Rox2 SNPs: R1b-P312>DF27>ZZ12>ZZ19>Z34609>Z2571>(FGC11397 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 a 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 form distinct patterns and can be used to identify clusters and also estimate age. The more recent and prolific the common ancestor, the more similar and numerous the haplotypes are in today's population - they show up as a STR cluster. Those who closely match the key off-modal 'Rox2' (the early nickname for the cluster) STR 'signature' markers listed below and take SNP tests consistently find they are also positive for this subclade's SNPs. The subclade formed many years before the formation of surnames, so there are many different last names represented in the subclade today.
Existing STR results indicated Rox2 was monophyletic clade but until 2014 (before NGS, or Next Generation Sequencing testing by kits N3036 and 134765) 'Rox2' remained a R1b-DF27** yDNA subclade, ie. negative for all then known SNPs below DF27. Scot, Angus Horatio Stewart, kit 142928, was the first match to test positive (derived) for DF27 back in May 2012. I (kit N3461) got a FGC11397+ result from YSEQ in June 2014, as have several other STR matches who have since tested single SNPs with either YSEQ or FTDNA. Chip-based testing from FTDNA's Geno 2.0 and BritainsDNA's Chromo2 identify no relevant SNPs below DF27. Geno 2.0 did not read P312 or DF27. After more advanced NGS testing in 2014 we know there are two ancient branches just below DF27, Z195/Z196 and ZZ12. Rox2 belongs to the early DF27>ZZ12 branching subclade, ZZ19/ZZ20. Below that is Z34609 and then Z2571.
Z2571 (23076115, C>G) A deep DF27 SNP. ISOGG: R1b1a2a1a2a6.
FGC11397 (7332619, G>A) A currently phylogenetically equivalent SNP, one of dozens below Z2571 that define the subclade. (Available to test at YSEQ.net and FTDNA)
Many top layer DF27>ZZ12 (Z195-) SNPs were omitted from FTDNA's R1b-M343 SNP Pack, including Z2571. A Rox2 match will only get a DF27+ result from that test. A DF27 Panel from YSEQ tests many of the currently known DF27>ZZ12 SNPs omitted from the FTDNA backbone test. FTDNA have now released an almost identical DF27 pack that includes all Rox2's key SNPs. The Rox2 off-modal STR pattern of 11 key markers is so reliable over 111 markers that a match can go straight for a single FGC11397 (or equivalent) test if further final SNP confirmation of a match to Rox2 is needed. A NGS test, like BigY, will highlight one's unique 'family' SNPs below that shared block of equivalent SNPs. As more people take NGS tests, more related branches below Rox2 will emerge.
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 read under half of the 45-ish Rox2 relevant SNPs present in the two FGC tests. Since 2014 there have been several Rox2 BigY tests. Numbers of returned SNPs can vary from one company's test to another.
The phylogenetically equivalent SNP block shared by all subclade matches might be imagined as a chain of descent with dozens of SNP 'links' in that chain below Z2571. However, we don't know the (chronological) order of the links yet. Outside the shared block there are a smaller number of reliable SNPs for each surname leading to the present day (roughly one dozen in BigY). These 'family' SNPs are unique to each respective lineage that has taken a NGS test so far. There is wide variation in the numbers of SNPs different individual lineages experience, SNPs are not as regular as clockwork. However, the numbers average out across several kits. As a very rough guide, BigY might on average identify one reliable SNP around every 100 to 110 years for a Rox2 kit.
If, for example, a subclade was descended from several sons of a recent common ancestor (say, a man born in 1750 AD), then there might be few unique family SNPs in evidence in each separate line of descent from that man visible in BigY. Also, the genetic distance (GD) between the cluster's STR haplotypes would be very low. If, however, the common ancestor was born in 1350 AD, then around half a dozen reliable SNPs (ones that are readable in BigY) could have occurred since that man was born. The STR haplotypes would usually have a higher GD too.
FGC11414 is a branch point just below Rox2's block of phylogenetically equivalent SNPs, as is 'brother' subclade, Y17484. The two kits below 'lead' SNP Y17484, 342681 and N18197, have the same surname variation (McAuley) and BigY results indicate they share five SNPs after the Rox2 founder's time. That shared SNP block indicates that the two kits have common ancestry - possibly for a period of several hundred years after the Rox2 founder's time. Then 342681 and N18197's common ancestor (McAuley) was born and the two families branch from that point.
FGC11414 appears to have three branches below, or 'downstream' of it. One branch, FGC11407 plus equivalents 7031104 C>T and FGC11419, has the two FGC tested kits, N3036 and 134765. FGC has better coverage than BigY. Another branch, FGC11414*, contains BigY tested kits, 92933 and 330933 (the asterisk indicates no further branching known below FGC11414). A newly emerged third branch below FGC11414, 28519438 C>T, contains kits 223803 and 273347. The remaining branch, Rox2*, containing kits HG00107, 66501 and B24208, shows no apparent branching below Rox2's main phylogenetically equivalent block of SNPs.
