Rox2 SNPs: R1b-P312>DF27>Z2571>(FGC11395/FGC11397/FGC11388/FGC11369 and a few dozen phylogenetic equivalents). YFull name: R-Y8397
A yDNA cluster is essentially a group of present-day people sharing similar Y-STR results - this indicates possible descent from the same earlier common ancestor. SNP testing can confirm a STR cluster match to be a member of a SNP defined subclade (a related group). The Y chromosome is passed down virtually unchanged to all subsequent male descendants of the early common ancestor from father to son, although small random differences accumulate over time. This is due to mutations/mistakes on the Y chromosome that occasionally occur when it is replicated. Those mutations can be used to define and give age estimates for subclades. Rox2 matches are numerous and widespread today. Those who closely match the key off-modal Rox2 'signature' STR markers and take SNP tests consistently find they are also positive for the relevant Rox2 SNPs listed below.
Until 2014 (before NGS, or Next Generation Sequencing testing) 'Rox2' was a R1b-DF27** yDNA subclade, ie. negative for all then known SNPs below DF27. Those negative SNPs included Z196 (BritainsDNA's S355), Z195, Z215 (S357), Z225 (S225), Z229 (S359), L1245 (S1264), L1246 (S1285), (S400), L617, L194, L1231, DF79, DF81, DF83, DF84, L221, L86, L881. Scot, Angus Horatio Stewart, kit 142928, was the first match to test positive for DF27 back in May, 2012. Chip-based testing from FTDNA's Geno 2.0 and BritainsDNA's Chromo2 tests identified no relevant SNPs below DF27. Geno 2.0 does not read DF27 itself. Now, after more advanced NGS testing, we know Rox2 belongs to the early DF27 subclade, Z2571.
Extensive NGS testing is available from Full Genomes Corporation (FGC). Turner (FTDNA kit N3036, FGC kit number GYBGZ) received FGC results on 3rd April, 2014 (link). Many SNPs were seen to be shared with an anonymous kit in the 1000 Genomes project, HG00107, where they can be read and compared in that test. HG00107 has Orkney ancestry and matches the Rox2 off-modal STR pattern. Dickinson (FTDNA kit 134765, FGC kit WBAFF, Cumbria) received FGC results on 12th April, 2014 He and Turner share dozens of SNPs in a 'phylogenetically equivalent' block below DF27>Z2571. FTDNA's Big Y appears to test for under half of the 45-ish Rox2 relevant SNPs present in the two FGC tests. Coverage can vary from one test to another. The phylogenetically equivalent block can be imagined as a chain with dozens of links below Z2571. However, we don't know the (chronological) order of the SNP 'links' in that chain yet. I (N3461, North Yorkshire) got a FGC11397+ result (one of the phylogenetically equivalent SNPs below Z2571) from YSEQ in June, 2014, as have several others who have since tested single SNPs with either YSEQ or FTDNA. Northern Swedish BigY and 111 STR Rox2 match, Persson FTDNA kit 330933/YFull ID
YF02413was added to the YFull tree - to join HG00107 from Orkney under Z2571 in December, 2014. McCauley, FTDNA kit 342681/YFull ID YF03569 was added in May, 2015.
Through analysis of FGC and BigY tests, Jim identified three DF27 SNPs for single 'one off' tests to help confirm a match. These SNPs are offered for testing at Thomas and Astrid Krahn's company, YSEQ. The SNPs Z2571 and FGC11397 are also available for testing at FTDNA under 'Advanced Orders'.
FGC11395 (14861066, C>A), a Rox2 SNP, one of many equivalents that currently define the cluster. FGC11395 is also covered by FTDNA's BigY test. (Available to test at YSEQ.net). YFull name: Y8842.
FGC11397 (7332619, G>A), an equivalent SNP identified in Bob and Jim's FGC test and the 1000 Genomes test but not covered by the BigY test. (Available to test at YSEQ.net and FTDNA)
DIFFERENT SNP NAMES - SAME THING (ROX2)
YFull use Y8397 (FGC name FGC11374) as Rox2's 'lead' SNP in their tree in early 2015.
Alex Williamson has FGC11388 (YFull's Y8837) as the lead phylogenetically equivalent SNP in his Big Tree.
YSEQ lead with FGC11369 (YFull's Y8407) in their DF27 Panel test.
FTDNA DF27 PROJECT & Z2571
The FTDNA R1b-DF27 and Subclades Project has sections for Rox2 matches (on page 2 of results). Join that project if you are a Rox2 match.
Group Na. contains Rox2 STR matches who have SNP tested. 7 Rox2 STR matches who have not tested SNPs are in another group, Group Uf. Yet more Rox2 STR matches (including 328073, 228365, 228365, 187534, U2408, 244412, 440, 367358, 195076 ) are distributed around the DF27 Project under four different group sections. Clear high-resolution off-modal STR pattern matches are likely to be Z2571>FGC11397 etc. and could be grouped together. These results are just a small proportion of the total number of matches. Do get in touch here if you are unsure whether you match the Rox2 cluster.
