H8: An Introduction[The mtDNA H Haplogroup Project] 


H8: An Introduction

FTDNA-hosted site is mtDNA Haplogroup H Project: H8.

H8's home-turf covers the region from eastern Turkey, around the Black and Caspian Seas, southern Russia, northern Iran/Iraq, reaching to the western parts of Afghanistan, and back to Lebanon and Israel.  Most of the research of our haplogroup has been in the Caucasus region.

Caucasus Region Caucasus Region Mountains of Georgia Mountains of Georgia

Loogvali: "The Near Eastern samples cluster together with Central Asian mtDNAs in the sub-Hgs H6b and H8, which are very rare in Europe. The finding is demonstrating a separate flow of maternal lineages south of the Caspian and the Black Sea in addition to well-known long lasting migrations of pastoral nomads alongside the steppe belt that connects the Danube Basin, over the Pontic-Caspian, with Central Asia, Altay and Manchuria. In contrast to that found in Europeans, sub-Hgs H6 and H8 among Central Asian/Altaian populations are characterized by distinctly divergent haplotypes (Figure 3A). This finding may reflect a long-time separation of Asian and European H6 and H8 mtDNA pools and/or an earlier expansion of H6 in the eastern part of its present range. Indeed, the coalescence age of H6 in Central Asians is very deep – 40400 years (SD 16400 years; Table S1). Because the Asian branches of sub-Hg H6 are highly divergent and seem to be among the oldest in Hg H (Table S1), they pose an interesting problem, deserving specific study with a much larger sample size at hand.

The commonly used HVS-I clock (Forster et al. 1996) places the initial expansion of Hg H in the Near East to about 23000 to 28000 years before the present (Richards et al. 2000)."

Map Central Asia

Central Asia

Roostalu: "Also, Nogaies differ from the rest primarily because of the high frequency of sub-hg H8. This latter finding is not unexpected bearing in mind their known descent from one of the constituents of the successors of the Golden Horde, a multiethnic political unit generated by the early 13th century westwards invasion of Mongols, carrying with them even a larger portion of Kipchak-Turkic speaking Central Asian tribes. indeed - the mtDNA pool of the Central iNner Asian populations has the highest share of sub-hg Hi detected thus for (table 2) and the found overlap with the Nogay mtDNA pool is therefore a document of an existing genetic link."

Bermisheva, et al. (2003): "On the other hand, the mtDNA lineages of H8 subgroup with substitutions at positions 16288 and 13100 in the Nogay is evidence for the influence of Near East populations on the formation of their gene pool."

Thus, H8 is a ancient maternal lineage whose hand has rocked the historical cradle of mankind from the infancy of civilization.

map Ancient Near East

Ancient Near East


Nomenclature

Mitochondria

Mitochondria are semi-independent entities found in human cells. They work to produce energy for the cell.

Mitochondrial DNA

Mitochondrial DNA is inherited only from our mothers. Every child inherits a colony of mitochondrial DNA from their mother in her egg cell. The male sperm cell has its own mtDNA. In humans, it does not survive to be passed on.

Mitochondrial DNA is made up of a control region and a coding region. The control region is further divided into two segments. Because the control region has a higher mutation rate than the coding region the segments are called the hypervariable regions. In most journal articles hypervariable region will be abbreviated to HVR. Thus they are HVR1 and HVR2.

RegionPositions
Hypervariable Region 2 00001-00574
Coding Region 00575-16000
Hypervariable Region 1 16001-16569


Mitochondrial DNA is abbreviated to mtDNA.

Mutations

A mutation is a change in the mtDNA sequence. Mutations are described in terms of the first human mtDNA to be fully sequenced. Because it was sequenced at Cambridge University it is called the Cambridge Reference Sequence, CRS.

This is an example of a change at the third place in the mtDNA. The change in the sample is shown in bold.

Location 001002003004005006007008009010
CRS G A T C A C A G G T
Sample G A C C A C A G G T


There are are multiple ways to write this. The first is to give the position and then the change: 003C. The second is to give the normal value for CRS, the position, and then the change: T003C. When talking about a single change the second method is clearer. When describing all of the changes found in a sample though it is quicker to use the first method. Some papers place both the normal CRS value and the mutation value after the position. They then indicate the change with an arrow: 003T→C.

Insertion

An insertion is when an additional segment is added to the DNA sequence. Insertions are described by writing the position, a period, the insertion point and the name of the new segment. Here is an example of the common insertion 315.1C.

Location310311312313314315 316317318319
CRS T C C C C C G C T T
Sample T C C C C C C G C T T


Insertions are highly variable and may occur in variable degrees in the same person.

Deletion

A deletion is when a single segment is removed from the DNA sequence. Deletions are described by writing the position and a minus sign, ”-.” Here is an example of the common pair of deletions at 522 and 523.

Location520521522523524525526527528529
CRS C A C A C C G C T G
Sample C A C C G C T G


Deletions are highly variable and may occur in variable degrees in the same person.

Transition

A transition is when one segment is changed to another of the same type.

A→G, G→A, T→C, and C→T are transitions. Here is an example of the transition A263G.

Location260261262263264265266267268269
CRS G C C A C T T T C C
Sample G C C G C T T T C C


Transitions do not happen that often but they are more frequent than transpositions.

Transposition

A transposition is when a segment changed to another of the opposite type.

A→T, T→A, C→G, and G→C are transpositions. Here is an example of the transpositon A227T.

Location220221222223224225226227228229
CRS T G C T T G T A G G
Sample T G C T T G T T G G


Transpositions are uncommon.

Haplotypes

A haplotype is a list of the mutations for an individual in relation the the CRS. The haplotype may be the HVR regions or the entire mtDNA sequence.

