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Rox2 SNPs: R1b-P312>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 off-modal 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. 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 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 lived around 1250 years ago, + or - a generous margin of error. His yDNA descendants are fairly numerous and widespread within the world's population today. Prior to relatively recent emigration to worldwide colonies, Rox2 appears to have had a Northern European geographical distribution, the most southerly match being from Normandy.

DF27

DF27, the deep c. 5000 year old subclade Rox2 descends from, is one of 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. 
However, 'NGS' (Next Generation Sequencing) testing does highlight the downstream SNPs and understanding is improving with the sharing of results on phylogenetic trees. After more extensive post-2014 DF27 NGS testing (using FGC or FTDNA's BigY) and analysis by Alex Williamson, it is now known there are two ancient groups just below DF27. They are ZZ12 and a subclade that had already been known for several years, Z195/Z196.

Rox2 is DF27>ZZ12+. Its ancestral branch below ZZ12 is ZZ19/ZZ20. Below that is Z34609. The Big Tree shows three kits that are positive for this ancient subclade but negative for the currently known SNP below it, Z2571. Those kits are N123269 and 313425 from Spain and E8202 from Czech Republic. At the DF27 FTDNA project there is also another Z34609* kit from Italy, kit 10801. These ancient 'top layer' subclades were in existence at least around 4500-ish years ago according to YFull's age estimates.

'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 (23076115, C>G) A deep DF27 SNP. ISOGG: R1b1a2a1a2a6.


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


FGC11397 (7332619, 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)



TESTING FOR ROX2


The best/simplest yDNA testing approach to clearly identify a Rox2 match is to get a NGS SNP test (eg. BigY or FGC) and then upload those NGS SNP results to a phylogenetic tree (Big Tree, YFull) for analysis outside FTDNA. Anaylsis on the Big Tree is free. Additionally, there are a large number of existing Rox2 STR matches, so an upgrade to the full 111 STR markers is very useful for age estimates and for comparison with others.

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. Progress can only be made if new results are shared, answers come from comparing results with others on phylogenetic trees. There are occasional sales at FTDNA - there is often a sale at Christmas on BigY or STR upgrade tests.


For those more familiar with DNA genealogy, t
he subclade's many SNPs can be tested for individually in a targeted way (e.g. YSEQ) - or a handful can be tested at once in specific DF27 SNP 'packs'.
 See 'SNP 'PACK' TESTS', below. SNP packs are less expensive but less detailed than NGS tests. FTDNA 'backbone' R1b-M343 and R-P312 SNP packs released in 2015 do not include any Rox2 SNPs and should be avoided if you know you match Rox2. A match will only get a DF27+ result from the R1b-M343 pack and a ZZ12+ (and possibly Z2571?) result from the R-P312 pack. 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).

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 BigY 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. This very long SNP 'bottleneck' is an indication of the scale of the founding event around 1250 years ago (+/- a century or two), ie. many branches suddenly appear after about 750 AD.

Underneath the Rox2 shared block there are a smaller number of reliable SNPs for each surname leading to the present day (on average roughly one dozen 'definite' SNPs in BigY - ie. SNPs that are not insertions/deletions or other more complex mutations). Those SNPs have happened in the time between the founder's birth in around 750 AD (+ or -) and the present. 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, BigY might on average identify one definite SNP approximately every 100 years (3-4 generations) for a Rox2 kit.

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 definite 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.

There are two currently known deep subclades of Rox2 - i.e. ones where at least two closely related kits have shared NGS results on phylogenetic trees. SNP branching can then be identified and named. They might be thought of as 'sons' of the Rox2 founder but not necessarily literal sons - the SNP mutation might have happened a generation or two down the line. The remaining Rox2* NGS kits (66501, B24208 and 271969) are yet to discover their deep subclades. Their presence means there are a few more early Rox2 branches still to be named in addition to the two we see at the moment. Those branches will only be found when matches to those existing Rox2* NGS tested kits share their results to the same phylogenetic tree. Not much can be learned without comparison with others on phylogenetic trees, like The Big Tree.

The Big Tree shows the largest currently know deep subclade, FGC11414, as a branch point immediately below Rox2's block of phylogenetically equivalent SNPs. 'Brother' subclade, Y17787/Y17484, is the other one.

Six kits below 'lead' SNP Y17787 (YFull use equivalent Y17484 as lead SNP, Big Tree and FTDNA use Y17787),
B47510, 365749. 342681, 421619, 382774 and N18197, have the same surname variation (McAuley) and BigY results indicate they share six equivalent SNPs after the Rox2 founder's time. That shared SNP block indicates that the kits have common ancestry for a 'bottleneck' period of several hundred years. Then, the present-day families branch off from a common ancestor. One of the six earliest equivalents, Y17787, is in the DF27 Pack but can be tested individually at the FTDNA Y-DNA Haplotree, accessible (when logged in) from one's FTDNA 'myDashboard', for £39 or at YSEQ.net for $17.50.

