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Rox2 SNPs: R1b-P312>ZZ11>DF27>ZZ12>ZZ19>Z34609>Z2571>FGC11380>(FGC11397 and a few dozen phylogenetic equivalents). YFull name: R-Y8397

A yDNA cluster is essentially a group of present-day men who share similar Y-STR results - this indicates possible descent from the same earlier male common ancestor. SNP testing can then confirm a STR cluster match to be a member of a SNP defined subclade (a related group). 'Rox2' is the nickname for this particular cluster/subclade and its 'signature' STR pattern was first noticed in 2005. The Y chromosome is passed down virtually unchanged to 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 that are unique within the general population. The pattern can be used to identify potential matches and also estimate age. The more recent and prolific the common ancestor, the more similar and numerous the haplotypes are in today's population. Rox2 can be clearly identified using STR markers alone (see below under STR IDENTIFICATION). Those who closely match the key off-modal Rox2 'signature' markers over 111 markers and take SNP tests consistently find they are also positive for FGC11397, FGC11369, FGC11394 or any other currently equivalent Rox2 defining SNPs when they test for them. The subclade formed centuries before the fixing of surnames and as a consequence there are many different surnames represented in the subclade today.

TMRCA (Time To Most Recent Common Ancestor) estimates suggest the Rox2 subclade founder (a man) lived around 1250 years ago (born about 750 AD), + or - a generous margin of error. In broad terms, it is highly likely the subclade was founded in the Early Middle Ages (some time between the 5th century and the 10th century AD). That Rox2 founder had at least five 'sons' who's lineages can be traced to the present-day. Prior to relatively recent emigration to worldwide colonies, Rox2 appears to have had a northern European geographical distribution, the most southerly match being from northern France so far. 

Note: FTDNA is currently upgrading from build hg19 to hg38. The 'hg' stands for 'human genome'. This affects position numbers not SNP names.

DF27

DF27, the deep c. 5000 year old subclade Rox2 descends from, is the largest and most widespread of the ancient R1b-P312 subclades but is the most difficult to identify, partly due to where DF27 is located on the Y chromosome. The technology used in chip-based SNP tests can't identify DF27. Rox2 matches who have only taken these tests and have no STRs will remain unidentified and invisible in the databases. However, 'NGS' (Next Generation Sequencing) testing does highlight the downstream SNPs and understanding is improving with the sharing of results on phylogenetic trees. Also, STRs tested at FTDNA can identify Rox2.

At last, after more extensive post-2014 DF27 NGS testing (using FGC and FTDNA's Big Y) and analysis by Alex Williamson, two ancient groups just below DF27 were revealed. They are ZZ12 and the smaller, parallel subclade that had already been known for several years, Z195/Z196.
Rox2 is DF27>ZZ12+. Its ancestral branch below ZZ12 is ZZ19/ZZ20. Subclades under ZZ19 are widespread and present-day descendants are found all across Europe, including in Sweden, Finland, Poland, Denmark, Czech Republic, Germany, Austria, Armenia, Italy, France, Spain, Portugal, Britain and Ireland. ZZ19 is a very large subclade, making up over one third of the total of all DF27>ZZ12 on the Big Tree. Below ZZ19 is Z34609. Z34609 has three currently known 'sons', 1. Z2571, 2. hg19 7605936 C>G/hg38 7737895 C>G (plus six more equivalent SNPs) and 3. hg19 7811558 C>T/hg38 7943517 C>T/FTDNA's BY21094 aka Y33093. (plus seven more equivalent SNPs). These ancient 'top layer' subclades were in existence before around 4500 BC. Those who remain Z34609*  indicate that more subclades await discovery below Z34609. Kits below Z34609 that are negative for Z2571 are from widespread areas, Armenia, Czech Republic, Italy and Iberia.

'Son' of Z34609, Z2571, has two ancient parallel subclades downstream of it, they are FGC11380 (YFull now has a mini-phylogenetically equivalent block here, R-Y8841: FGC11385 * FGC11384 * FGC11380/Y8841) and CTS11567. Rox2/FGC11397 is downstream of FGC11380/Y8841. I (kit N3461) got a FGC11397+ (Rox2) result from YSEQ in June 2014, as have several other STR matches who have since tested single SNPs with either YSEQ or FTDNA. See this diagram.

ROX2 SNPS

Z2571 (hg19 23076115 C>G, hg38 20914229 C>G) A deep DF27 SNP. ISOGG: R1b1a2a1a2a6.


FGC11380 (hg19 23098886 T>C, hg38 20937000 T>C) Early branch point. (Big Tree FGC11380 Y8841, 22220783-C-T, YFull's R-Y8841: FGC11385 * FGC11384 * FGC11380/Y8841)


FGC11397 (hg19 7332619 G>A, hg38 7464578 G>A) 'Rox2'. A currently phylogenetically equivalent SNP, one of a block of dozens of SNPs below FGC11380/Y8842 that define the subclade. (Available to test at YSEQ.net and FTDNA). The Big Tree leads with FGC11388. YFull lead with Y8397 (FGC name FGC11374).



