T2b2b - Mutation in coding region

[Poster]

A while back, I completed the mtDNA full sequence through Family Tree DNA. I was assigned the mitochondrial subclade T2b2b. In the HVR1/HVR2/Coding Region, I received no matches with a genetic distance of 0, while I was given 44 matches with a genetic distance of 1. I have reached out to my GD1 matches to see if there was a pattern concerning the mutations present in my matches.

My extra mutations are : 315.1C, 522.1A, 522.2C, T3368C
My missing mutation is : C152T

It turns out that all my GD1 matches, so far, do not have the mutation T3368C. So, it appears that my matches are perfect matches with eachother, while I have an aberrant mutation. It is important to note that my mutation is located in the coding region, so this difference will only be noted in a full sequence test. The coding region also tends to be slower mutating than HVR1 or HVR2, with its mutations often being those that define mtDNA branches. Yet as I say that, I think T2b2b is characterized by a back mutation in HVR1 (C16304T!).

I am thinking that an ancient maternal ancestor of mine developed a mutation that separates my lineage from other T2b2b people. I guess that the next step shall be to contact the GD2 and GD3 matches to investigate further.

My maternal is from northeast Scotland, more specifically the Aberdeen area.

[cathmary]

Yes, you're right about the back mutation (C16304T!) being the defining mutation of T2b2b. I am T2b2b myself, and have done the full sequence testing.

My extra mutations are: 315.1C 522.1A 522.2C C10961T C16296T
My missing mutation is: A11914G

So, you could very well be correct regarding the extra mutations.

[Bollox79]

A while back, I completed the mtDNA full sequence through Family Tree DNA. I was assigned the mitochondrial subclade T2b2b. In the HVR1/HVR2/Coding Region, I received no matches with a genetic distance of 0, while I was given 44 matches with a genetic distance of 1. I have reached out to my GD1 matches to see if there was a pattern concerning the mutations present in my matches.

My extra mutations are : 315.1C, 522.1A, 522.2C, T3368C
My missing mutation is : C152T

It turns out that all my GD1 matches, so far, do not have the mutation T3368C. So, it appears that my matches are perfect matches with eachother, while I have an aberrant mutation. It is important to note that my mutation is located in the coding region, so this difference will only be noted in a full sequence test. The coding region also tends to be slower mutating than HVR1 or HVR2, with its mutations often being those that define mtDNA branches. Yet as I say that, I think T2b2b is characterized by a back mutation in HVR1 (C16304T!).

I am thinking that an ancient maternal ancestor of mine developed a mutation that separates my lineage from other T2b2b people. I guess that the next step shall be to contact the GD2 and GD3 matches to investigate further.

My maternal is from northeast Scotland, more specifically the Aberdeen area.

Nice to see some T2b2b! I need to get the full sequence done etc. What do you think generally about T2b2b? I find it's quite common in Gaelic populations and that would be in line with my maternal line from SW Ireland (my 2nd Great Grandmother was Irish though she was born over here in the States, but her father was a Colway (or Cowley?) and mother was a Dana). I see yours is from NE Scotland. I also see it seems to have a connection to Scandinavia and even Hungary (though I suspect this is through Scandinavia). Also something interesting I found was that King Bela III of Hungary had a Y-DNA and autosomal kinsman buried near him in the family tomb and that guy's mtDNA was T2b2b1 (so a sub group of our T2b2b).

As far as ancient DNA having T2b2b - also there was one male who has T2b2b mtDNA in the pagan settlers of Iceland paper here: http://science.sciencemag.org/content/sci/suppl/2018/05/30/360.6392.1028.DC1/aar2625-Ebenesersdottir-SM.pdf

That sample is labeled SSG-A3: Sílastaðir [SSG]: A cluster of four pre-Christian graves was discovered in 1947. Based on morphological analysis, three of the skeletons were deemed male, and one female. We selected all four remains for sequencing: SSG-A1, SSG-A2, SSG-A3 and SSG-A4.

