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Haplogroup H
Time of origin unknown
Place of origin Western Eurasia
Ancestor HV
Defining mutations 263

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. In Human genetics, Haplogroup HV is a Human Mitochondrial DNA (mtDNA Haplogroup. Mitochondrial genetics is the study of the Genetics of the DNA contained in Mitochondria. In Human genetics, a human mitochondrial DNA haplogroup is a Haplogroup defined by differences in human mitochondrial DNA.

The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H. The Cambridge Reference Sequence ( CRS) for Human Mitochondrial DNA was first published in 1981 leading to the initiation of the Human genome project

About one half of Europeans are of mt-DNA haplogroup H. The haplogroup is also common in North Africa and the Middle East. North Africa or Northern Africa is the Northernmost Region of the African Continent, separated by the Sahara from Sub-Saharan The Middle East is a Subcontinent with no clear boundaries often used as a synonym to Near East, in opposition to Far East. [1] 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, and <10% in the Persian Gulf, Northern India and Central Asia. [2]

According to FamilyTreeDNA the 4336 tRNA nucleotide position variant in haplogroup H has been shown to be associated with late-onset Alzheimer's disease. FamilyTreeDNA is a commercial Genetic genealogy company based in Houston Texas. Alzheimer's disease ( AD) also called Alzheimer disease or simply Alzheimer's, is the most common form of Dementia. [3]

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. The Seven Daughters of Eve (2001 ISBN 0-393-02018-5 is a book by Bryan Sykes that presents the theory of Human mitochondrial genetics to a general audience Bryan Sykes is Professor of Human Genetics at the University of Oxford and a Fellow of Wolfson College.

Contents

Origins

Several independent studies conclude that haplogroup H probably evolved in West Asia c. Southwest Asia or Southwestern Asia (largely overlapping with the Middle East) is the southwestern portion of Asia. 30,000 years ago having arrived to Europe c. 20-25,000 years ago, spreading rapidly to the southwest of the continent. [4] [5] This would make its arrival roughly contemporary with Gravettian culture. The Gravettian was an industry of the European Upper Palaeolithic.

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. In Human genetics, Haplogroup V is a Human Mitochondrial DNA (mtDNA Haplogroup. The Franco-Cantabrian region (also Franco-Cantabric region) is a term applied in Archaeology and History to refer to an area that stretches from The Last Glacial Maximum (LGM refers to the time of maximum extent of the Ice sheets during the last Glaciation (the Würm or Wisconsin glaciation) approximately 13,000 years ago. [2][4]

Relationship to other haplogroups

Haplogroup H is a descendant of haplogroup HV. In Human genetics, Haplogroup HV is a Human Mitochondrial DNA (mtDNA Haplogroup.

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 R S W X Y
C Z B F pre-HV pre-JT P UK
HV JT U K
H V J T