TESTING FOR ROX2


The best and simplest yDNA testing approach to clearly identify a Rox2 match is to get a NGS SNP test (eg. Big Y, YSEQ or FGC) and then upload those NGS SNP results to an external public phylogenetic tree (Big Tree). The FGC NGS test picks up more Rox2 SNPs than Big Y. YSEQ's NGS test has more coverage than Big Y and includes mtDNA and autosomal DNA. Analysis on the Big Tree is free and arranges your results into a more easily understandable 'family tree' format. Additionally, there are a large number of existing Rox2 111 STR marker matches, so an upgrade to the full 111 markers at FTDNA can also be very useful (join the FTDNA DF27 project). A match with the eleven off-modal signature markers over 111 markers is as clear an identification of Rox2 as a single FGC11397/FGC11369 etc. SNP test.

*During the current (2017) Holiday Sale, FTDNA is offering an upgrade to 111 STR markers free with orders of their Big Y test. The sale price is $475. Offer ends 31st of December, 2017.*

NGS results, when added to a phylogenetic tree, like The Big Tree or YFull's tree, can highlight which specific branch of Rox2 you belong to, if currently known. If your Rox2 branch is not currently known, a branch will form when a more close match subsequently uploads their NGS results to the tree in the future. However, little will be learned by a living y relative, or a known cousin (from one's own close family tree), taking a Big Y NGS test, the results may be identical to yours - Big Y identifies on average one new SNP approximately every 100 years for Rox2. Progress can only be made if new results are shared, answers come from comparing results with others on phylogenetic trees and at the FTDNA DF27 project. There are occasional sales at FTDNA - there is often a sale at Christmas on Big Y or STR upgrade tests.


For those more familiar with DNA genealogy, the subclade's many SNPs can be tested for individually in a targeted way (e.g. YSEQ) - or a handful (not all) can be tested in specific DF27 SNP 'packs'. If there are several closely related NGS kits, a family SNP pack is possible. SNP packs are relatively cheap but much less informative than NGS tests (see below). FTDNA 'backbone' R1b-M343 and R-P312 SNP packs released in 2015 do not include any Rox2 identifying SNPs and should be avoided if you know you match Rox2. Fortunately, the Rox2 off-modal STR 'signature' pattern of 11 key markers is reliable for identifying a Rox2 match over 111 markers. A single FGC11397 (or equivalent) test can provide SNP confirmation of a match to Rox2 if needed. The next big testing development will be WGS (Whole Genome Sequencing). NGS results interpreted through a phylogenetic tree will probably/hopefully one day become the default entry-level test for DNA genealogy.

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. 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 equivalent SNP block present in the two FGC tests but 'private' SNPs below the shared block compare well between the two tests.

The large 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>FGC11380. However, we don't know the (chronological) order of the links. So far, that block/lineage is unbroken in thousands of years, from at least around 4300 years ago (YFull estimate) up to about the eighth century AD (+/-). In that large passage of time no branches survive, or they have yet to turn up. That could happen one day. This very long SNP 'bottleneck' ends with a sudden founding event around 1250 years ago (+/- a century or two), i.e. several branches suddenly appear after about 750 AD. More high-resolution SNP testing in the future will help refine the complex branching.

Underneath the Rox2 shared block, a smaller string of more recent SNPs have accumulated over time for each lineage down to the present day (on average roughly just over one dozen 'definite'' SNPs in Big Y - i.e. SNPs that are not insertions/deletions or other more complex mutations that the automated technology has difficulty reading. Those SNPs have happened in the time between the founder's birth in around 750 AD (+ or -) and the present. If any of those SNPs are shared with another Rox2 kit (after comparison on a phylogenetic tree like the Big Tree) a new branch will form. That branch highlights the point where both kits share a common ancestor. There is wide variation in the numbers of SNPs different individual lineages accumulate during the same passage of time, SNPs are random and are not as regular as clockwork. However, the numbers average out across several kits. As a very rough guide, Big Y might on average identify one definite SNP in approximately 100 years (3-4 generations) for a Rox2 kit. This may vary in other subclades.

If for example a young 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. 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 half a dozen reliable SNPs could have occurred since that man was born. The STR haplotypes would usually have a higher GD too. As mentioned, by chance some families might experience fewer or greater numbers of SNPs in the same time periods.

In summer 2017, FTDNA began changing their haplotree and gave their own 'BY' (Big Y) names to some 'family' downstream Rox2 SNPs. In autumn 2017 they began changing Big Y SNP position numbers. FTDNA, YFull and YSEQ appear to have their own ideas/criteria about what SNPs, names and positions are included in their trees. They can leave out some of the important SNPs, Indels or STRs , i.e. ones that are difficult for the current (automated) technology to call. I am focusing more on the Big Tree here because it identifies and includes key branching (ZZ12 etc.) that is currently omitted by other trees. The age estimates are a work in progress there but the Big Tree is a user-friendly phylogenetic tree, particularly with its use of recognizable names, positions and kit numbers.

There are currently five deep subclades below Rox2 represented on the Big Tree. These deep subclades might be thought of as 'sons' of the Rox2 founder but not necessarily actual sons - they could well be - but the SNP mutation might have happened a generation or two down the line. They are parallel lineages descended from different common ancestors, their connection is their Rox2 'father'. NGS testing followed by uploading results to phylogenetic trees, like Big Tree, highlight actual lineal descent with SNP-defined branching. Two close Rox2 STR matches might occasionally have very low genetic distance from each other by random coincidence (convergence) at lower resolution. This can give the incorrect impression that the two matching STR haplotypes are closely related. Fortunately, NGS tests, using SNPs, see through this. For example, a member of Rox2 subclade A12543 is an almost identical STR match (over 67 markers) to a member of Rox2 subclade Y17787 but is still unrelated in over 1000 years.

