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 later 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 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. Both HG00107's parents and grandparents are from the same locality in Orkney and HG00107 is a match to the Rox2 STR modal. Dickinson (FTDNA kit 134765, FGC kit WBAFF, of sixteenth century Cumbrian origin) 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. I (N3461, sixteenth century North Yorkshire origins) got a FGC11397+ result (one of the phylogenetically equivalent SNPs below Z2571) from YSEQ in June, 2014, as have several others who since tested single SNPs with either YSEQ or FTDNA. Northern Swedish BigY and 111 STR Rox2 match, Persson FTDNA kit 330933/YFull kit
YF02413was added to the YFull tree under Z2571 in December, 2014.
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)
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) 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 Z2571 results. Mugford, kit 159450, England is Z2571+. He is DF84- and also FGC11397- (a Rox2 defining SNP). Kit 159450, does not look to have tested for Z2572/CTS11567 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.
Group Nb. contains Z2572/CTS11567+ results. CTS11567 (also known as Z2572) is a SNP of Rox2's parallel 'brother' subclade, Z2568 ( Carrier, kit 46496, France, and Norwood, kit 85133, England are positive for Z2571 and Z2572/CTS11567. As mentioned, 46496 Carrier is negative for DF84 and one of Rox2's defining SNPs, FGC11397. CTS11567
can be ordered as a single SNP at FTDNA.
Z2568* Z2570 * Z2569 CTS11567/Z2572 and DF84 (7730269 C>G) are parallel with Rox2/
below Z2571 on the YFull tree. Anonymous 1000 Genomes kits
NA19762 and HG01577
look to have origins in Spain. 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. Carrier, kit46496, from France, is positive for Z2572/CTS11567 and this SNP belongs to the Z2568 group - but unlike 1000 Genomes kits
NA19762 and HG01577, who are DF84+, kit46496
NA19762 and HG01577, under Z2568*, share DF84, Z2568, Z2569, Z2570, and Z2572. They appear to be the only kits positive for DF84 so far.A
ll parallel Z2571 subclade
Y8397 matches so far are from Northern Europe
This north/south 'split' in geographical distribution is potentially interesting and suggests at least two ancient Z2571+ subclades (Y8397 & Z2568) may have gone their separate ways at some point after the emergence of DF27>Z2571.
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 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.
I have made a draft SNP tree in order to 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.
YFull call the Rox2 cluster 'R-Y8397' after analyzing and adding Swedish Rox2 match's BigY results (YF02413 SWE) 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 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 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. (
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 Northern 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 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 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 that founder might have lived about 1200 years ago. 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. The subclade looks to have experienced a lengthy 'genetic bottleneck', resulting in a large phylogenetically equivalent block of SNPs shared by all cluster matches. 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.
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.
The wide distribution of different local surnames and the subclade's relatively young age suggests Rox2 expanded rapidly and over a wide area. Before its expansion/founding event, the subclade had possibly been a small family/clan for a very long time. Either that or the early related branches have since died out - or maybe we just haven't identified any others yet. Many Rox2 families appear to have been 'settled' early, with roots in their widely different locations. 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 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.
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 at around the same time, 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. April, 2015.