DIFFERENT 'LEAD' SNPs & SNP NAMES = SAME THING (ROX2)
A 'lead' SNP is a SNP used at the start of the phylogenetically equivalent block to represent the subclade. It is not the first, last or 'terminal' SNP, it's just one someone chose out of the few dozen equivalents to be at the start of their list. YFull use Y8397 (FGC name FGC11374) as Rox2's lead SNP in their tree. YFull have also given their YFS names to some of the other phylogenetically equivalent Rox2 SNPs already named by FGC, eg. FGC11395 is known as Y8842. 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. The above SNPs are getting picked as lead SNPs from the shared SNP block below Z2571 and all are phylogenetically equivalent to the SNP originally chosen to represent the subclade, FGC11397, at the moment. It is available to test at FTDNA under 'Advanced Orders', or at YSEQ.
Those kits on the Big Tree and YFull's tree are only the ones who have taken expensive NGS tests and submitted results for analysis. NGS-based phylogenetic trees do not include the many other STR and individual SNP tested matches that exist in the databases. Comprehensive NGS tests, like BigY, taken in conjunction with 111 STRs, are the ultimate hi-res DNA genealogy combo at the moment. Those using this combination of tests are taken as near to their 'terminal' Rox2 SNPs as is currently possible. As more matches with NGS tests share their results and appear on the phylogenetic trees like the Big Tree, more recent SNP defined branching within Rox2 lineages will be revealed.
FTDNA DF27 PROJECT & Z2571
The FTDNA R1b-DF27 and Subclades Project has two sections for Rox2 matches.
Group F8a1. contains Rox2 STR matches who have taken NGS tests or SNP tested for one of the equivalent defining SNPs. Group Uf. contains off-modal STR matches who have not taken NGS tests or one of the equivalent subclade defining SNPs.
Do get in touch here if you are unsure whether you match the Rox2 cluster.
Group F8a. has a Z2571 result, Mugford, kit 159450, England. He is DF84-. Kit 159450, does not look to have tested for CTS11567/Z2572 yet. This SNP might be worth investigating for kit 159450 because it has been found that some Z2571>CTS11567 kits are negative for DF84. Therefore DF84 is not equivalent to CTS11567. DF84 is a subclade below, or downstream of, CTS11567, contrary to what some trees currently suggest. CTS11567
can be ordered as a single SNP at FTDNA.
Group F8b. contains Z2571>CTS11567* results. CTS11567 (also known as Z2572) is an ancient parallel 'brother' subclade to Rox2, below Z2571. Carrier, kit 46496, France, and Norwood, kit 85133, England are positive for CTS11567/Z2572. Both are negative for DF84. Kits 4682 and B38038 recently been added. Unfortunately the new R1b-M343 SNP test omitted DF84 (as well as Z2571 and FGC11397).
An anonymized spreadsheet containing 2000 Chromo2 results was released by BritainsDNA in 2014. Two kits (1525 and 1903) were CTS11567+ and DF84- but one (1525) was CTS11567+ and S25893+. Therefore, S25893 possibly indicates another subclade below CTS11567/Z2572, parallel with DF84. S25893's position is 23843638 (G>C).
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/CTS11567.
At the FTDNA DF27 project, kit N119082, Haedo, with origins in Biscay in the north of Spain is CTS11567+ and has recently (June 2015) tested DF84+. This is the first DF84+ result I have heard of outside the 1000 Genomes data. N128161, Gelpi, from Catalunya, Spain is CTS11567+ but does not look to have tested for DF84. Neither kit has STR results but their Geno 2.0 results are listed in the DF27 project's SNP section. DF84 is not in the Geno 2.0 test but it can be ordered separately. Future NGS testing by CTS11567+ individuals should further clarify subclade branching in this area of Z2571.
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 all previously available chip-based tests.
Z2571 and FGC11397 are available for testing at FTDNA and YSEQ.net. To further research and understanding there are certain things one can do. If you test positive for Z2571, FGC11397 etc. let one of the DF27 project admins know in order for them to move you to the correct group. Ask any questions at the Yahoo DF27 group, the FTDNA forum or the FTDNA DF27 project Activity Feed. Upload STR results to YSearch.org. Make sure you join your FTDNA surname project and the DF27 and Subclades Project. It's important for matches outside a surname project to also be able to view and compare results but default privacy settings for new FTDNA kits mean new STR results are invisible to others. Matches within a subclade like Rox2 span a number of surname projects with origins in different countries. Results need to be compared. In order to get the maximum information out of BigY or FGC tests it is necessary to compare with other results on phylogenetic trees, like YFull's or the Big Tree (mentioned above). To share results 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. Alex Williamson maintains a Big Tree here using files that are uploaded to the DF27 Yahoo Group or are sent to him via the address on the website. YFull will analyze NGS test results for you and add them to their tree for $49. Full Genomes (FGC) will analyze BAM files for $50.