Those five NGS-identified Rox2 deep subclades (so far), as seen on the Big Tree, are: 1. FGC11414, 2. 22473922 T>C/A17453, 3. Y17787, 4. 7653325 G>A /A12543, 5. FGC39762.
  • FGC11414 (hg19 21864531 C>T, hg38 19702645 C>T) is itself the result of a large founding event and has several branches below, or 'downstream' of it - they are 'sons' of FGC11414. Three have been identified so far. One branch, FGC11407 (plus equivalents hg19 7031104 C>T/hg38 7163063 C>T and FGC11419) has the two FGC tested kits, N3036 and 134765. FGC has better coverage than Big Y. hg19 28519438 C>T/hg38 26373291 C>T (BY21591), contains Big Y kits 223803 and 273347 with different earliest known ancestors from Yorkshire. A currently exclusively Swedish Rox2 branch is represented by 8241021 G>T (YFull's Y23589) and equivalents hg19 13670159 C>T/hg38 11514483 C>T (FTDNA's BY21590), hg19 15944592 A>T (recurrent), hg19 22062646 A>G/hg38 19900760 A>G (Y23590) has kits 330933, 416295 and 367358 below it. FGC11414* has kits 92933 and B76932 (the asterisk indicates no further branching known below FGC11414). See the Phylogenetic Tree page. The three subclades of FGC11414 have been existing in parallel since the earliest days of Rox2. Their connection is their 'father', FGC11414. The places of birth of different FGC11414 subclades could be nearby, or distant from, the location their FGC11414 father was in nine months previously. The presence of FGC11414* kits indicate more 'brother' subclades will develop downstream of FGC11414 as new NGS results are added to the trees.
  • A17453 (hg19 22473922 T>C/hg38 20312036 T>C). Immediately below this is A16311 (hg19 20663937 G>T/hg38 18502051 G>T). Notes regarding A16311 on the Big Tree say, '*Mutations whose exact position can't be determined precisely from NGS tests, such as those in palindromes, are shown with a pink background.' There are at least two known 'sons' of A16311. They are A16155/BY21584, position hg19 2826567 A>G/hg38 2958526 A>G/ (plus two equivalents) and Y33105, position hg19 15163894 C>T/hg38 13051980 C>T (plus three equivalents). Kit 271969 remains A16311*. Kits who are currently * should find their branch when further NGS kits are uploaded to the Big Tree. A17453 has the potential to be a large subclade. Some kits below this subclade have been given new (summer 2017) 'BY' names by FTDNA. Two new kits below this subclade are yet to be finalized on the Big Tree, I will update here when they are.
  • Y17787 (YFull use equivalent Y17484 as lead SNP, Big Tree and FTDNA use Y17787) kits share four equivalent SNPs after the Rox2 founder's time. That shared SNP block indicates that kits below it have common ancestry with kit 185183 for a 'bottleneck' period of a few hundred years. Then, the present-day DF27+ Macauley families branch off from a common ancestor identified by a couple of equivalent SNPs, Y17484 and FGC45672. There are currently two identified early 'sons' of the Macauley 'father of the family', Mr. Y17787. Those two sons are Y21522 (plus three equivalents) and hg19 19128228 C>T/hg38 17016348 C>T/Y30689. hg19 14072184 C>A/hg38 11951478 C>A/Y30752 is a son of Y30689, so he is a 'grandson' of Y17787. There are potentially two more early 'sons' of Y17484 waiting to be discovered with further testing, indicated by the presence of two 'Y17484*' kits.
  • BY21578/YSEQ's A12539 (position hg19 17153115 G>A/hg38 15041235 G>A) leads a SNP block on The Big Tree containing six other currently phylogenetically equivalent SNPs and has three members of the Hickey group, kits 66501, 535659 and 107639, immediately below it.
  • FGC39762 (hg19 position 2658866 G>C/hg38 2790825 G>C) leads a block of 15 phylogenetic equivalents on the Big Tree that so far contains two relatively recently related Simpson men.

Existing subclades will gain more definition with the addition of new NGS results. The above lineages, descendants of early 'sons' of Rox2, have lived in parallel for 1000+ years. It takes at least two kits from the same early lineage to form a new branch and that can only be identified after inclusion and analysis (.vcf and BAM files) on a phylogenetic tree.

Now that the wider subclade has several families researching their own downstream NGS-defined subclades, it is becoming impractical to include all details on this more general Rox2 webpage. Family researchers below the five currently known branches should consider creating dedicated webpages/blogs that cover latest information about their areas of the tree. That more specific information could then be linked to from here.

Rox2 SNPs, mentioned above, can be ordered or requested individually at a reasonable price from YSEQ.net. In order for YSEQ SNP results to show up on FTDNA project screens the kit owner would need to enter their YSEQ result in their FTDNA kit's 'Most Distant Ancestor' box on their
'Personal Profile' page and let the project admins know the result was from YSEQ.

