The most common misunderstanding - mtDNA

I just see so many misunderstandings on genetic genealogy and DNA test forums concerning mtDNA haplogroups, that I feel compelled to try to explain.

DNA testing businesses tend to dumb down a lot of information for their "audience".  I feel that this actually increases misunderstandings, and mtDNA haplogroups are a good example.  Rather than use the lengthy description mitochondrial DNA, or even it's shortened mtDNA, businesses describe it more frequently as Mother Line, or Maternal.  It misleads so many of their customers.  So let us put this straight:

  • A haplogroup is a  "combination of alleles at different chromosomes regions that are closely linked and that tend to be inherited together"  A series of mutations, that are inherited across generations.
  • mtDNA are a series of mutations within the DNA of mitochondria.  Mitochondria exist outside of a cell nucleus.  They have their own independent DNA, apart from the nuclear chromosomal DNA that dictates how we develop, what we are.  We all have mitchondria, in most of our cells.  They actually serve a function by processing energy.
  • As humans, we use nomenclature to group those mutations within a family tree of humanity.  My mtDNA mutations fall within Haplogroup H.
  • mtDNA cannot be passed on to future generations by males.  it is passed down to the children from the mother only.  I inherit H6a1a8 (my haplotype) from my mother, as do my brother and our sisters.  Only my sisters though will reproduce that mtDNA in their children.  My own children inherited the mtDNA of their mother, not mine.

So what does this mean in practice?

  • A Maternal / Motherline / mtDNA Haplogroup does NOT represent your biological ancestry.
  • A Maternal / Motherline / mtDNA Haplogroup does NOT even represent your mother's "half" of your biological ancestry.
  • For example, your father's mother most likely carried a different mtDNA.  Your mother's father most likely had a different mtDNA haplotype.  Only one of your sixteen great great grandparents passed down their mtDNA to you.
  • Instead, it acts pretty much as a single line genetic "marker" that can be traced only along one very narrow, single line of ancestry.  Look at the image at the top of your post.  Do you see?  Just one line of descent. It follows your mother's, mother's, mother line, and so on, all of the way back to a hypothetical "Mitochondrial Eve" 100,000 to 200,000 years ago.
  • It is not a tribe, ethnicity, or identity.  It is just the mtDNA genetic marker (Haplotype) that you inherited from your mother.
  • It is no good going onto mtDNA genetic genealogy forums and giving the names and origins of ANY direct ancestor, other than a woman (or her children) on that maternal line (mother's mother's, mother, and so on).
  • Forget surname studies.  In most western societies, and in many other's, the "family" name is inherited from the father - and follows a completely different course (Y-DNA).  Indeed, the surname of your true mtDNA ancestor changes most generations with marriage.  That is what makes this the most difficult line to trace with documentary methods.
  • Although difficult, it is the most true and secure.  Although secret or hidden adoptions can occur, the risk of non-parental events is much lower than for the strictly male line (Y-DNA).
  • Mitochondrial DNA mutates at a very slow rate.  This, along with the change in surnames most generations, can make it difficult to use successfully for genetic genealogy.  Many of the mutations are thousands of years old.  Alternatively, it makes it a valuable evidence for tracing ancient ancestry within a population.

That is all that I wanted to say.  it is a fascinating marker, but it is not representative of even 50% of your ancestry, it is not an identity, it is pretty irrelevant to surname (studies), it is inherited only down one narrow line - but all of the way back.

My earliest mtDNA ancestor with a surviving photograph.  My mother's mother's, mother's, mother (2xgreat grandmother), born Sarah Daynes in Norfolk, during 1845.  Her mtDNA would be H6a1a8.  Her mother was born Sarah Quantrill in Norfolk during 1827.  Her mother in turn was born Mary Page in Norfolk during 1791.  Her mother in turn was born Elizabeth Hardiment in Norfolk during 1751.  Her mother in turn (my 6xgreat grandmother) was Susannah Briting, who married John Hardyman in Norfolk during 1747.  If my documentary research along this line is correct, then Susannah inherited mtDNA haplotype H6a1a8 from her mother.

