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The Somerton Man’s mtDNA haplogroup ..

From Byron Deveson.

It is interesting that Clive sees a resemblance to SM in the Scots-Irish actor Stephen Boyd (AKA Millar) because SM’s mtDNA haplogroup is present at significant levels in Ireland. See:

https://www.familytreedna.com/groups/mt-dna-h4/about/background

It appears that Scots-Irish were mercenaries in Finland in the 16th Century and that could explain the high incidence of the H4 haplogroup in Finland (and Iceland where it constitutes 9%?).

I am reminded that there was a large “tartan” scarf (shawl?) in SM’s suitcase. From memory the tartan looked like a military or an Irish tartan. Or even a Norwegian tartan. But the pattern is oblong and all genuine tartans appear to be square as a consequence of the weaving method.

Tweeds are often rectangular and SM’s “tartan” scarf appears to be a tweed, not a tartan. Unfortunately tweed patterns and colour were chosen for camouflage (hunting) and this is consistent with the appearance of the scarf/shawl in the black and white press photo.

Tweeds are often dun coloured to fit in with the Scottish landscape. A dark blue and green tweed such as the one from SM’s suitcase would be an exception from my vague memory of such things and this might be an overlooked clue. Dark green and blue suggests deep forest to me and, relying on dim memory, these are not abundant in Scotland or Ireland. I note that some estates had their own tweed pattern and some estates had private forests. The possible US belongings (comb, lighter and coat and chewing gum(?) from memory) bolster the case for SM being American and Scots-Irish DNA is concordant with US East Coast heritage.

I started building a family tree commencing with Robin Thomson’s likely forbears Tarleton Pleasants (1778-1836) and Tabitha nee Crew (1788-1819) but I found so much contradictory information that I gave up.

I started by assembling all the available material, regardless of the contradictions, with the intention of straightening it all out. But, I soon found that the descendants of this couple could not agree as to whom begat whom and when, so I didn’t stand a chance.

I pushed on in the hope that one of the descendant lines would show some connection to Australia, and some do. The Merryman family comes to mind. But, nothing crystallised and I decided that there was more than a thousand hours of research required and only a relatively small chance of success. So, there the Pleasants family tree rests.

Byron Deveson.

Scots-Irish actor Stephen Boyd (AKA Millar)

The Somerton Man

I just noticed that Stephen Boyd has a SM type ear and this is fairly rare. DA’s anatomist friend at the Uni says 1% prevalence, but I have yet to see one after years of furtively gazing at ears. It is a dangerous game – try it (furtively gazing at ears I mean). Byron D

12 Comments Post a comment
  1. Byron Deveson #

    I have just noticed that actor Stephen Boyd 1930-1975 has the same rare ear structure as Somerton Man. Both have an unusually large cymba to cavuum ratio and this is fairly unusual with an incidence of only 1 to 2% in the general population according to University of Adelaide professor of anatomy Maciej Henneberg. Judging from my research (covertly checking out the cymba to cavuum ratio of folk standing in queues mostly) I haven’t seen a single example in upwards of 1,000 subjects.

    December 6, 2020
  2. Byron Deveson #

    Prof. Abbott’s team have recovered about 2% of SM’s autosomal DNA from the hair samples. There is a brief summary of the findings thus far at:
    https://projectswiki.eleceng.adelaide.edu.au/projects/index.php/Projects:2019s1-141_CSI_Adelaide:_Who_killed_the_Somerton_Man%3F#Chromosome

    Two notable findings are: “Ethnicity check via GEDmatch shows that he was North Atlantic for a proportion of more than a quarter of the chart. The second largest section shows that he was Baltic, which does not stray too much from North Atlantic region.
    There is only slight change on the ethnicity regions during the degradation process. It is shown in Figure 5 that the ethnicity does not intersect with one another for two sample DNA files, thus concludes that the degradation of DNA does not affect the proportion of ethnicity. This then concludes that the Somerton Man’s origin is around North Atlantic countries and Baltic region based on Figure 4. The countries that are associated with these regions are shown in Figure 6.”
    I note that several people have said they could see a bit of Balt in SM.

    And: “One of the diseases found in his DNA is Skin fragility woolly hair syndrome which indicates that Somerton Man might have woolly hair abnormality. “

    I noted that an Australian girl Shilah Yin who has an extremely rare type of type of woolly hair abnormality (uncombable hair syndrome) also has the SM teeth (hypodontia)! This is a genetic gold strike. See:
    https://www.today.com/health/uncombable-hair-syndrome-condition-gives-girl-unruly-mane-t114586

    I further note that Ectodermal dysplasia (ED) is associated with Woolly hair syndrome and several people previously suggested that SM’s teeth abnormality and high calves were down to Ectodermal Dysplasia. See:
    https://www.malacards.org/card/familial_woolly_hair_syndrome

    IMHO this is much too much to be mere coincidence. Bottom line? The identification of SM using the 2% recovered autosomal DNA is now a strong possibility.

