Rox2 SNPs: R1b-P312>DF27>Z2571>(FGC11395 or FGC11397 and a few dozen equivalents) YFull name: R-Y8397
Until 2014 (before NGS, or Next Generation Sequencing testing) 'Rox2' was a R1b-DF27** yDNA 'STR cluster', or subclade, 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 Rox2 match to test positive for DF27 back in May, 2012. FTDNA's Geno 2.0 and BritainsDNA's Chromo2 tests found no new SNPs for Rox2 below DF27. Now we know Rox2 belongs to the early DF27 subclade, Z2571.
A yDNA cluster is essentially a group of people sharing a similar yDNA STR pattern, indicating possible descent from one distant common ancestor. SNP testing can confirm a match to be a member of a subclade. The Y chromosome is passed down virtually unchanged from father to son, although over time small random differences accumulate. This is due to mutations on the Y chromosome that occasionally occur when it is replicated. Those who match the key off-modal Rox2 signature markers and take SNP tests consistently find they are also positive for the relevant Rox2 SNPs and are therefore descended from the same common ancestor.
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). There are dozens of newly discovered SNPs in a phylogenetically equivalent block below DF27>ZZ12>ZZ19>Z2571 ranging from FGC11367 to FGC12971. These new SNPs are shared with an anonymous kit in the 1000 Genomes project, kit ID is HG00107, where confidence is high of a reliable result in the 1000 Genomes test. Both HG00107's parents and grandparents are from the same locality in Orkney. HG00107 is a match to the Rox2 STR modal/base haplotype. Dickinson (FTDNA kit 134765, FGC kit WBAFF, of sixteenth century Cumbrian origin) received FGC results on 12th April, 2014 and shares at least 45 Rox2 SNPs with Turner (GYBGZ), the remainder (more recent, 'private' SNPs) being relevant only to each family line respectively. FTDNA's Big Y appears to test for under half of the 45-ish Rox2 relevant SNPs present in the two FGC tests, although results and coverage can vary from one test to another. I (N3461, North Yorkshire origin) got a FGC11397+ result from YSEQ on 8th June, 2014, as did several other STR matches who took 'one-off' tests in that year. Northern Swedish BigY and STR Rox2 match, Persson FTDNA kit 330933, was added to the YFull tree under Z2571 in December, 2014. His YFull kit number is
Through analysis of FGC and BigY tests, Jim identified three DF27 SNPs for '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)
I have made a draft SNP tree in order to better visualize things in relation to other subclades of DF27. There is a Yahoo Group dedicated to discussing DF27 and subclades here.
NGS testing is beginning to uncover many interesting new subclades below DF27 that were missed by previous chip-based tests. Z2568* Z2570 * CTS11567/Z2572 and DF84 (7730269 C>G) are parallel with Rox2, below Z2571 on the YFull tree.
YFull look to call Rox2 'R-Y8397' after adding Swedish Rox2 (
YF02413 SWE) BigY results to the YFull tree below Z2571. 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 and is just another of the many phylogenetically equivalent SNPs under Z2571 - like the above mentioned FGC11395 and FGC11397.
Interestingly, in that it concerns P312, a Bell Beaker 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 further genome-wide 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.
There appears to be an interesting DF27+ result (R1b-P312>DF27>Z195>Z198>Z292*) far to the east (Mord1 (Mordvins) R1b3 DF27) in a member of the Mokshas people from Torbeyevsky, Mordovia, Russia. Reported here.
Estonian Biocentre has also presented several high quality R1b samples sequenced by CG (link: under '307 high coverage human Y chromosome sequences')
There are two sections of the FTDNA R1b-DF27 and Subclades Project for Rox2 matches (on page 2 of results). Consider joining that project if you are a Rox2 match. Do get in touch here if you are unsure whether you match the cluster. Group N. currently contains 14 results, 12 are Rox2 matches. Seven members of the FTDNA DF27 Project who match the key off-modal Rox2 markers but have not tested any SNPs are in Group Uf. Yet more Rox2 matches (including 328073, 228365 , 228365, 187534, U2408, 244412, 440, 242251, 342681) are distributed around the DF27 Project, under four different group sections. Those matches have the same chance of being Z2571>FGC11397 and could be grouped together.
Z2571 and FGC11397 are available for testing at FTDNA and YSEQ.net. If you test positive for Z2571, FGC11395 or FGC11397 or receive BigY or FGC results let one of the project admins know and they'll move you to Group N. There is a 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. I report any news here and am glad to hear from matches.
Group N. is where the FTDNA project admin currently puts all those with Z2571+ results.Two (kits 46496 and 159450) are not Rox2 matches. Carrier, kit 46496, from France, is negative for Rox2's defining SNP FGC11397 and is also negative for DF84. This could indicate 46496 belongs to an as yet unknown subclade of Z2571. 46496 is a high genetic distance (GD) from the Rox2 modal and only matches 2 of the 11 key off-modal STR markers out of 111. The other recent non-Rox2 STR match in group N. is Mugford, kit 159450. He is a high GD from 46496 Carrier (GD 23/67) although they share 3 off-modal markers in common 460=10 (11), 576=19 (18) and 444=13 (12). 159450 is also a high GD from the Rox2 modal, matching only one of the five off-modal STR markers in 67 markers. Kit 159450 is Z2571+ and DF84- but does not look to have tested FGC11397.
Going by higher resolution 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, more matches are now turning up in Southern England and Continental Europe. The proportion of tests of British Isles and Irish origin is high in public yDNA databases, Ireland and Scotland are very well represented. The majority of present-day yDNA testers are based in North America and almost all the above mentioned Rox2 matches are descendants of people who emigrated from the British Isles and Ireland to North America and now live there. Parts of rural England, Wales and especially Continental Europe are less well covered in the hobbyist databases.
Rox2's founder seems to have been active towards the end of the Early Middle Ages. Of course, the Rox2 yDNA lineage existed before the 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 agree the prolific founder might have lived about 1200 years ago. See here for how this estimate was arrived at. Results from NGS testing with FGC at last identified the 'missing' SNP block, tracing back to the DF27 founder. The subclade looks to have possibly experienced a lengthy genetic 'bottleneck', resulting in a large phylogenetically equivalent block of SNPs shared by all cluster matches. There then appears to have been a founding event in around the ninth century AD. Future extensive NGS testing might highlight any as yet undiscovered Z2571+ branches, to help layer earlier SNPs downstream of DF27>Z2571. 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 over eighty different surnames at 67+ STR marker resolution represented in the cluster. Generally, surnames are thought to have only become fixed and hereditary by around the fifteenth century (between c 1100-1400AD), long after the days of the Rox2 cluster founder, although some surnames might be occasionally fixed earlier than this.
Rox2/FGC11397/R-Y8397 is a relatively young subclade that looks to have quickly become widespread. 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 the general geographical locations and origins of earliest recorded ancestors.
This wide distribution of different surnames and the subclade's relatively young age suggests the subclade expanded rapidly from a small family yDNA lineage. Many families appear to have been 'settled' with roots in their widely different locations some time between the twelfth and the fifteenth centuries. 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 Northern Swedish matches are natives of their country and also trace back to the beginning of parish records there.
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 and named several years ago by Jim Turner, who created the YSearch ID: 3QNM8. I first tested with the National Genographic project in 2005. The term Rox2 has stuck after early discussions on DNA forums but has no particular meaning.
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. February, 2015.