mt DNA Haplogroup H6a1 Resource Page

Above image by Marta D. Costa, Joana B. Pereira, Maria Pala, Verónica Fernandes, Anna Olivieri, Alessandro Achilli, Ugo A. Perego, Sergei Rychkov, Oksana Naumova, Jiři Hatina, Scott R. Woodward, Ken Khong Eng, Vincent Macaulay, Martin Carr, Pedro Soares, Luísa Pereira & Martin B. Richards [CC BY 3.0], via Wikimedia Commons

I'm gathering here, data on H6a1a, in preparation for my expected FT-DNA mtFull Sequence test results later this month.  23andMe has previously tested me to H6a1.  The James Lick and Wegene analysis services both predict me to be H6a1a8. What will FT-DNA say?

A collection of ancient references for mitochondrial DNA haplogroup H6 so far (2017-01-02) harvested from Ancestral Journeys

Palaeolithic Western Eurasian aDNA

No mtDNA H6 so far found.  Mainly U

Mesolithic Western Eurasian aDNA

No mtDNA H6 so far found.  Mainly U.  Other H found in Russia, Georgia, and Sweden.

Near Eastern Neolithic aDNA

No mtDNA H6 so far found.  Some H.

European Neolithic aDNA

No mtDNA H6 so far found.  Many other H.

Copper and Bronze Age aDNA

  • H6.  Israel Wadi el Makkukh. 4240-4065 BC
  • H6a1b.  Yamnaya.  Russia Kutuluk River, Samara. 3300-2700 BC
  • H6a2.  Potavka.  Russia Kutuluk River, Samara.2867-2484 BC
  • H6a1a.  Corded Ware.  Germany.  Esperstedt.  2465-2395 BC
  • H6a1b.  Okunevo.  Russia.  Verkhni Askiz.  2201-2036 BC
  • H6a1b3.  Unetice.  Germany.  Leau.  2200-1550 BC
  • H6a1a.  Srubnaya.  Russia.  Spiridonovka, Samara River.  1913-1629 BC

Iron Age aDNA

No mtDNA H6 yet found.  Many other H.

Ancient Roman aDNA

  • H6a1a.  Romano-British.  England.  York.  100-400 AD
  • H6a1b2. Romano-British.  England.  York. 100-400 AD.

Medieval and later European and Western Asian aDNA

  • H6a1b1.  Lombard.  Italy.  600-800 AD
  • H6.  Viking.  Oppland, Norway.
  • H6a1a.  Magyar.  Karos-Eperjesszög, Hungary. 800-850 AD
  • H6a1b. Magyar.  Karos-Eperjesszög, Hungary. 900-950 AD
  • H6a1a.  Medieval English.  East Smithfield, London, England.  1347–1351 AD.

Discussion

Above image by User:Dbachmann [GFDL or CC-BY-SA-3.0], via Wikimedia Commons

Although this is based on limited samples (albeit rapidly growing samples over the past year), there is of mt haplogroup H spread across Western Eurasia, certainly by the Mesolithic period.  Today, it is the most common haplogroup in Europe, found in 41% of Europeans.

H6 however, is less certain.  It has been suggested that it is more frequent in Eastern Europe, and the Caucasus.  The above ancient DNA references, collected so far, might suggest that H6a1 arrived into Europe with the Yamnaya expansion off of the Eurasian Steppes, carried by Steppe pastoralists migrating westwards, during the Copper Age / Early Bronze Age.  H6a1a itself, first appears in the Corded Ware Culture, which has recently been recognised as a fusion culture, that developed in Eastern / Central Europe, as a result of the arrival of the Steppe pastoralists.

The samples above suggest that H6a1a was present in Britain previous to the Anglo-Saxon period, and was also present in Medieval London.

H6a1a Today

Harvested from the FT-DNA MT-DNA H6 Haplogroup Project (2017-01-02).  These samples are most likely affected by a bias in sampling, to people of European heritage.

H6a1a - T11253C.  Britain, Ireland, Netherlands, Central Europe, Italy, Iberia, Balkans.  A cluster in SW Britain probably caused by sampling bias.