    December 7, 2020
    • пожалуйста #

      Interesting! I can’t seem to find Fig. 6 which is supposed to show the lost of countries included in the definition ‘North Atlantic and Baltic’. Is it an extensive list?

      December 8, 2020
      • пожалуйста #

        “List” of countries, even. Here in Yekaterinburg I clearly still struggle with a non-Cyrillic keyboard.

        December 8, 2020
        • Я могу посочувствовать

          December 8, 2020
  3. Byron Deveson #

    пожалуйста, I could not find table 6 either.

    The “North Atlantic” and “Baltic” population categories are used in the Eurogenes 13 and it is likely that this model was accessed from GedMatch. The Eurogenes 13 program is one of several that are freely available.

    There are various algorithms used to calculate ancestral mixtures. There are dozens of these algorithms, each one using slightly different data, calculation approaches, different definitions of populations, different length of time back to the ancient population etc. So there are some differences to be expected depending on exactly which model is used.

    “North Atlantic” is essentially British plus Irish. “Baltic”? I don’t know but I have tested four DNA data sets from people for whom I have detailed genealogical data. All four are of 100% English, Scottish and Irish extraction back at least ten generations, with Scottish and Scottish Borders and Irish extraction being predominant. As you can see the top two ancestral populations of all four people are “North Atlantic” and “Baltic”, just like SM. Bottom line for me is that SM was of British descent.

    My mother, who has a 99.6% British Isles and Ireland paper trail genealogy out to 12-30 generations has an archetype Celtic mitochondrial DNA haplogroup. My mother matches to one of the Hinxton-4 skeleton which is Celtic and dated 1 AD) with a mtDNA of H1ag. MtDNA haplogroup H1ag1 has a prevalence of 7% in Ireland from memory.

    My mother’s population admixture according to the Eurogenes algorithm is as follows.

    Population

    North_Atlantic
    50.95 Pct
    Baltic
    21.91 Pct
    West_Med
    13.35 Pct
    West_Asian
    5.88 Pct
    East_Med
    2.65 Pct
    Red_Sea
    1.2 Pct
    South_Asian
    2.26 Pct
    East_Asian
    0.24 Pct
    Siberian

    Amerindian
    1.02 Pct
    Oceanian
    0.05 Pct
    Northeast_African

    Sub-Saharan
    0.48 Pct

    I have the following admixture according to Eurogenes:

    Population

    North_Atlantic
    53.06 Pct
    Baltic
    22.87 Pct
    West_Med
    12.59 Pct
    West_Asian
    2.42 Pct
    East_Med
    5.06 Pct
    Red_Sea
    1.1 Pct
    South_Asian
    1.45 Pct
    East_Asian

    Siberian

    Amerindian
    1.1 Pct
    Oceanian

    Northeast_African
    0.27 Pct
    Sub-Saharan
    0.06 Pct

    My partner Fran

    Population

    North_Atlantic
    51.35 Pct
    Baltic
    24.19 Pct
    West_Med
    9.49 Pct
    West_Asian
    7.81 Pct
    East_Med
    5.97 Pct
    Red_Sea-

    South_Asian

    East_Asian

    Siberian

    Amerindian
    0.59 Pct
    Oceanian
    0.59 Pct
    Northeast_African

    Sub-Saharan

    My cousin Winsome

    Population

    North_Atlantic
    53.59 Pct
    Baltic
    21.23 Pct
    West_Med
    14.84 Pct
    West_Asian

    East_Med

    Red_Sea

    South_Asian
    2.09 Pct
    East_Asian

    Siberian

    Amerindian

    Oceanian
    0.06 Pct
    Northeast_African

    Sub-Saharan
    0.31 Pc

    I should explain that “Baltic” refers to place of origin in the distant past. I have not been able to establish what the ages of the various populations used by Eurogenes 13 are, but I expect that they are at least 2,000 years BP.

    The basic GedMatch tools are free and you can load your DNA data into GedMatch for free. DNA data is cheap today – you can have your DNA data for as little as seventy eight bucks. This test covers 600,000 plus things called SNPs which, in this case, are the DNA codes at 600,000 of the most useful locations for genealogical and health research purposes. Everyone has about 3 billion locations but most of these are stable and essentially have stayed the same since Adam and Eve. The 600,000 locations are chosen because they often vary from person to person and slowly change due to mutation so they can be used to match people. It is a genetic fingerprint of sorts. Everyone has a large number (tens of thousands) of mutations (also called “variants” because they vary between people).