(click image to enlarge)

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. Unfortunately many different names for the same SNPs have arisen since 2014 and different equivalent SNPs also get chosen as lead SNPs by different people. YFull use Y8397 (FGC name FGC11374) as Rox2's lead SNP in their treeYFull 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 currently phylogenetically equivalent to the SNP originally chosen by members of the subclade to represent their subclade, FGC11397. FGC11397 is also available to test individually at YSEQ.net.

The kits on the Big Tree and YFull's tree are those who have taken expensive NGS tests and submitted results for analysis. They represent only a very small proportion of the total number of Rox2 matches distributed across several FTDNA projects. Most have no SNP results, NGS or otherwise. Comprehensive NGS tests, like FGC or Big Y, 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 most recent Rox2 SNPs and matches as is currently possible. As more matches with NGS tests share their results and appear on the phylogenetic trees like the Big Tree, more SNP defined branching under Rox2 will be revealed.

NGS vs SNP 'PACK' TESTS

If you know you are a Rox2 match, don't order a 'backbone' SNP pack. SNP pack tests are less expensive than Big Y/NGS. However, when SNP testing for the first time in the dark (i.e. unaware of clues from off-modal STR markers that might point you to Rox2), at least two FTDNA SNP packs are needed just to eventually get to a basic Rox2 SNP identification. The cost of SNP packs begin to approach the cost of getting a much better and higher resolution Big Y/NGS test in the first place.

There could be more branching yet to be identified below the subclade's shared block - NGS testing is not yet extensive. The more limited DF27 pack chips require SNP information to be added and regularly updated. There is no guarantee that one's SNPs will be on an existing pack or panel test.

In contrast, NGS tests like Big Y highlight a Rox2 match's own dozen-or-so variously named 'family', 'private', 'novel' or 'singleton' SNPs, i.e. ones specific to your own particular lineage stretching back from you. NGS results have the potential to fill out new or existing branches from your own particular lineage when shared on phylogenetic trees. It is their presence on these trees that might lead to new SNPs being represented on any future pack tests. With a NGS test you are investing in, and adding to, further understanding of the subclade. With SNP packs you are relying on the possibility that previously tested lines might match yours. There is little need for two kits who know they are very closely related to both take NGS tests - Big Y only identifies on average one new SNP every 3-4 generations - or around 100 years.


FTDNA DF27 PROJECT

Rox2 matches should join the FTDNA R1b-DF27 and Subclades Project. Currently, a big update (November 2017) and reorganization of the project is taking place, including the upgrade of Big Y information.

Group F8. contains Z34609+ results. Z34609 is an ancient SNP, below ZZ19. Group F8b., further down the results page, contains Z34609>BY21094 kits - BY21094 (hg19 7811558 C>T) is an ancient subclade just below Z34609, parallel with Rox2's ancient subclade, Z2571.

Group F8a. (for Z2571) contains kit 617836, who is a clear Rox2 111 STR match. I assume this is a basic result from a 'backbone' SNP pack. Further SNP testing will highlight Rox2 SNPs.

Group F8ab.
contains kit 10479 (YF06513) who is Z34609>Z2571>FGC11380* (positive for FGC11380/Y8841 and negative for FGC11369/FGC11397 and all other SNPs in Rox2's SNP block). FGC11380* is parallel with Rox2. Another NGS match with kit 10479 is needed to form a branch with shared SNPs in common. YFull: R-Y8841: FGC11385 * FGC11384 * FGC11380/Y8841.

Group F8aba. contains Rox2 matches who have tested positive for one of the equivalent block's defining SNPs, like FGC11397, FGC11394 or FGC11369. Those who were once in this group but had their FGC11397+ results from YSEQ or FGC, not FTDNA, appear to have been removed and scattered in group Y., on page 4. They should be in
F8aba.. Also, group Uf. once contained a few of the many off-modal STR matches (inc. 4 with 111 markers) who have not taken NGS tests or FGC11397 etc. as confirmation yet. Group Uf. has been deleted by the admin and those Rox2 STR matches (including 244412, 279300, 300626, 440, H1145, 328073, 202611, 122148, 241356) are now also scattered under group Y.. More recent DF27 project members, kits 425593, 630251, 449235, 267927, 645879, 617836 and 203123, are in a different area of the DF27 results pages, and are also Rox2 STR matches. 

For clarity, all Rox2 STR matches should ideally be together but some kits do not appear to have tested for SNPs (although some have tested SNPs at YSEQ or FGC), so have not been placed with the Rox2 section of the results page. The title of group Y. says, 'Unable to confirm DF27 (Consider Big Y or DF27 SNP pack)'. There are other options if you know you are a Rox2 STR match. There is little doubt of a 111 STR marker DF27+ Rox2 match, even without further SNP confirmation. SNPs are useful to find your specific branch below Rox2. Many more Rox2 STR matches exist but have yet to realise it, test SNPs, or find the DF27 project. If you are a Rox2 match, do let your close matches on your FTDNA dashboard 'Matches' page know about Rox2, its SNPs, this page, and join the DF27 project. If you join another project, do not leave the DF27 project. You can belong to as many FTDNA projects as you like.