  • H6a1a* - G16526A.  Czech Rep.  Poland.
  • H6a1a* - T3548C.  Sweden, and Sicily.
  • H6a1a2a - C41T, G16482A.  Lithuania
  • H6a1a2a* - A297G, A14970G.  England
  • H6a1a3 - T5785C.  England (Norfolk), Germany, Poland, and Ukraine.
  • H6a1a3* - T7094C.  Finland.
  • H6a1a3a - A827G.  Scotland
  • H6a1a4 - T10237C.  Norway, Poland, England, and Ukraine.
  • H6a1a5 - C10936T.  Very Eastern Europe - Russia, Belarus, Ukraine, Moldovia, and Romania.
  • H6a1a5* - T5302C.  Russia.
  • H6a1a6 - A288G.  Poland.
  • H6a1a8a - T6185C, G16145A.  Wales.

Haplogroup.org.

The Haplogroup.org website proposes the following dates:

H6a1

Age: 8,669.7 ± 1,905.2; CI=95% (Behar et al., 2012b)

Origin: Undetermined
Mutations: A4727G

H6a1a

Age: 7,139.5 ± 1,993.2; CI=95% (Behar et al., 2012b)
Origin: Undetermined
Mutations: T11253C

H6a1a8

Age: 2,023.7 ± 1,898.9; CI=95% (Behar et al., 2012b)
Origin: Undetermined
Mutations: T16298C

Facebook Group



2017-01-04 UPDATE


I received my FT-DNA mtDNA Full Sequence test results.

Confirmed H6a1a8.


Matches mainly North America and Australasia without many Old World provenances.  However, I'm getting the distinct impression that it's been in the British Isles for some time.  I'm starting to research, but I'm seeing England, Ireland, Wales, maybe Finland.

Using the above Behar et al dating of H6a1a8, I age this haplotype to between 1970 BC and 1825 AD.  It's not old, although most likely late prehistoric.  It must have formed after Corded Ware, Unetice, etc.  Might date towards the end of the Bell Beaker Culture at a stretch, but most likely later - Iron Age perhaps?

My main interest is origins, with genealogy only as a bonus. I'm interested in knowing where H6a1a8 originates! H6a1 has been found in Yamna context. H6a1 and H6a1a have been found in Corded Ware context. No earlier H6a1 found in European atDNA. So it appears likely, that H6a1/a was an mt DNA type that followed the many Y-DNA types of the Copper Age Steppe migration across Europe - despite the usual dominance of Steppe Y haplogroups in Western Europe that indicate a male sex bias. 

Behar et al., 2012b, dates H6a1 to 8,669.7 ± 1,905.2; CI=95%, H6a1a to 7,139.5 ± 1,993.2; CI=95%, and H6a1a8 to 2,023.7 ± 1,898.9; CI=95% So I see H6a1a8 as pretty young, most likely Bronze Age or Iron Age. I'm curious as to when it distributed through Europe, and when it likely entered the British Isles. My mt-line has been in Norfolk, England for at least 290 years, when my earliest mt ancestor, Susannah Briting was born. She married my ancestor at Bunwell, Norfolk in 1747. I'd say that the probability is that it had been here in East Anglia long before that paper trail. So when did it likely move here?

23andMe had previously tested me to H6a1. Both the James Lick mthap analyser, and WeGene, looking at the 23andMe raw data, took that to H6a1a8. They were correct:

The FT-DNA mtFull Sequence confirmed my mt haplogroup to be H6a1a8.

My HRV1 mutations are: A16129G, T16187C, C16189T, T16223C, G16230A, T16278C, T16298C, C16311T, T16362C, A16482G, C16519T
My HRV2 mutations are: G73A, C146T, C152T, C195T, T239C, A247G, 522.1A, 522.2C, 309.1C, 309.2C, 315.1C
Extra mutations are: 309.1C309.2C315.1C522.1A522.2CC16519T

HRV1 matches are:

England 3
Hungary 1
Ireland 4
UK 1
USA 1

HRV1 + 2 matches are:

England 2
Hungary 1
Ireland 3

I have a "HRV1, HRV2, and Coding Region" exact match: Ireland 2

On Matches I get four GD0, but all appear USA/Aus, etc. I have emailed them. Three replied. No paper or geographical correlations. They can't follow their mt lines previous to emigration. They could come from anywhere in Europe, although English surnames keep dominating on their maternal sides.

