Monday, April 6, 2015

My Genome (An Executive Summary)

My 23 and Me personal genome testing preliminary results are in (much more promptly than advertised, for what it is worth):


Y-DNA haplogroup: E1b1b1a2* (E1b1b1 is also known as E-M35, E1b1b1a is E-M78 and my own haplogroup is E-V36/V13).

mtDNA haplogroup: H1b

Broad ancestry composition (out of 31 regional groupings including speculative estimates):
European 99.9%
*Northern European 94.8%
**Finnish 38.1%
**Scandinavian 16.4% (Sweden-Norway-Denmark)
**British and Irish 6.3% (UK and Ireland)
**French and German 1.1% (Germany, Netherlands, France, Switzerland, Austria, Belgium)
**Broadly Northern European 32.9%
*Broadly Southern European 2.6%
*Broadly European 2.6%
East Asian - Yakut 0.1%
Unassigned < 0.1%

Neanderthal Ancestry 2.9% (79th percentile; 82nd percentile for Europeans).

Feel-Good Gene: AC (mixed ancestral "C" and feel-good "A" type)


My Y-DNA haplogroup, which is most common in Greece and Albania, is surprising as it is rare in the places that are home to my ancestors (Protestant Germany near the former West German-East German border), but not shocking.  It could have been a part of either a first wave early European farmer migration, or a Bronze Age migration, to the north and west from the Balkans.  The source of this Y-DNA was probably not recent as my genome lacks any East European and only a very modest amount of Southern European ancestry, and no Near Eastern ancestry.

My combined Y-DNA and mtDNA haplogroups, while not terribly remarkable for someone of my ancestry, would also be quite normal for a man of Berber origin, until one gets to the very last couple of mutations in the Y-DNA haplogroup that are European specific.

I was surprised to be more Finnish than Scandinavian.  My Finnish ancestors are Swedish language speaking Finns and I'd expected the Scandinavian component to be half or more of the total.  But, apparently, Swede-Finns absorbed more native Finnish ancestry than I'd expected, although the possibility that Swedish ancestry which due to founder's effects is most common in Finland counts as Finnish could also be a factor.

The trace Yakut ancestry isn't too surprising given my substantial Finnish heritage, with a presumed cryptic circumpolar migration producing an ancestor hundreds of years ago.  This trace, which appears only on one of my chromosomes in a single bunch, also highlights the fact that you can have ancestry which is not reflected in either of your uniparental haplogroups.

The higher than average Neanderthal ancestry was also expected as Finns have above average hunter-gatherer ancestry in Europe and European hunter-gathers had higher levels of Neanderthal ancestry than post-Last Glacial Maximum migrants from the Near East.

There is less specifically British and Irish ancestry than I'd expected and less German ancestry than I'd expected, and I hadn't expected any Southern European ancestry.  But, as most of my father's ancestry is ascribed to "Broadly Northern European", it is fair to say that he's pretty much a Northern European mutt.

The "Feel-Good Gene" is one where I'd thought it was likely that I'd have a mixed or completely derived type, as this gene is particularly common in Finns and is associated with phenotypes that fit my personality.

Some spot checking has revealed that there are a not insignificant number of SNPs for which no result was obtained, although they are clearly a small minority and I don't expect 100% reads on everything in a mailed in spit test analyzed for an average price of less than $99 per genome.

Ethics and Motivation

I'm aware that by posting this information, I am also posting without their consent, by inference, information about the uniparental genetics of my father, one my two children, my brother, my uncle, my male paternal first cousin, two maternal uncles, a maternal aunt, four maternal first cousins, and two children of one of my maternal first cousins, for a total of at least fourteen people, in addition to large numbers of deceased people (e.g. my grandparents and mother) and many more distant relatives.