Below group F8aba. the kits are being organized into their respective subclades below the shared Rox2 phylogenetically equivalent block. Here the Big Tree and the FTDNA 'Haplotree & SNPs' differ, see the phylogenetic trees for further details.

Group F8aa. is for CTS11567 (also known as Z2572). It is an ancient parallel 'brother' subclade to FGC11380, below Z2571. With the addition of Big Y-tested kits 370005 and 46496 to the Big Tree in November 2016, a deep and ancient subclade just below CTS11567 and parallel with DF84 formed, named BY3865 (hg19 position 14878305 T>C). These kits are now below F8aab.. Downstream of BY3865 is BY3873 and these kits are in group F8aaba.. So far, BY3865 looks to have a northern European distribution and DF84 has a southern European distribution. DF84 kits are below F8aaa.. A 'north/south' geographical split appears to have formed at a very early point in DF27's existence. Many more NGS results are needed to see the distribution below Z2571. In February 2016 new sample, ERS257013, with ancestry in the south of Sardinia, to the YFull tree helped form a new branch (Z2569, containing the two South American 1000 Genomes kits) below Z2568, under DF84. This Sardinian kit comes from the Francalacci et al 2013 study of almost 2000 men with roots in Sardinia, in the Mediterranean. It seems to indicate DF84 is an ancient SNP, parallel with BY3865, with two branches (Z2568* and Z2569) springing from it so far. Kit 319215 is CTS11567*, indicating more branches are yet to be discovered downstream. DF84 is not in the Geno 2.0 test but it can be ordered separately. The DF84 kits, parallel with BY3865, below CTS11567, are from the 1000 Genomes project. A couple of Big Y or NGS-tested DF84 kits uploaded on the Big Tree would help develop branching below that subclade of CTS11567. The 2015 'backbone' R1b-M343 SNP pack omitted DF84.

An anonymized spreadsheet containing 2000 Chromo2 results was released by BritainsDNA in 2014. I found 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 hg19 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 identifying many interesting new subclades below DF27>ZZ12 that were omitted/undetected by all previously available (pre-2016) chip-based tests, like 'backbone' SNP packs, Geno 2.0 and Chromo2.


GEOGRAPHICAL DISTRIBUTION

See Distribution Maps. There is no firm evidence of a place of origin for Rox2 so far. Future ancient yDNA studies might shed some light on the matter or at least give better clues about the early geographical locations of various DF27>ZZ12 subclades in the Late Neolithic/Early Bronze Age. Specifically, it might be hoped that archaeologists will one day study a site that is found to contain the graves of Rox2 relations from the Iron Age.

Rox2 is ZZ11>DF27. Only one ancient ZZ11>DF27 man from c. 2300 BC (2431-2150 BC) has been identified so far, in what is now the middle of Germany. Mr. I0806 had a Corded Ware shaft-hole axe and a bell beaker and his autosomal DNA suggests origins to the east/Baltic. Corded Ware and Bell Beaker cultures were contemporary and overlapped. He was alive not long after the founder of all ZZ11>DF27. ZZ11 is also the 'father' of the large more easily identified ancient subclade, U152 and therefore 'brothers' ZZ11>DF27 and ZZ11>U152's places of origin are going to be close by. The oldest currently known ancient R1b-P312 remains are RISE563, who is U152+. RISE563, found in what is now Osterhofen-Altenmarkt, Germany, belongs to 'Bell Beaker East' and dates to c. 2542 BC (2572-2512 calBCE). Isotope analysis shows he was a migrant to that area. RISE563's autosomal DNA plots with Corded Ware and modern day eastern Ukrainians, Kargopol Russians and Mordovians. Therefore, ancient DNA currently suggests the earliest origins of U152 and DF27 could be in the prehistoric eastern European Corded Ware and Bell Beaker cultures, not the west. It is thought those peoples previously came from the Yamnaya Culture even further to the east, on the steppe. In present-day Europe, DF27 appears to be most frequent in Iberia, judging by early yDNA studies using modern populations. However, no ancient (Bronze Age, Iron Age etc.) DF27 has been found there so far in archaeological studies.

There is modern DF27 from the east of Europe and in Armenia and DF27>ZZ12>ZZ19 is a large and extremely widespread subclade. ZZ19, the branch Rox2 descends from, appears to have a presence all across Europe, from the north, east, south and west. Recent (July 2017) NGS kit from Armenia, via Iran, 657355 Aviet, belongs to the same ancient branch as Rox2 (DF27>ZZ12>ZZ19>Z34609). Kit 657355's new subclade, also containing N123269 Serra from Spain, at the opposite end of Europe, is led by hg19 7605936-C-G from a phylogenetically equivalent block of seven SNPs. Z34609* kits originate in different countries, including Czech Republic, Italy, Iberia and Germany. Given Rox2's lengthy phylogenetically equivalent block (bottleneck) and incongruity in western European yDNA databases, its ancestry could ultimately trace back to an early central or eastern DF27>ZZ12 lineage before its arrival in northern Europe, perhaps in Late Antiquity.

Today, going by higher resolution Rox2 STR and SNP matches, the Rox2 subclade has an exclusively 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). Matches also turn up in numbers in southern England. The proportion of tests of Ireland/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.