Group N. has a Z2571 result, Mugford, kit 159450, England. He is DF84- and also FGC11397- (a Rox2 defining SNP). Kit 159450, does not look to have tested for CTS11567/Z2572 yet. This SNP might be worth investigating for kit 159450 because Carrier (kit 46496, in Group Nb.) who is Z2571>CTS11567+ is also negative for DF84. CTS11567
can be ordered as a single SNP at FTDNA.
Group Nb. contains CTS11567+ results. CTS11567 (also known as Z2572) is a SNP under Rox2's parallel 'brother' subclade. That subclade has Z2568 as a 'lead' SNP for
Z2570 * Z2569 CTS11567/Z2572 and DF84on the Carrier, kit 46496, France, and Norwood, kit 85133, England are positive for Z2571 and CTS11567/Z2572. As mentioned above, 46496 Carrier is negative for DF84.
Anonymous 1000 Genomes kits
NA19762 (Mexico) and HG01577 (Peru), under Z2568 on the YFull tree,
could have origins in Spain and
are said to share DF84, Z2568, Z2569, Z2570, and Z2572.
They appear to be the only DF84+ kits anywhere so far
. Also, at the FTDNA DF27 project, kit N119082, Haedo, with origins in Biscay in the north of Spain is CTS11567+, as is kit N128161, Gelpi, from Catalunya, Spain. Neither look to have STR results but their Geno 2.0 results are listed in the project's SNP section. They don't appear to have tested individually for DF84 (it is not in the Geno 2.0 test but can be ordered separately).
An anonymized spreadsheet containing 2000 Chromo2 results was released by BritainsDNA in 2014. Two Chromo2 kits, 1525 and 1903, are DF27+ and CTS11567+. Both are DF84-, as are all the other DF27/S250 Chromo2 kits. Kit 1525 is also positive for a SNP named S25893, kit 1903 is negative for S25893. Therefore, S25893 possibly indicates another subclade below CTS11567/Z2572. S25893's position is 23843638 (G>C).
I made a draft SNP tree in order to visualize Z2571 in relation to other subclades of DF27.
NGS testing is beginning to uncover many interesting new subclades below DF27 that were missed by previous chip-based tests.
Z2571 and FGC11397 are available for testing at FTDNA and YSEQ.net. If you test positive for Z2571, FGC11395, FGC11397 or FGC11369 etc. or receive BigY or FGC results let one of the project admins know. There is a BigY files section and a FGC files section at the DF27 Yahoo Group where, after joining, you can upload zipped raw data (the .zip file which includes both the .vcf file and the .bed file) from BigY or FGC tests to help with research. David Carlisle keeps a DF27 results spreadsheet there and Alex Williamson maintains a Big Tree here using files that are uploaded to the DF27 Yahoo Group or are sent to him. He uses FGC11388, yet another of the many phylogenetic equivalents, as a 'lead' SNP to name the subclade. YFull will analyze NGS test results for you and add them to their tree for $49. I report any news I learn here and am glad to hear from matches.
Alex Williamson's Big Tree shows new early DF27>ZZ12>ZZ19 subclades. Below ZZ19 there are now two 'brother' subclades, Z34609 and Z31644. Z34609 has Z2571 below it and our Rox2 group is below that.
YFull have given their YFS names to some of the other phylogenetically equivalent Rox2 SNPs already named by FGC. Y8397 was named FGC11374 by FGC (position 4062768 G>C) and is just one of the many phylogenetically equivalent SNPs under Z2571, like the above mentioned FGC11395 and FGC11397.
Interestingly, in that it concerns P312 (the early R1b subclade Rox2 is positive for), a Bell Beaker/Corded Ware burial (I0806 from Quedlinburg, Germany) was recently found to be P312+ and dated to 2296-2206 calBCE. Unfortunately they were unable to get a read for any downstream subclades, like DF27, U152, L21 etc. yet. Hopefully wider testing on his yDNA will be done. His grave contained mixed cultural features, including a Corded Ware shaft-hole axe and a perfect bell beaker. (
Going by higher resolution Rox2 STR and SNP matches the subclade has a Northern European distribution and is found in England, Scotland, Northern Ireland, the Republic of Ireland, Isle of Man, Orkney, Sweden and Northern France (Normandy). The locations of most earliest known ancestors' places of birth, when known, can be approximately split into thirds; Scotland (mainly central/south west/Borders), England (mainly north and east), and Ireland (mainly the north). However, recently matches are turning up in Southern England and Sweden. The proportion of tests of British Isles origin is high in public hobbyist yDNA databases and affects attempts to accurately map a subclade's geographical frequency and distribution using those databases. The majority of present-day yDNA testers are based in North America and many Rox2 matches are descendants of people who emigrated from the British Isles and Ireland to North America and now live there. Parts of rural eastern England, Wales and especially Continental Europe are less well covered.