On the other hand, the information is intrinsically a part of me and hence morally belongs to me to use as I see fit, anyone using it has to tease out the family relationships to do so, and there is not strong stereotypes attached to Y-DNA and mtDNA haplogroups at this point, although there is arguably mild anti-Neanderthal stigma that this post my help to dissolve (or enhance, depending upon what you think about me).  And, I think it is worthwhile for someone who blogs a great deal about genetics to disclose his own, after benefiting so much from the disclosures of others.

Moreover, the kind of information that I have disclosed already really provides very little information that couldn't be inferred from publicly available information on my family tree, ancestry, appearance, and demeanor.  I would think twice before posting my whole genome, or portions of it with greater medical significance.

I also think it is important for the public to put a face on genetic information, and make my own contribution here.

Also, knowledge of your own genes inevitably colors your interest in our research, something which I should disclose to my readers.

For example, Maju just blogged on mtDNA H1 in Cantabria from 19,000 years ago, something that it had previously not been clear existed.  This area in Northern Spain was a refuge in which modern humans survived the deepest part of the last Ice Age, with glaciers that reached their greatest extent around 20,000 years ago.  So, this find disproves the hypothesis that everyone in Europe who survived the last Ice Age was mtDNA U with all other haplogroups arriving more recently from the Near East, which had been the prevailing paradigm based upon ancient DNA findings to date, before this discovery.

Knowing that I bear this mtDNA haplogroup makes that discovery one of more personal significance than it otherwise would have been, although it was surely noteworthy in any case.


Krefter said...

I'm surprised you haven't tested yet.

"For example, Maju just blogged on mtDNA H1 in Cantabria from 19,000 years ago, something that it had previously not been clear existed."

It's H not H1. An H1 SNP wasn't tested. H certainly existed in Pre-Neolithic Europe. Ancient mtDNA although suggests most came in the Neolithic or later.

"The higher than average Neanderthal ancestry was also expected as Finns have above average hunter-gatherer ancestry in Europe and European hunter-gathers had higher levels of Neanderthal ancestry than post-Last Glacial Maximum migrants from the Near East."

I've never heard this before.

Krefter said...

Have you uploaded to GEDmatch?

andrew said...

Maju surmises in the body of his post, I think correctly, that H1 is most likely.

Otzi the Ice Man, who was probably a first generation mix of farmer and hunter-gatherer, had about a 4% Neanderthal percentage, IIRC.

I haven't gotten around to GEDmatch or the rest. No time to work it out yet.

Krefter said...

I totally agree, if you research genetics for fun you should test yourself. It's fun to see where you fit in all of it, and compare yourself to the loads of ancient DNA.

I had been learning about genetics for a year before learning I belonged to U5b2a2b1. I learned the same day Laz 2013 came out. There happens to be an over 10,000YBP U5b2a2 from the same area of Germany mine comes from, which makes it much more interesting to me.

bellbeakerblogger said...

Libyan! I knew it!

Seriously, that's great. Thanks for sharing.

terryt said...

Thanks for sharing. Fascinating.

Anonymous said...

Thanks for sharing.

I think your Finnish ancestry percentage is normal for partial Finland-Swedish ancestry. Finland-Swedes historically were not an insular and uniform group. For hundreds of years Swedish was the administrative language of Finland as well as trade language in towns, and changing language from Finnish to Swedish and assimilating into the Swedish-speaking population was essential for social mobility, while for Swedish speakers there was no advantage in switching to Finnish. The end result would be a Swedish speaking population with very significant Finnish ancestry, as well as some Scottish, German and so on from foreign traders who settled in towns, and a Finnish speaking population with very little Swedish ancestry, especially further away from coastal regions.

This has happened elsewhere in larger scale and is, for example, the reason why many Turks have ancestry from Armenia and the Balkans but Armenians and Balkanites have very little Turkish ancestry despite having been under Turkish rule for a long time - those who mixed with the ruling Turks started speaking Turkish and assimilated.

andrew said...

Very insightful. The mechanism you suggest makes a great deal of sense and has broad applicability to other historical assimilation events.