In
human 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....
,
Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup.
Haplogroup H is a descendant of
haplogroup HVIn human mitochondrial genetics, Haplogroup HV is a human mitochondrial DNA haplogroup.-Origin:Haplogroup HV derives from the Haplogroup R0...
. The
Cambridge Reference SequenceThe 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 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.
In
human 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....
,
Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup.
Origin
Haplogroup H is a descendant of
haplogroup HVIn human mitochondrial genetics, Haplogroup HV is a human mitochondrial DNA haplogroup.-Origin:Haplogroup HV derives from the Haplogroup R0...
. The
Cambridge Reference SequenceThe 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 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. This would make its arrival roughly contemporary with
Gravettianthumb|right|Burins similar to these are characteristic diagnostic artifacts typical of the digs attributed 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...
culture. They are also coincident in that the spread of subclades H1, H3 and the sister
haplogroup VIn human mitochondrial genetics, Haplogroup V is a human mitochondrial DNA haplogroup.-Origin:Haplogroup V is believed to have originated approximately 12,000 years before present, possibly in Iberia...
reflect a second intra-European expansion from the Franco-Cantabrian region after the
last glacial maximumThe Last Glacial Maximum refers to the time of maximum extent of the ice sheets during the last glacial period, approximately 20,000 years ago. This extreme persisted for several thousand years. It is followed by the Late Glacial Maximum....
, c. 13,000 years ago.
In July 2008, it was published that the ancient mtDNA from an individual called
Paglicci 23Paglicci 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 the individual had the human mitochondrial haplogroup H; specifically, the...
whose remains were dated to 28,000 years ago and excavated from
Paglicci CavePaglicci cave is an archeological site situated in Italy. The cave, discovered in 50s, is the most important cave of Gargano, Apulia.- Description :...
(
ApuliaApulia is a region in southeastern 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 southern portion known as Salento, a peninsula, forms a high heel on the "boot" of Italy...
,
ItalyItaly , officially the Italian Republic , is a country located on the Italian Peninsula in Southern Europe and on the two largest islands in the Mediterranean Sea, Sicily and Sardinia. Italy shares its northern, Alpine boundary with France, Switzerland, Austria and Slovenia...
) 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.
Distribution
Haplogroup H is the most common mtDNA haplogroup in
EuropeEurope 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 water divide of the Ural Mountains, the Ural River, the Caspian Sea, the Caucasus Mountains , and the Black Sea to the southeast...
. About one half of
EuropeansThe European peoples are the various nations and ethnic groups of Europe. European ethnology is the field of anthropology focusing on Europe....
are of mtDNA haplogroup H. The haplogroup is also common in
North AfricaNorth Africa or Northern Africa is the northernmost region of the African continent, linked by the Sahara to Sub-Saharan Africa.Geopolitically, the UN definition of Northern Africa includes the following seven countries or territories; Algeria, Egypt, Libya, Morocco, Sudan, Tunisia,Mauritania, and...
and the
Middle EastThe Middle East is a region that spans southwestern Asia, southeastern Europe, and northeastern Africa. It has no clear boundaries, often used as a synonym to 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.
Among all these clades, the subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the
MagdalenianThe Magdalenian, also spelled Magdalénien, refers to one of the later cultures of the Upper Paleolithic in western Europe. It is named after the type site of La Madeleine, a rock shelter located in the Vézère valley, commune of Tursac, in the Dordogne department of France.Originally termed "L'âge...
expansion from SW Europe c. 13,000 years ago :
Subhaplogroup H1 encompasses an important fraction of Western European mtDNA, reaching its peak among
BasquesThe Basques are the native people of the Basque Country .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-eastern Spain...
(27.8%) and being also very important among other Iberians, North Africans and
SardiniaSardinia is the second-largest island in the Mediterranean Sea . The area of Sardinia is . The nearest land masses to the island are the French island of Corsica, the Italian Peninsula, Tunisia, and the Spanish Balearic Islands...
ns. 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. Its subclade
H1b is most common in Eastern Europe and NW Siberia.
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. Studies have suggested haplogroup H3 is highly protective against AIDS progression.
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 plainCentral Europe is the region lying between the variously defined areas of Eastern and Western Europe. The term and widespread interest in the region itself came back into fashion after the end of the Cold War, which, along with the Iron Curtain, had divided Europe politically into East and West,...
and in the Franco Cantabrian Region.
Subhaplogroups H2, H6 and H8 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.
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.
H4 is found mostly in
IberiaThe Iberian Peninsula, or Iberia, is located in the extreme southwest of Europe and includes modern-day Spain, Portugal, Andorra and Gibraltar and a very small area of France. It is the westernmost of the three major southern European peninsulas—the Iberian, Italian, and Balkan peninsulas...
.
Subhaplogroup H11 is commonly found in Central Europe.
Subhaplogroups H18 occurs on the Arabian Peninsula.
Subhaplogroups H20 and H21 are both found in the Caucasus region.
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 |
- HV
- H
- H1
- H1a
- H1b
- H1f
- H1g
- H1k
- H1q
- H1c
- H1e
- H1h
- H1i
- H1j
- H1m
- H1n
- H1o
- H1p
- H1r
- H1s
- H1t
- H1u
- H2
- H2a
- H2a1
- H2a2
- H2a3
- H2a4
- H2a5
- H2a5a
- H2b
- H3
- H3a
- H3b
- H3c
- H3d
- H3e
- H3f
- H3g
- H4
- H5'36
- H36
- H6
- H8
- H7
- H9
- H10
- H11
- H12
- H13
- H14
- H15
- H16
- H17
- H27
- H18
- H19
- H20
- H21
- H30
- H22
- H23
- H24
- H25
- H26
- H28
- H29
- H31
- H32
- H33
- H34
- H35
- H37
- H38
- H39
|
Popular Culture
In his popular book
The Seven Daughters of EveThe Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of Human mitochondrial genetics to a general audience...
,
Bryan SykesBryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
named the originator of this mtDNA haplogroup
Helena.
See also
- Genealogical DNA test
A 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 Genealogy
Genetic 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 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....
- Population Genetics
Population genetics is the study of the allele frequency distribution and change under the influence of the four evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes account of population subdivision and population structure in space. As such, it attempts...
- SNPedia
SNPedia 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
- Haplogroup H1
- Hope The H1 mtDNA Haplogroup Project