Subclades

Haplogroup H is divided into various subclades. In Human genetics, Haplogroup L1 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L3 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup N is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup R is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup pre-HV (also known as Haplogroup R0) is a Human Mitochondrial DNA (mtDNA Haplogroup. In Human genetics, Haplogroup HV is a Human Mitochondrial DNA (mtDNA Haplogroup. In Human genetics, a human mitochondrial DNA haplogroup is a Haplogroup defined by differences in human mitochondrial DNA. Mitochondrial Eve ( mt-mrca) is the name given by researchers to the woman who is defined as the Matrilineal most recent common ancestor (MRCA for all currently In Human genetics, Haplogroup L0 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L1 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L2 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L3 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L4 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L5 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup L7 is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup M is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup N is a Human mitochondrial DNA (mtDNA haplogroup. In Human mitochondrial genetics, Haplogroup CZ is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup D is a Human mitochondrial DNA (mtDNA haplogroup. In human mitochondrial genetics Haplogroup E is a human mitochondrial DNA (mtDNA haplogroup which can be used to define genetic populations In Human mitochondrial genetics, Haplogroup G is a human mitochondrial DNA (mtDNA haplogroup. In Human mitochondrial genetics, Haplogroup Q is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup A is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup I is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup R is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup S is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup W is a Human mitochondrial DNA (mtDNA haplogroup. In Human mitochondrial genetics, Haplogroup X is a Human mitochondrial DNA (mtDNA haplogroup which can be used to define genetic Populations. In Human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA (mtDNA haplogroup. In Human mitochondrial genetics, Haplogroup C is a Human mitochondrial DNA (mtDNA haplogroup. In Human mitochondrial genetics, Haplogroup Z is a Human mitochondrial DNA (mtDNA haplogroup. In mitochondrial genetics, Haplogroup B is a Human mitochondrial DNA (mtDNA haplogroup. In mitochondrial genetics, Haplogroup F is a Human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup pre-HV (also known as Haplogroup R0) is a Human Mitochondrial DNA (mtDNA Haplogroup. In Human genetics, Haplogroup pre-JT is a Human Mitochondrial DNA (mtDNA Haplogroup. In Human mitochondrial genetics, Haplogroup P is a human mitochondrial DNA (mtDNA haplogroup. In Human genetics, Haplogroup UK is a Human mitochondrial DNA (mtDNA Haplogroup. In Human genetics, Haplogroup HV is a Human Mitochondrial DNA (mtDNA Haplogroup. Haplogroup JT is a Human Mitochondrial DNA (mtDNA Haplogroup. In Human genetics, Haplogroup U is a human mitochondrial DNA (mtDNA haplogroup, a group of people who descend from a woman in the Haplogroup R (mtDNA Haplogroup K is a mitochondrial lineage that represents a sizeable fraction of the Western Eurasian genetic pool In Human genetics, Haplogroup V is a Human Mitochondrial DNA (mtDNA Haplogroup. Haplogroup J is a Human Mitochondrial DNA (mtDNA Haplogroup. Haplogroup J derives from the haplogroup JT, which also gave rise to Haplogroup T is a Human Mitochondrial DNA (mtDNA Haplogroup. Haplogroup T derives from the haplogroup JT, which also gave rise to Haplogroup In Genetics, subclade is a term used to describe a subgroup of a Subgenus or Haplogroup.

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. The Magdalenian, also spelled Magdalénien refers to one of the later cultures of the Upper Palaeolithic in Western Europe. 13,000 years ago [4]:

Subhaplogroup H1 encompasses an important fraction of Western European mtDNA, reaching its peak among Basques (27. The Basques (Euskaldunak are a people who inhabit a region spanning over parts of north-central Spain and southwestern France. 8%) and being also very important among other Iberians, North Africans and Sardinians. Sardinia (sɑrˈdɪnɪə Sardegna Sardigna or Sardinnya is the second-largest island in the Mediterranean Sea (after Sicily) 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. [2] Its subclade H1b is most common in Eastern Europe and NW Siberia. [6]

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. [2]

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. Central Europe is the Region lying between the variously and vaguely defined areas of Eastern and [4]

Subhaplogroups H2, H6 and H8 are somewhat common in Eastern Europe and the Caucasus. [4] They may be the most common H subclades among Central Asians and have also been found in West Asia. [6]

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. [4]

References

  1. ^ Atlas of the Human Journey - The Genographic Project
  2. ^ 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.
  3. ^ Dan Mishmara et al., "Natural selection shaped regional mtDNA variation in humans", PNAS, January 7, 2003, vol. 100, no. 1, 171–176.
  4. ^ 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.
  5. ^ M. Richards et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool. AJHG, 2000.
  6. ^ 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.

See also

External links

Mitochondrial genetics is the study of the Genetics of the DNA contained in Mitochondria. A genealogical DNA test examines the Nucleotides at specific locations on a person's DNA for Genetic genealogy purposes Overview The NGS's historical mission is "to increase and diffuse geographic knowledge while promoting the conservation of the world's cultural historical and natural
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