Interestingly, in that it concerns P312 (the ancient 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. 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 high 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). Recently, more 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 this 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 America and many Rox2 matches are descendants of people who emigrated from the British Isles and Ireland to North America and now live there. Emigration patterns were not the same across the whole of Europe and parts of rural eastern England, Wales and especially Continental Europe are less well represented.
A subclade founder appears to have been active in the Early Middle Ages. Of course, the Rox2 yDNA lineage existed before then (evident from the shared block of dozens of equivalent SNPs) but the similarity of many high resolution modern-day Rox2 haplotypes suggests someone in the line produced a large number of descendants at that time. Time to most recent common ancestor (TMRCA) estimates suggest the founder might have lived about 1250 years ago +/- a margin of error. See (here) for how this estimate was arrived at. Possibly due to social selection, several sons of the Rox2 founder appear to have survived into adulthood in early medieval society. Some of those sons may have been 'chips of the old block' and likewise distributed their ancestral yDNA widely by having several sons themselves. Rox2 looks to be an Early Medieval Period founding event by a member of relatively incongruous DF27>Z2571 subclade in the British Isles.
In 2014 results from NGS testing at last identified the previously 'missing' SNP block of SNPs shared by all STR cluster matches so far. This lengthy list of shared equivalent SNPs, over three quarters of the total, possibly suggests the subclade experienced a prolonged 'genetic bottleneck'. Bottlenecks can happen with a reduction in the population and/or a long period of no growth (small family), followed by a founding event and demographic expansion after near extinction. A founder might have moved from one area to another, precipitating a founding event in the new location. It is possible distant (ancient) subclade cousins, from a time before the more recent founder, have not been picked up yet in the mainly Western European hobbyist databases. This apparent isolation/incongruity contrasts with British Isles-heavy subclade, L21>DF13, who do know many of their anciently related cousin branches in Britain and Ireland. So far, this does not look to be the case with DF27>Z2571 Rox2.
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 subclade founder, although a few surnames might be fixed earlier or later. Rox2 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 reliable way of tracing back over 1000 years but can give background to the general geographical locations and origins of earliest recorded ancestors (in parish records, mostly beginning in around the sixteenth century). The Industrial Revolution of the late eighteenth century saw populations become more mobile, resulting in movement around the British Isles. Modern hobbyist DNA databases represent where some of a subclade's descendants were in relatively recent times. Modern subclade distributions can be quite different from their earliest origins in the distant past. Archaeologists are now beginning to study ancient DNA and this might lead to a better understanding of where certain subclades were thousands of years ago.
The broad distribution of different, usually locally specific surnames, and the subclade's relatively young age, might suggest Rox2 expanded quickly over a wide area (a rapid demographic expansion after one, or more, founding events). The haplotypes of all Rox2 matches are very similar and trace back to one narrow point in time. 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 numbers of Swedish Rox2 matches are natives of their country and some also trace back to the beginning of parish records there, in the sixteenth century in and around Bureå, Skellefteå and Northern Sweden.
No early branching subclades have turned up yet between ancient Z2571 and the Rox2 subclade founder. As mentioned, perhaps most of the ancient branches went extinct, or maybe they are yet to be found in a less well tested place. It is possible, with more NGS testing over the next few years, that early branches could be found. Central and Eastern Europe, Western Asia and Scandinavia are not well covered by NGS yDNA testing yet. There has been poor understanding of Z195-/Z196- (ZZ12+) subclades due to the inability of chip-based SNP testing technology used for 'top-layer' tests like FTDNA's Geno 2.0 to 'see' DF27. Z2571 and other deep DF27>ZZ12 subclades were omitted from FTDNA's latest R1b-M343 SNP Pack. No accurate and comprehensive Europe-wide mapping of all DF27 has been done 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 (convergence. High resolution Rox2 off-modal STR matches have been consistently receiving the same SNP results as each other for some time. It is not unusual for someone to differ on one or two of the Rox2 ancestral key off-modal markers.
Unrelated subclades of R1b-P312 can match STRs through pure chance at only 37 marker resolution. For example, the L21>DF13>L1335>L1065 'Scots Modal' 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.
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 was always a monophyletic clade.
The cluster was named 'Rox2' around ten years ago by Jim Turner, who created the YSearch ID: 3QNM8. I first tested in 2005. The term has stuck after early discussions. It was, and is, a useful shorthand way to describe a subclade currently known by several different equivalent lead SNPs. Some of those SNPs are now gaining multiple names. Rox2 is easier to remember.
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. November 2015.