    Incidentally, DA’s group have said they have recovered 2% of the 600,000 SNPs. But, as I explained above, these 600,000 SNP are just those used in the current genealogical DNA test kits. If DA’s group has recovered 2% of those SNPs then they have probably recovered 2% of SMs total genome, which is 2% of 3 billion of the base pairs. There is a lot of additional information that could be extracted from these in addition to the 2% of 600,000. Even 2% of 600,000 is an awful lot of information. From memory I have something like 75,000 mutations in my 600,000. That is a normal figure I should hasten to say. Mutations are now known to be a dime a dozen. Thirty of forty years ago we would often read of something or other being shown to cause “mutations” (smoking, drink, food, “chemicals” – and WTF isn’t “”chemical”’? ) and it was automatically assumed by the experts, and our betters, that this must be a bad thing. Since it was discovered that normal people have 75,000 or so mutations the “experts”, have stopped talking about mutations and moved on to other, what I call “Standard”, Stories.

    December 8, 2020
    • пожалуйста #

      Wow! Thanks Byron… fantastic detail and insight here. Do you (and others) feel this begins to firm up the notion that our man is indeed likely a Keane (Pete’s conclusion) and that he is either:

      a) an American, probably from the East Coast (based on his personal effects); OR

      b) an English- or Irishman whose history has brought him into close contact with American culture and goods, e.g. through travel, proximity at home or through service with Americans?

      December 9, 2020
  4. Clive #

    Wow! indeed, that’s great work from Byron. If we accept the name Keane for the SM, are we sure that his initial was a T? The initial on his tie, could it be interpreted as something else rather than the letter T?

    December 9, 2020
    • How I wish the police photographed all three of the Keane labels

      December 9, 2020
    • пожалуйста #

      Clive, possibly a J, I’ve often thought. Just on the basis that the horizontal doesn’t extend beyond the vertical stem.

      Any other candidates?

      December 10, 2020
  5. Byron Deveson #

    пожалуйста,
    I was previously luke warm on the name Kean(e) but I now feel that there is a fair chance that SM is Mr Kean(e). Yes, an American or a Brit.

    December 9, 2020
  6. Byron Deveson #

    DA’s team have said that SM carried a mutation associated with “skin fragility woolly hair syndrome”.
    This would appear to be what is known as “Skin fragility woolly hair palmoplantar keratoderma (palmoplantar hyperkeratosis) syndrome”. For more information see:

    https://www.orpha.net/consor/cgi-bin/Disease_Genes.php?lng=EN&data_id=15895&MISSING%20CONTENT=desmoplakin&search=Disease_Genes_Simple&title=desmoplakin

    Disease definition: “Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Prevalence: Less than one in a million.”.
    If you G—gle ORPHA:293165 you will see more information concerning this condition. The condition involves a gene called DSP – desmoplakin. Synonyms DPI, DPII, KPPS2, PPKS2
    This gene is located on chromosome 6.
    https://www.ahajournals.org/doi/full/10.1161/CIRCGEN.118.002241
    Recently a mutation (variant) that is associated with this condition has been identified at location 7096 in this gene and I suspect this is the mutation that DA’s team has found because it is the only mutation known thus far to be associated with the condition.
    Hmm. Skin fragility. I am reminded of the abrasions around SM’s knuckles.
    I note that the condition is rare, less than one in a million, and this means it might be possible, in theory, to work backwards from known carriers of this mutation to establish if they have a common forbear, and then working forward from this “founder” to identify all the possible carriers of this mutation that fit SM’s age and sex. This might be an option for somebody with access to a very large DNA database, and Ancestry, with more than fifteen million (probably twenty million now) individual records, could do this. Of course there are all sorts of ifs, buts and maybes involved, but the initial identification of people carrying the mutation in question should be easy. Tracing the identified carriers forbears back a couple of hundred years is pretty standard stuff. What about it Ancestry?
    I am encouraged by the association of this mutation with ectodermal dysplasia symptoms. Ectodermal dysplasia conditions are fairly rare and were previously suggested by several persons as being involved in SM’s various physical features; high raise calves, hypodontia and wedge shaped feet. I think we have a winner here. Ectodermal dysplasias (there are a lot of slightly different manifestations) are fairly rare, with an incidence of one in 20,000 in Australia.
    I should mention that in most cases of pathogenic mutations other genes are usually involved so having the genotype doesn’t mean that you automatically have the phenotype. And many generic conditions are very variable, with a constellation of possible symptoms, and, in some cases symptoms that are polar opposites. I know of cases where some family members have bullet proof skin, and the other family members have fragile skin, and all with the same genetic condition. Bottom line: SM’s relations, and it is likely that he has dozens of them walking around somewhere, might exhibit some, or different, or none of these features. But it is possible that some will have similar features because the mutation in question only has to be heterozygous (one copy rather than two) for the condition to be present. With the mutation on chromosome 6 it means that on average half of any children will carry the mutation, and so forth.
    So, if SM’s relatives were similar to most other people in the 19th and 20th Centuries they would have left more than two children. So it is likely there are people walking around somewhere today who carry SM’s mutated desmoplakin gene.

    December 18, 2020

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