7.6 | 119 |
| Slovak (East) | 16.8 | 137 |
| Slovak (West) | 14.2 | 70 |
| Middle East | ||
| Arabian Peninsula | 0 | 94 |
| Arabian Peninsula (incl. Yemen, Oman) | 0.8 | 493 |
| Turks | 3.3 | 360 |
| Druze | 3.4 | 58 |
| Dubai (United Arab Emirates) | 0.4 | 249 |
| Iraq | 1.9 | 206 |
| Jordanians | 1.7 | 173 |
| Lebanese | 4.2 | 167 |
| Syrians | 0 | 159 |
H3
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 frequency decreases towards the northeast of the continent, though. Studies have suggested haplogroup H3 is highly protective against AIDS progression.The remaining subclades are much less frequent:
H5
H5 may have evolved in West Asia, where it is most frequent and diverse in the Western Caucasus, but its subclade H5a has a stronger representation in Europe, though at low levels.H2, H6 and H8
These haplogroups are somewhat common in Eastern Europe and the Caucasus. They may be the most common H subclades among Central Asians and have also been found in West Asia. H2a5 has been found only in Basque Country, Spain.H4, H7 and H13
These haplogroups are present in both Europe and West Asia, H13 being also found in the Caucasus. They are quite rare. H4 is often found in IberiaIberian Peninsula
The Iberian Peninsula , sometimes called Iberia, is located in the extreme southwest of Europe and includes the modern-day sovereign states of Spain, Portugal and Andorra, as well as the British Overseas Territory of Gibraltar...
.
H20 and H21
These haplogroups are both found in the Caucasus region. H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).Tree
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 and subsequent published research.| mtDNA HG "H" p-tree |
|---|
|
Popular culture
In his popular book The Seven Daughters of EveThe Seven Daughters of Eve
The Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of human mitochondrial genetics to a general audience...
, Bryan Sykes
Bryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer
Stephen Oppenheimer
Stephen Oppenheimer is a British paediatrician, geneticist, and writer. He is a member of Green Templeton College, Oxford and an honorary fellow of Liverpool School of Tropical Medicine, and carries out and publishes research in the fields of genetics and human prehistory.-Career:Oppenheimer...
uses the very similar name Helina in his book The Origins of the British.
See also
- Genealogical DNA testGenealogical DNA testA genealogical DNA test examines the nucleotides at specific locations on a person's DNA for genetic genealogy purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders ; they are intended only to give genealogical...
- Genetic GenealogyGenetic genealogyGenetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Human mitochondrial geneticsHuman mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
- Population GeneticsPopulation geneticsPopulation genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
- SNPediaSNPediaSNPedia is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms . Each article on a SNP provides a short description, links to scientific articles and personal genomics web sites, as well as microarray information about that SNP...
External links
- General
- Ian Logan's Mitochondrial DNA Site
- Mannis van Oven's Phylotree
- Haplogroup H
- Rebekah A. Canada's mtDNA Haplogroup H Project at Family Tree DNAFamilyTreeDNAFamily Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...
- National Geographic's Spread of Haplogroup H, from National Geographic
- mtDNA Haplogroup H article at SNPediaSNPediaSNPedia is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms . Each article on a SNP provides a short description, links to scientific articles and personal genomics web sites, as well as microarray information about that SNP...
- Amelia's Helena
- Rebekah A. Canada's mtDNA Haplogroup H Project at Family Tree DNA
}
-
- Genebase's Tutorials on mtDNA Haplogroup H
- Genebase's Phylogenetic tree of mtDNA Haplogroup H
- Genebase's Geographical distribution of mtDNA Haplogroup H
http://www.journals.uchicago.edu/AJHG/journal/issues/v68n3/002146/002146.tb3.html Haplogroup and Subcluster Frequencies for European Populations- Danish Demes Regional DNA Project: mtDNA Haplogroup H
- Survey/study open to men who are in any branch of Haplogroup H
- Survey/study open to women who are in any branch of Haplogroup H
- Haplogroup H1
- Hope The H1 mtDNA Haplogroup Project