On Matches map, a little more hope:



I've joined the H6 project, but being a development of the pretty massive mt hg H Project, it is drowned in submissions, with a long waiting queue of "ungrouped". The only other H6a1a8 on the results is USA. There is a H6a1a8a ungrouped as private located as "Finland", and another H6a1a8a located to Wales.

Other Links


H6a1a/H6a1b linked to reduced risk of Alzheimer's Disease

I am a Western Eurasian

The Caucasus.  By NASA/MODIS - Jacques Descloitres, MODIS Land Rapid Response Team http://visibleearth.nasa.gov/view_rec.php?id=1939) [Public domain], via Wikimedia Commons.

I grew up in the age where archaeology was the main driver behind our understanding of the distant past.  It still plays an important role in helping us to understand our human past before writing, and to sometimes correct our understanding of our past ever since the advent of writing.

During the past 24 months however, there has been a silent revolution.  It has been read by what is inside of us, the story of human DNA, and a foray into exploring and mapping ancient human DNA.  It is rewriting the prehistory of Western Eurasia.

First of all, we have to stop retaining ideas that somehow, Western Europeans are an isolate population.  We are the result of admixture after admixture, across Eurasia.  The DNA of humans from Ireland to Iran is strikingly similar.  We are a combination of different admixtures from different populations that lived 1) North of the Caucasus, 2) South of the Caucasus, and 3) Europe.  The Caucasus, as in the photo above, has been the great division between peoples, that allowed local Western Asian populations to divide, that then to admixed in both Western Asia, and in Europe.

This revelation is not yet widely known.  Even many professional archaeologists remain unaware, or skeptical about this new tool.  New migrations and admixture events are being discovered, into Europe, and across Eurasia that contradict previous consensus.

The Founder Populations

Europe

The latest evidence suggests that the earlier humans and their cultures of Ice Age Europe, did not survive all of the fluctuations in climate.  A new genome arrived and established 14,000 to 7,000 years ago, as represented by the Villabruna Cluster of human remains.  These last hunter-gatherers appear to have less Neanderthal DNA, and a closer relationship to Near East populations than did earlier Europeans.  They may have migrated into Europe when much of the Aegean Sea dried towards the end of the Ice Age.  These late hunter-gatherers may have contributed DNA to modern Western Eurasians both inside Europe, and in West Asia. When Early Neolithic Farmers arrived in NW Europe, it was probably the descendants of the Villabruna Type that they encountered.  They may have admixed with them.  A genetic legacy from these populations appears to be blue eyes.

South of the Caucasus

The Fertile Crescent spawned the Neolithic Revolution of Agriculture.  A distinctive genetic "ghost" population that has been named the Basal Eurasians significantly contributed to their DNA, along with other hunter-gatherer populations within the area.  Their descendants, the Early Neolithic Farmers, took agriculture, wheat, barley, sheep, goats, cattle, and pigs - along with pottery production, and polished flint axe heads across the Levant, to North Africa, Anatolia, and then on to Europe.  Along the way, they may have admixed with the hunter-gatherer populations that they displaced.  Today, their surviving DNA signal in Europe, is strongest in Sardinia, followed by the remainder of Southern Europe.

North of the Caucasus

Arable agriculture made only a temporary appearance on the Pontic and Caspian Steppes, but was soon replaced by pastoralism and a very different way of life.  The horse was well adapted to life on the Steppes, and humans there domesticated it.  Mounted on horses, they could control larger flocks and herds of livestock.  They also introduced wheeled carts, enabling them to easily mobilise to the best pastures depending on season and climate change.  They also encountered and mastered the new copper then bronze working technologies.  Steppe pastoralists could range long distances across the Steppe Corridor across Eurasia. They were also adapting by natural selection to a dairy based diet, with a rising percentage of lactose tolerance into adulthood.  A significant contribution to their DNA came from a group of Siberian hunter-gatherers known to population geneticists as the Ancient North Eurasian.  The copper age archaeological culture associated with this genetic group is the Yamna or Yamnaya.