Early 'heat maps' made to represent DF27 distribution across Europe use patchy modern data made up of just a few of the more easily identifiable downstream subclades and do not reflect the actual distribution and frequency. Geographical holes are especially pronounced for the large number of 'invisible' ZZ12 subclades, i.e. ones chip-based tests can't see. ISOGG (used by ancient yDNA studies) has much lower resolution for downstream DF27 SNPs and other non-L21 P312 subclades. In contrast to those earlier chip-based (pre-2017/NGS) studies that produced undifferentiated P312* for DF27, the recent (October 2017) study, Defining Y-SNP variation among the Flemish population (Western Europe) by full genome sequencing by Maarten H.D.Larmuseau et al uses NGS testing. As a consequence, that study accurately reports all DF27. Hopefully this is a sign of better things to come. R1b made up 61.5% of the Flemish study. There are 22 DF27+ samples out of the 270, or 8.14% of all Flemish yDNA. 12 of those are probably ZZ12. Of particular interest to Rox2, three of those DF27>ZZ12 Flemish men are R1b R-Z34609. This is Rox2's own deep (ancient) subclade immediately downstream of ZZ19, although none of the three are Rox2 matches.

However accurate they might be if they could actually see all DF27, heat maps made with modern hobbyist data, not ancient yDNA, give no indication of the origin or distribution of subclades in ancient times. Parts of rural eastern England, Wales and especially continental Europe are lightly represented in the hobbyist databases in comparison with Ireland and Scotland - those countries are well represented. If we were to pick an individual modern European haplogroup or subclade at random, it might have highest present-day frequency in Britain/Ireland because that is where the most DNA hobbyists (in America) trace their ancestry. It does not necessarily mean the ancient haplogroups were born in Britain/Ireland. Forthcoming ancient yDNA studies 'on the ground' are preferable when addressing population movement in prehistory. In a couple of years there could be tens of thousands of ancient genome sequences. In studies of FTDNA results it looks like DF27 makes up around 1 in 10, give or take, of the R1b population of northern Europe, i.e. around 10% of all R1b in Sweden, Finland, Denmark, Germany, Poland, Baltic States, Low Countries, and England. It appears to be found in lower numbers in Ireland, Scotland and Norway. Of course, these figures are based on skewed hobbyist data and DF27 is not always clearly identified within the wider P312 population.

The distinctive yet incongruous characteristics of the subclade, combined with its estimated age and distribution, might suggest a founding event/s, following migration by one man's descendants in northern Europe. TMRCA estimates, bearing in mind the generous margin of error, indicate this probably took place some time between the Migration Period (300- 500 AD) and the Norman Conquest at the end of the eleventh century - so there is a good likelihood that the founder was alive some time in the Early Medieval period. The earlier Migration Period and the later Norman Conquest in England bookend the Viking expansion and diaspora across northern and western Europe. The people of that diaspora settled in many of the same areas that Rox2 matches are found. By the 1100s AD the subclade could have already become established in several independent family lines (SNP branches) in many different locations.


FOUNDER


A subclade founder appears to have been active in northern Europe in the Early Middle Ages. Of course, the Rox2 yDNA lineage existed before then but the similarity of many high resolution haplotypes today, combined with the sudden branching of several SNP-defined subclades immediately downstream of Rox2's singular and lengthy shared SNP block, suggest a man and/or some of his sons produced a large number of descendants in the Early Middle Ages. Time to most recent common ancestor (TMRCA) estimates suggest the founder might have lived about 1250 years ago +/- a margin of error. Possibly due to his circumstances, offspring of the Rox2 founder appear to have flourished in Early Medieval society - with a sudden and rapid expansion of several 'brother' branches in the ninth and tenth centuries AD. Subclades downstream of Rox2 appear to be the result of an Early Medieval Period dynastic founding event in northern Europe. At this stage I would tentatively suggest the evidence points to a connection with the Uí Ímair.


In 2014 NGS testing by two Rox2 matches at last identified the large but invisible (to commercial testing) block of SNPs below DF27. After further extensive NGS testing by many more people, that block remains intact. This lengthy list of shared equivalent SNPs, over three quarters of the total for a Rox2 match, suggests the subclade experienced a prolonged 'genetic bottleneck'. Bottlenecks can result from a migration of an individual (or small related family group) from an original homeland, followed by a founding event some distance away. They can occur if male-line branches are 'pruned' to only one surviving individual who then goes on to have several surviving offspring. Rox2 might be imagined in gardening terms as an extremely long and thin tree trunk with uncertain roots that suddenly bursts into a very bushy canopy. It is possible that older and geographically/genealogically distant subclade 'cousins' have not been picked up yet in the mainly Ireland and British Isles-heavy American hobbyist databases. They might be found, if they still exist, in a country far from Ireland and Britain. The chances of a lineage only just surviving in its place of origin from generation to generation (one male per generation) and remaining 'bottlenecked' for around three and a half thousand years must be quite slim. Population numbers were comparatively low 1000+ years ago and the times could be tough (violence, natural disaster, disease etc.). If Rox2 came from a small family, the other male family members could have died out in their ancestral homeland. Without the big founding event around 1250 years ago, no one would have been aware of their existence today. The evidence they existed is in our y chromosomes. Rox2 seems to be the result of the sudden appearance of one man and his sons.