Some info on that burial site: 98. Sílastaðir
Grave 1: A human skeleton orientated W-E
Position: supine, leaning to the right, slightly flexed
Grave
-
goods: sword (Petersen type M), axe (possibly Petersen type F), another axe
(probably I), spear
-
head (Petersen type K 21), knife, whetstone,
2
buckles, piece of
flint
, shield
-
boss (Rygh 562), bark and a quantity of other wood. One of the axes may
have come from grave 2.
Grave 2: A human skeleton orientated SSW
-
NNE
Position: lying on its right side, left arm flexed
Grave
-
goods: spear
-
head (Petersen type K), knife, wh
etstone, jasper, strike
-
a
-
light,
2
silver coin fragments, silver
-
thread, iron fragment, shell fragment, bead, penannular
brooch (similar to P 212) and some wood.
Grave 3: A human skeleton orientated SW
-
NE
Grave measurement: 180 x 90
-
100cm, 50cm deep, cove
red with stones.
Grave
-
goods:
6
beads, iron fragments, knife,
3
fragments of quartz.
Grave 4: Remains of a human skeleton in the southern end orientated SW
-
NE
Position: lying on its right side, probably flexed
Grave measurement/type: 370 x 100cm, covere
d by a hummock with a scatter of
stones.
Grave
-
goods: sword (Petersen type Q), axe (Petersen type G or K), shield
-
boss (Rygh
563), spearhead (Petersen type K), knife,
2
lead weights, iron fragment, jasper, semi
-
transparent pebble. A horse skeleton was fou
nd in the northern end with a bridle
-
bit,
five nails and a buckle.
This cemetery was excavated by Kristján Eldjárn in 1947 and located about 300m
north of the farm. (Sorry about the way it copy and pastes - but it's a pain in the butt to fix it).

Grave 3 would be the T2b2b guy... interesting to note the Iceland paper... there seems to be some confusion about grave 4 and if it's female (buried with weapons etc)... I think paper deemed that skeleton is female. SSG-A2 and A4 are Gaelic and A3 was a bit less - though more Gaelic than Norse, but about as Gaelic as Icelandic - so a man of mixed Scandinavian and Gaelic ancestry.

Thoughts on T2b2b in general?

Cheers!
Charlie

Edit: For my maternal line - I can't really get past my 3rd GGM Bridget Dana born circa 1842 in Ireland and married to a Martin Colwrey (Colway)... any idea what Gaelic surname might have sounded like Colwrey? I find that often happened with Gaelic surnames - like my mother's father's family the O'Dwyers - I have seen it spelled Dewire or Dyer in census records...?

[Poster]

Thanks for the replies. It has been a long while since I’ve checked the site. I have confirmed that my genetic distance of 1 from my matches is on account of a mutation in the coding region that is unique to me.

At the level of full sequence testing, most of my matches are Irish, with no particular area of Ireland standing out. The next countries of prominence would be Norway and Scotland. This seems to confirm the idea of the haplogroup being Gaelic and Norse. Given that the Irish are the largest group on FTDNA, they are probably a little over represented with the other groups being underrepresented.

The interesting thing about my Scottish matches are that they are all from either the Western Isles (Lewis) or Northern Isles (Orkney, Shetland). Seems to lead to more speculation of a Norse-Gaelic origin. I have one GD1 Match from the continent who has a MDKA from Belgium who seems to have a Walloonian origin.

Regards,

Poster

[Bollox79]

Thanks for the replies. It has been a long while since I’ve checked the site. I have confirmed that my genetic distance of 1 from my matches is on account of a mutation in the coding region that is unique to me.

At the level of full sequence testing, most of my matches are Irish, with no particular area of Ireland standing out. The next countries of prominence would be Norway and Scotland. This seems to confirm the idea of the haplogroup being Gaelic and Norse. Given that the Irish are the largest group on FTDNA, they are probably a little over represented with the other groups being underrepresented.

The interesting thing about my Scottish matches are that they are all from either the Western Isles (Lewis) or Northern Isles (Orkney, Shetland). Seems to lead to more speculation of a Norse-Gaelic origin. I have one GD1 Match from the continent who has a MDKA from Belgium who seems to have a Walloonian origin.