Yamna Culture Tomb.  By XVodolazx (Own work) [CC BY-SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0)], via Wikimedia Commons

What happened in Europe?

Villabruna types entered Europe around 15,000 years ago, perhaps from the Near East.  They may have replaced earlier groups of European hunter-gatherers.

Early Neolithic Farmers from south of the Caucasus, then spread into Europe around 7,000 years ago, both across the Balkans into Central Europe, and also along the Mediterranean coast, bringing agriculture and pottery.  They may have at times admixed with hunter-gatherers within Europe.  However, their much better abilities at food production created a wave of displacement that must have been hard to resist.  They could rear so many more children.  By 5,000 years ago, their descendants dominated Europe.

Eurasian Steppe Pastoralists from north of the Caucasus, then spread into Eastern Europe around 4,100 years ago.  Why wasn't there a resistance from the Early Neolithic Farmers living there?  Latest research suggests that the Steppe Pastoralists had contracted a plague strain known as Yersinia pestis from Central Asia.  The current favoured hypothesis is that they may have accidentally spread this disease to less resistant Neolithic Farmer populations in Europe.  Some plots in Neolithic activity do indeed suggest a crisis at this time.  Therefore, the Steppe Warriors could easily dominate the depleted and weakened social structures of the Neolithic Europeans.  They brought with them, an Indo-European language, that appears to be the ancestor of most present day European languages.

In Europe, the fusion had a clear sex bias, with many Neolithic mitochondrial DNA haplogroups surviving, while Steppe Y haplogroups such as R1A still dominate today.  The fusion also seemed to give rise to a new archaeological culture known as the Corded Ware.

We know that the Yamnaya expansion didn't stop at all in Eastern Europe, it continued into Western Europe.  A fusion culture may be the Bell Beaker of the Early Bronze Age.  Again, a sex bias, with some mtDNA haplogroups surviving, but a strong dominance of Steppe Y haplogroups including the many clades of R1b.  Indeed, some of this domination is strongest on the Western edge of Eurasia, in places such as Iberia, Ireland, and Scotland, where later admixture events failed to reach - but the Steppe Pastoralists had dominated, particularly in male haplogroups.

How does this relate to this East Anglian?

According to the latest K7 Basal-rich test by David Wesolowski of the Eurogenes Blog, my ancestral breakdown of my autosomal DNA, around 14,000 years ago would be:

  • 57% Villabruna-type (Europe and the Near East)
  • 29% Basal-rich (Middle East)
  • 14% Ancient North Eurasian (Siberia)

My Y haplogroup (L-SK1414) ancestor would have most likely been an ibex hunter in the area of present-day Iran and Iraq, possibly in the valleys of Mesopotamia, and or the Zagros Mountains of Iran.

My mtDNA ancestor would have been Eurasian - by 4,400 years ago, a woman of the Yamnaya, on the Pontic and Caspian Steppes, in a pastoralist tribe.

So, you get where this is taking me.  Step back into prehistory, and what DNA is revealing to me is that my ancestors were NOT all in Britain, or even all in Europe.  They were scattered across Siberia, the Steppes, the Caucasus, the Zagros, the Middle East, the Levant, and go further back, to Africa.

Alternatively, the equally recent Global 10 test, run by my friend Helgenes50 of the Anthrogenica board, resulted in:

  • 55% Baalberge_MN (European Middle Neolithic)
  • 38% Yamna_Samara (Eurasian Steppe Pastoralist)
  • 7% Loschbour:Loschbour (Late Eurasian hunter-gatherer)

These two tests may not actually conflict, as they are essentially tests referring to the Eurasian populations of two different time periods, with different admixtures.  The K7 Basal-rich test refers to my proposed ancestral populations towards the end of the last Ice Age.  The Global 10 test refers to more recent admixture leading up to the Bronze Age. 

I am a Western Eurasian.