Due to the long bottleneck and the sudden and relatively recent appearance of several downstream Rox2 subclades all at once, it is hard to say precisely where the Rox2 individual's lineage was before the Early Medieval Period - there are no definite geographical traces for thousands of years before the birth of the Rox2 founder. This apparent rarity/incongruity contrasts with subclades downstream of 'brother' P312 subclade, L21>DF13, who do know - and are surrounded by - many of their ancient related 'cousin' branches in Britain and especially in Ireland. Most old clans/families with early Celtic/Ancient Briton origins are L21>DF13. In contrast, Rox2's shared equivalent SNP block (i.e. the few-thousand-year-bottleneck) appears to stretch from the earliest times of DF27 to about the eighth century AD, with no evident branching of cousin lines. Some L21>DF13 lineages were clearly present in Bronze Age Britain and Ireland, this being confirmed through ancient yDNA testing of ancient remains at Rathlin Island, off Northern Ireland, buried in a Food Vessel context in around 2000 BC. Ten more 'Bell Beaker' L21s have been found in the British Isles in latest studies. Their steppe-like autosomal DNA differs from earlier indigenous Neolithic people in Ireland but no ancient L21 has been found outside the British Isles and Ireland so far - even the 'Behemoth' ancient yDNA papers released in May 2017 found no new L21 in Europe. The full Olalde et al paper, when it's published, is rumoured to contain more L21 and non-L21 R1b findings in Britain but still no ancient L21 in mainland Europe. No ancient DF27 has been found inside the British Isles or Ireland yet. The preprint of the paper (May, 2017) included 196 Neolithic and Bronze Age Europeans and 109 Bell Beaker Complex individuals (link). No DF27 was highlighted in this study but might eventually be found in the abovementioned additional P312xL21 raw data if/when that data are released.


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 hint at 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 and overseas to British colonies. 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 origin. Archaeologists are now beginning to study ancient DNA in depth and in the next few years many thousands of ancient genomes will be tested.


As mentioned, the sudden appearance of Rox2, springing as it does from an incongruous and bottlenecked subclade of DF27, could be indicative of a founder/s entering Britain/Ireland from elsewhere, i.e. continental Europe. If I had to guess at present, I'd suggest a point of departure in Scandinavia. This is not to say Scandinavia was necessarily the subclade's 'home', the founder's family might have been there for only a couple of generations or thousands of years. We don't know because we have no ancient yDNA evidence yet. However the broad distribution of different, usually locally specific surnames and the subclade's relatively young age suggests Rox2 expanded quickly over a wide area (a rapid demographic expansion after one or more founding events). The STR haplotypes of all Rox2 matches are very similar and trace back to one point in time. That time, and locations of descendants, coincides with the expansion and diaspora of Vikings around the northern British Isles and Ireland. 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 are old rural families in their country too and trace back to the beginning of parish records there, in the sixteenth century, in and around Bureå, Skellefteå Municipality in Northern Sweden. As with my Yorkshire ancestors, Sweden Rox2 are likely to have been in the same locality (Northern Sweden) centuries before parish records began.

Central and Eastern Europe, Western Asia and Scandinavia are not as well covered by NGS yDNA testing. There has been poor understanding of DF27>ZZ12+ subclades in academic studies, partly due to the inability of the chip-based SNP testing technology to 'see' DF27. For example, the abovementioned Bell Beaker/Corded Ware burial (I0806 from Quedlinburg, Germany) was initially found to be P312+ and dated to 2431-2150 BC. They were unable to get a read for any downstream subclades at the time but in September, 2016 it was discovered that I0806 could be DF27+). On closer inspection, DF27 SNPs were eventually noticed. (link) (link2) (link3). The same problems of initial invisibility of DF27 seems to be an issue with the May 2017 'Behemoth' Bell Beaker papers too. Hopefully further analysis of SNPs in the raw data when it is made available will reveal if some of the P312* samples are in fact ZZ11 or DF27. The recent use of NGS testing in the 2017 Defining Y-SNP variation among the Flemish population (Western Europe) study gives cause for optimism.


STR IDENTIFICATION


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 off-modal pattern across 111 markers is very strong and can be used to predict SNP results. 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) at low resolution, i.e. 37 STR markers or less. It is not unusual for a haplotype to occasionally differ on a few of the Rox2 ancestral key off-modal signature markers but the general pattern remains clear across 111 markers.


Unrelated subclades of R1b-P312 can match Rox2 STRs through pure chance at only 37 marker resolution. For example, the L21>DF13>L1335>L1065 'Scots Modal' has similar key off-modal markers to Rox2's at low resolution. Until 2008 it was thought there might be some relationship between Scots Modal and Rox2 because of the similar off-modal STR markers but the advent of L21 testing showed that Rox2 was L21-. 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. N.B. As they belong to two parallel subclades of P312, there is no connection between DF27 Rox2 and L21>DF13>L1335>L1065 'Scots Modal' in around 5000 years.


Many more potential matches exist at 37 marker resolution but their relationship to Rox2 is impossible to confirm for many of them at such low resolution with no SNP tests.



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.


KEY ROX2 OFF-MODAL MARKERS OVER 67 MARKERS:    DYS391=10 (P312 modal=11)    DYS389ii=30 (29)    DYS449=30 (29)    DYS607=14 (15)    DYS534=14 (15). The 68-111 marker section in the FTDNA test holds another six important key off-modal STRs for Rox2, including: 540=13 (12), 717=20 (19), 589=11 (12), 636=11 (12), 532=14 (13), 504=16 (17).