Regards,

Poster

Yes from what I could see from the T2b (and T2b2b kits) from that FTDNA group - it's a very Gaelic and Norse group - though as you say and I agree the Isles is a bit over-represented right now. It is also supported by that T2b2b sample from the medieval Iceland pagan settler who was a Norse-Gael. It also lines up with my maternal line from Ireland - possibly from Tipperary - only families I could find with the married surname of my 2nd GGM Colway or Cowlrey who came over to the States with her husband Martin - was Tipperary, but then we know how reliable census records are when people were spelling Irish surnames the way the sounded - like O'Duibhir/O'Dwyer spelled D-wy-er or D-y-er etc... I've found different spellings for the same relatives via my Mom's maiden surname O'Dwyer in the census record - or the fact probably on my Father's side the German Webers became Weavers etc.

[Bollox79]

Some additionally thoughts on Sílastaðir and the T2b2b guy - in another paper I saw that grave 3 was probably female - but that seems to have been mixed up with grave 4 in the paper that did the DNA testing - as there were three men and one female... but the archaeological paper was probably female - so does that mean SSG-A3 (Mr. T2b2b) was actually grave 4?!? Grave descriptions from this paper: Ritual Animal Killing and Burial Customs in Viking Age Iceland... by Rúnar Leifsson

Edit: Grave 3 (labeled as SSG-A3 and male in DNA paper, but female in another paper): Burial III was of a person, most likely a woman, between 36 – 45 years of age at the time of
death (Hildur Gestsdóttir 1998:13). The burial was 1.8 x 1 m in diameter, 0.5 m deep and
covered with a low stone cairn. Artefacts discovered include six beads, a knife, three pieces of
quartz, the remains of a casket with a lock, and an unrecognisable iron object. No horse
remains were discovered in burial III (Kristján Eldjárn 1954:60-61).

Grave 4 (explained as male with horse - I think this male grave was mixed up with grave 3 who is female as the DNA paper has grave 4 as female... would make more sense if grave 4 was male with horse etc and probably our T2b2b and Y-DNA I1 guy): Burial IV was of a man and horse, sharing the same grave cut (figures 4.24 and 4.25). The
grave was 3.7 x 1 m in diameter and was oriented SW-NE. The human remains were of a
male who had been between 36 – 45 years of age at the time of death (Hildur Gestsdóttir
1998:13). The man rested in the SW-part of the burial, his head in the SW-end. The horse was
opposite, with its head in the NE-end and its rump turned towards the man’s feet. The man
had been buried well armed. A sword, a spear, an axe and a shield boss were found associated
with the human remains. Artefacts found by the man’s waist include a knife and a few things
that probably came from a purse fastened to his belt; two lead weights, an iron object with a
piece of jasper or flint attached at the end, a red piece of jasper and a translucent stone. The
horse was buried harnessed and saddled. It was uncovered with a bridle bit still in its mouth
and six nails and a buckle by its withers and upper vertebrae. The horse’s hindlegs were
stretched ‘forwards’ in an anterior direction and up against its torso (Kristján Eldjárn 1954:61-
66). A total of 97 specimens of horse bone from burial IV are stored at the National Museum,
representing a single individual. Of those, 59 specimens are on display at the Museum’s permanent exhibition. The horse was not quite fully grown at the time of death. The fusion
lines are still very visible on the animal’s vertebrae and at least one eroded vertebra seems to
be unfused. This is in unison with the wear of the incisors (Silver 1969, Habermehl 1975).
The occlusal surfaces are oval in shape and the infundibulums are still open. The animal was
thus probably between four and five years of age at the time of death and most likely male,
based on the morphology of the pelvis (Getty 1975; Cross 2009).

I think grave 3 and grave 4 got mixed up...

[Poster]

Hello everyone,

YFull has changed my subclade from T2b2b to T2b2b2a1. It has an interesting mix on YFull with a Scot (me), an Italian, two Swedes and two without an identified country. Here is a screenshot of the phylogenetic tree.
31222

The TMCRA is given as 325 years (450 to 225). I’m not sure how accurate that is. The mutation that I mentioned in the initial post (T3368C) was used in the age estimation as a novel SNP.