Haplogroups

A Haplogroup is a collection of related samples. mtDNA Haplogroups are usually defined by changes to the slower coding region. Haplogroup H is defined by two mutations, A2706A and C7028C. Because the CRS was an H these two defining mutations will not show up on a list of coding region mutations for Hs.

Here is a typical list of coding region mutations for an H8. Back Soon..

Current Trees

All Haplogroups interconnect forming a single tree of decent from our common formother.

L → L1 → L3 → N → R.

R is a Macro-Haplogroup whose daughter populations span much of the Northern Hemisphere.

H in the R Tree

Based on the tree from the National Genographic Project public partition database, Behar 2007, this is a basic outline of the R Macro-Haplogroup tree.

  • R {C12705C}
    • R*
    • R0* {G11719G} [aka pre-HV]
      • HV* {C14766T}
        • H {C7028C}
        • V {G4580A}
    • B {8280-}
    • R9 {3970}
    • TJ
      • T {G13368A}
      • J {A12612G}
    • U {A11467G}
      • K {A1811G,G9055A,A12308G,G12372A}

H8 in the H Tree

  • H {A2706A,C7028C}
    • H*
    • ..
    • H8 {T146C,G709A,A13101C,T16288C,T16362C}
    • ..

Major Papers

Finnila 2001
SNPsHaplogroupNotesnPercentage
A2706A,C7028C H Mutations in common with CRS 31 100%
various H* see bellow 13 42%
G3010A H1 Mutation away from CRS 14 45%
A1438G,A4769G H2 Mutation away from CRS 4 13%


Finnila collected 480 samples from Red Cross offices in several Finnish provinces. Of these 188 were Hs using the 7025AluI restriction site. 31 Hs were selected for an mtDNA full sequence. Any H8s found in Finnila would have been classified as H* or H(xH1,xH2).

Herrnstadt 2002
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS
H1
H2
H3


Any H8s found in Hernstadt would have been classified as H* or H(xH1,xH2,xH3).

Achilli 2004
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS


FTDNA mt-H
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS
A13101C H8


Loogvali 2004
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS
H
H
H


Brandstatter 2006
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS
T146C,G709A,A13101C,T16288C,T16362C H8


Roostalu 2007
SNPsHaplogroupNotes
A2706A,C7028C H Mutations in common with CRS
T146C,G709A,A13101C,T16288C,T16362C H8 13101C is a transversion

Membership

Project membership contains a mixed group of results. There are those who have taken only a basic test placing them in Haplogroup H with HVR1 results. There are some who have extended their testing to HVR2. Many have taken the mtDNA Full Genome Sequence test that includes all of the control and coding regions.

FamilyTreeDNA
NucleotidesmtDNAmtDNAPlusmtDNA Full Sequence
Hypervariable Region 2 00001-00574 X X
Coding Region 00575-16000 X
Hypervariable Region 1 16001-16569 X X X


All results considered in this section come from members who have taken ether the mtDNA Haplogroup H subclade test, mt-H, or the mtDNA Full Genome Sequence test, FGS, and are positive for the H8 mutations.

Completenessn
HVR1 8
HVR1&2 5
FGS 2


Studies

Our "Mother" Haplogroup H is well defined by a coding region marker at nucleotide position 7028C. Having an additional marker at 13101C in the Coding region indicated to the lab that you are in our H8 family. Many H8 HVR1's also have T16288C, but this site is less stable than 13101C and often occurs in other Haplogroups as well.

We are deeply indebted to the University of Tartu Faculty of Biology and Geography Institute of Molecular and Cell Biology Department of Evolutionary Biology in Estonia for identifying our subclade.

(Loogvali, et.al. 2004; Roostalu, 2004)

Loogvali's (2004) published research and Urmus Roostalu Master's Thesis (2004) are our primary source for understanding this rare H subclade. The chart (above) and diagram (below) illustrate H8's placement within the Helena family.

(Loogvali, et.al. 2004; Roostalu, 2004)

The presents of H8 in the Caucasus region located between the Black and Caspian Seas is well documented.

(Loogvali, et.al. 2004; Roostalu, 2004)

The largest percentage of H8s in this region is found among the Nogay.

( Roostalu, 2004)

H8 is rarely found in European samples.

(Loogvali, et.al. 2004; Roostalu, 2004)

 

Loogvali (2004) reported H8 +13100MspI with

129 and 288 in three Asian samples,

93, 288, 362 in one Asian sample, and

288, 362 in one Slovakian, one Turkish, three Near Eastern, and one Asian samples


Bibliography

Loogväli E.L., et al. 2004.Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Society for Molecular Biology and Evolution. ©all rights reserved. MBE Advance Access published July 14, 2004

Roostalu, U. 2004.Towards the understanding of the origin of human genetic variation in Eurasia: mtDNA haplogroup H in the Caucasus. M. Sc. Thesis, University of Tartu Faculty of Biology and Geography Institute of Moleculare and Cell Biology Department of Evolutionary Biology.

Bermisheva, M.A., I. A. Kutuev, T. Yu. Korshunova, N. A. Dubova, R Villems, and E.K. Khusnutdinova. 2003.Phylogeographic analysis of mitochondrial DNA in the Nogays: a strong mixture of maternal lineages from Eastern and Western Eurasia. Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054, Russia; Institute of Anthropology and Ethnology, Russian Academy of Sciences, Moscow, 119334, Russia; and Estonian Biological Center, Atrtu University, Tartu, 51050 Estonia.


Haplogroup H8 webpages were developed by Cheryl Simani


results/h8/helena.txt · Last modified: 05/03/2008 09:53 by goddess