An early key defining STR marker was found to be DYS717=20It 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.

The numerous Rox2 haplotypes are recently related enough to have retained identifiable similarities with other distant relatives in the yDNA database. Rox2 can be recognized by the solid off-modal 'signature' STR pattern - one common to all matches over 111 markers. This relationship can be confirmed with SNP tests.

Less uniform key off-modal markers in the 68-111 panels: DYS712 <=20 (21), DYS714 >=26 (25).

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).


RESEARCH

In order to get maximum information out of Big Y or FGC tests it is important to compare with other results on phylogenetic trees, like the Big Tree (free) or YFull's tree. This not only benefits one's own research, it also advances understanding of the subclade for all its members and also the wider genetic genealogy community. Little can be learned without comparison with the results of others. It takes at least two NGS kits to form a branch on phylogenetic trees. YFull will analyse NGS test results for you and add them to their tree for $49. Full Genomes (FGC) will analyse BAM files for $50.
Make sure you know the subject, your goals and if what you want to know is achievable with DNA genealogy before testing. Do not spend money on something you don't understand.

If inclined, write to your close matches on your FTDNA dashboard 'Matches' page using the email addresses there and let them know about this subclade. Join the FTDNA DF27 and Subclades Project. It's useful 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 (since March 2015) are invisible unless the privacy settings are changed manually by the user. This means that all new testers who do not change their default setting or join the DF27 project (most of them) are unlikely to get analysis and assistance with their results from someone familiar with Rox2. Matches within a subclade like Rox2 span a number of surname projects with origins in different countries. Unfortunately the new default settings have hampered progress. It used to be possible for FTDNA customers to see and compare all results but now only FTDNA project administrators of specific projects have that ability.

If you don't mind sharing STR information with matches that are not in your project: sign in to your FTDNA account and at the top right of your FTDNA 'Dashboard', click your name. Then click 'Privacy Settings' next to the padlock symbol. Next to 'My DNA Results' and 'Who can view my DNA results in group projects?' click 'Make my mtDNA & Y-DNA data public'. It is the generous sharing of results by fellow Rox2 matches that has made it possible to present the information on these pages. If you have a website, a blog or a FTDNA surname project with details about your specific Rox2 family, send me a link. If you don't have a genealogy website or blog, consider creating one so that potential relatives can find you.

If you test positive for FGC11397 etc. outside FTDNA let one of the DF27 project admins know in order for them to move you to the correct group. More matches can be found by uploading STR results to YSearch.org. Check these pages regularly, they're updated often. Further understanding/progress will be made with wider engagement in higher resolution STR and NGS testing and ancient DNA testing in the coming years. As the technology improves, prices should fall. Future archaeological yDNA studies from the Bronze Age, Iron Age and Medieval Period could provide vital clues to the subclade's origins.


RESEARCH HISTORY


The cluster was named 'Rox2' by Jim Turner, who created the YSearch ID: 3QNM8. I (kit N3461 Corner) also tested at that time, in 2005. We found we had fairly closely matching STRs with an off-modal 'signature' pattern, along with a few other kits in the early yDNA databases. The term Rox2 has stuck after initial discussions. It was, and is, a useful shorthand way to describe a subclade currently known by several different equivalent SNPs. Some of those SNPs have multiple but synonymous names due to different labs adding their own nomenclature to the same SNPs.


STR results extant between 2005 and 2012 indicated to some of us that Rox2 was a monophyletic clade but the deep R1b-P312 subclade it descended from (DF27) was unknown at that time. I and other cluster members tested negative for L21 in 2008 and all subsequent SNP discoveries that were made available for testing below P312 also came back negative. Many more STR matches turned up over those years, however. At last, proud Scot, Angus Horatio Stewart, kit 142928, was the first STR cluster match to test positive (derived) for DF27 when that SNP was identified and became available to test in May 2012. Due to chip-based SNP tests being unable to determine the existence of most of DF27, from 2012 until March 2014 'Rox2' remained a R1b-DF27** subclade, i.e. negative for all then known SNPs below DF27. Despite Rox2 matches taking tests like Geno 2.0 and Chromo2, no relevant SNPs below DF27 were identified. However, there were clear indications that many subclades (most of what was later found below ZZ12) were being missed by the chips used for such tests. Even current tests, like LivingDNA, using the Illumina GSA chip, cannot report DF27 either. What a difference three years of subsequent NGS testing have made, though. On the Big Tree, there are now (August 2017) more branches and children below DF27>ZZ12 than any other subclade of R1b-P312.


Independent NGS (Next Generation Sequencing) testing at FGC by Rox2 kits N3036 and 134765 in April 2014 at last revealed the SNP trail back to DF27>ZZ12, finally confirming through SNPs what STR testing had suggested all along. YSEQ was the first company to release a DF27 Panel test in September 2015. FTDNA released a DF27 SNP pack test later that year. The ZZ12 section of DF27 is growing with more extensive NGS testing and analysis on the Big Tree. Good resolution NGS testing is now being used in scientific studies.




C. Corner. November 2017.