A subclade founder seems to have been active towards the end of the Early Middle Ages. Of course, the Rox2 yDNA lineage existed before the eighth or ninth century AD but the similarity of many high resolution modern-day Rox2 haplotypes suggests someone in the line produced a large number of descendants then, a 'founder effect'. Different time to most recent common ancestor (TMRCA) estimates I have run using all currently available data agree that founder might have lived about 1200 years ago +/- a few centuries. See here for how this estimate was arrived at. Results from NGS testing at last identified the 'missing' SNP block tracing back to the DF27 founder, SNPs shared by all STR cluster matches so far. This lengthy list of shared equivalent SNPs might suggest the subclade experienced a prolonged 'genetic bottleneck', resulting in a large shared phylogenetically equivalent block of dozens of SNPs. Bottlenecks can happen with a reduction in the population and then a big founding event, or a move from one area to another followed by a founding event in the new location. There are well over one hundred different surnames at 67 STR marker resolution and above represented in the cluster. Generally surnames are thought to have only become fixed and hereditary by around the fifteenth century, long after the days of the Rox2 cluster founder, although some surnames might be fixed earlier and some more recently.
Subclade matching families usually have a name-type that is locally familiar in the region they lived (in rural England, Ireland, Scotland, Isle of Man or Sweden). Many surnames in Northern Ireland appear to have earlier Scottish roots. Surnames are not usually a good way of tracing back over 1000 years but can give background to general geographical locations and the more recent origins of earliest recorded ancestors (in parish records, mostly beginning in around the sixteenth century). Modern hobbyist DNA databases represent where some of a particular subclade's descendants were in relatively recent times. Modern subclade distribution can be quite different from their origins in the distant past. Archaeologists are now beginning to study ancient DNA and this might give a better idea of where certain subclades were thousands of years ago..
The wide distribution of different local surnames and the subclade's relatively young age might suggest Rox2 expanded rapidly and over a wide area. I am from an old rural North Riding of Yorkshire family that traces back to the beginning of parish records (sixteenth century) in Danby, North Yorkshire. A variation of our surname has a presence in the same general locality in earlier records possibly as far back as the thirteenth century. Similarly, the increasing number of Swedish Rox2 matches are natives of their country and also trace back to the beginning of parish records there, in the sixteenth century in and around Skellefteå and Northern Sweden. Before the early expansion/founding event the subclade may have been a small family/clan for a very long time. Either that or earlier related branches have since died out, or maybe they are yet to be found in another less well tested area. As mentioned, the hobbyist databases have an uneven geographical coverage of Europe. Perhaps we just haven't identified early branches, wherever they are, yet.
Many more potential matches exist at 37 marker resolution but their relationship to Rox2 is impossible to confirm at such low resolution with no SNP tests.
All results used in the TMRCA estimates are a minimum resolution of 111 STR markers. A match is based on a framework of eleven important R1b-P312 off-modal markers across 111 markers and not just on low genetic distance between the haplotypes. The key off-modal pattern is crucial in the identification of a Rox2 match because matches can occasionally happen between unrelated R1b haplotypes simply through coincidence. High resolution Rox2 off-modal STR matches have been consistently receiving the same SNP results as each other. It is not unusual for someone to differ on one of the five Rox2 ancestral 'signature' alleles in the 67 marker resolution test.
Unrelated subclades of R1b-P312 can appear similar at only 37 marker resolution. For example, the L21>DF13>L1335>L1065 'Scots Modal' cluster has similar key off-modal markers. Even with 67 markers, further DF27 SNP tests and/or an upgrade to the full 111 FTDNA markers are useful to confirm a Rox2 match beyond all doubt. In fact, an upgrade from 67 to 111 markers is recommended for Rox2 matches (see the Phylogenetic Tree).
The Rox2 modal/base haplotype has 6 out of 67 off-modal differences from the average for all R1b-P312. Rox2 has 16 differences over 111 markers from the R1b-P312 modal. It is a genetic distance (GD) of 9/93 from Ysearch ID: XQJ7H (R1b-P312 (S116) and all Subclades Modal).
As the bar chart here illustrates, plotting Rox2 matches' genetic distances from the modal/base haplotype produced a clear bell curve. This indicates the off-modal STR markers work well in identifying common descent from a founder, even without the SNP confirmation we have now. Rox2 is a monophyletic clade.
The cluster was identified around ten years ago by Jim Turner, who created the YSearch ID: 3QNM8. I first tested with the National Genographic project at around the same time, in 2005. Jim's term 'Rox2' has stuck after early discussions. It is now a very useful shorthand term to describe a subclade currently known by several different equivalent SNPs, some SNPs gaining multiple names.
An early key defining STR marker was found to be DYS717=20. It is included in the 111 marker upgrade. Some who matched Rox2 at 67 markers have ordered this individual marker from FTDNA under 'Advanced Orders'. DYS717 is strongly off-modal in Rox2 and is considered a stable, slow mutating marker. For reference, R1b modal is DYS717=19, L21+ 'Scots Modal' is 717=21. Results matching the above extra key markers (and the 67 marker ones) make identification of a Rox2 haplotype quite unambiguous.
Less uniform key off-modal markers in the 68-111 panels: DYS712 <=20 (21), DYS714 >=26 (25).
C. Corner. May, 2015.