FGC11414 has several branches below, or 'downstream' of it - they are 'sons' of FGC11414. Three have been identified so far. 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. 28519438 C>T, contains BigY 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
13670159 C>T, 15944592 A>T (recurrent), 22062646 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 presence of FGC11414* indicates more branches will develop here too as new results are added to the trees.

It takes two similar kits to form a new branch and they can only be discovered by inclusion and analysis on a phylogenetic tree. 

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 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 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. The currently known branches are just the tip of the iceberg.

SNP 'PACK' TESTS

These tests are less expensive than BigY/NGS. However, when SNP testing for the first time in the dark (ie. 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 and STRs begin to approach the cost of getting a higher resolution BigY/NGS test in the first place.

Z2571, FGC11397/FGC11369 etc. were discovered and reported here and on DNA fora/message boards in April 2014. Still, some of the important early DF27>ZZ12 SNPs only appear on a separate FTDNA DF27 Pack and even DF27 itself was initially omitted from the 'entry level' or 'backbone' M343 pack of late-2015. DF27 was eventually included. Had it not been included that pack would now be producing undefined P312* results for Rox2 and many other DF27>ZZ12 (Z195-) subclades. If you know you are a high resolution Rox2 STR match there is no need to get the P312 or M343 pack tests. Some of Rox2's SNPs appear in the DF27-specific packs (FTDNA's 'R1b-DF27 Top-Layer and Misc Subclades SNP Pack' or the YSEQ 'DF27 panel').

There are several Rox2 kits (Rox2*) still without defined branching below the subclade's shared block, even after NGS tests
like Y Elite by FullGenomes (FGC) or FTDNA's BigY. Consequently, the more limited DF27 packs may not pick up your particular branch - it could be waiting to be discovered via a higher resolution NGS match with an existing Rox2* kit on a phylogenetic tree.

New SNPs only make it on to FTDNA SNP pack tests if they've been noticed and added by the designer at FTDNA. Several DF27>ZZ12 subclades weren't, or are only just being discovered more recently. There is no guarantee that one's SNPs will be on an existing pack or panel test. The phylogenetic tree below ZZ12 is ever-growing and liable to change as new NGS kits are added to it, so any SNP pack requires regular maintenance from the company selling it to keep it up-to-date. 

NGS tests highlight your own particular family SNPs. NGS results (eg. FGC or BigY) have a big advantage over SNP pack testing in that they 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 adding to further understanding of the subclade. With SNP packs you are relying on the possibility that previously tested lines might match yours.


FTDNA DF27 PROJECT

The FTDNA R1b-DF27 and Subclades Project has two sections for Rox2 matches, F8. and Uf.

Group F8. contains Z34609+ results. Z34609 is an ancient SNP that is immediately upstream of Z2571.

Group F8a1. contains some Rox2 STR matches who have taken NGS tests or SNP tested for one of the equivalent defining SNPs
, like FGC11397 or FGC11369. Group Uf. contains 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.
 

More recent DF27 project members, kits 449235, 501787, B37367, 267927, 465098 and 203123 are currently outside the above mentioned groups. They are scattered around different areas of the DF27 results pages but are Rox2 STR matches and should ideally be togetherMany more Rox2 STR matches exist but have yet to realise it (no 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 the DF27 project.

Kit 10479 (YF06513) is Z34609>Z2571>FGC11380* (positive for FGC11380/Y8841 and negative for FGC11369/FGC11397 Rox2 SNPs) and therefore 
is not a Rox2 match. FGC11380* is parallel with Rox2 and a new 'F8' group is required for this subclade. However, 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 F8b. contains DF27>Z2571>CTS11567 results. Kit B37367 in this group is a Rox2 match and should not be there. Rox2 is CTS11567-.

CTS11567 (also known as Z2572) is an ancient parallel 'brother' subclade to FGC11380, below Z2571. Carrier 46496, France, Mugford 159450, England and Norwood 85133, England are positive for CTS11567/Z2572 but are negative for DF84. Unfortunately, the 2015 'backbone' R1b-M343 SNP pack omitted DF84 (as well as FGC11397 etc.). It has been found that some Z2571>CTS11567 kits are negative for DF84. Therefore DF84 is not equivalent to CTS11567 and is a subclade below, or downstream of, CTS11567 (and equivalents), contrary to what some trees suggest. 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 with two branches (Z2568* and Z2569) springing from it so far.

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 position is 23843638 (G>C).

Anonymous 1000 Genomes kits NA19762 (Mexico) and HG01577 (Peru), who now form the new branch, Z2569, on the YFull tree, with likely origins in Iberia, are said to share currently phylogenetic equivalent SNPs, DF84, Z2568, Z2570, and Z2572/CTS11567.

At the FTDNA DF27 project, kit N119082, Haedo, with origins in Biscay in the north of Spain, is CTS11567+ and tested DF84+ in June 2015. 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.

Two CTS11567 kits,
370005 and 46496, have now uploaded BigY results to the Big Tree. It takes two to form a branch. When more CTS11567+ kits take BigY and submit results to the Big Tree, further branching below CTS11567 will be apparent. With the recent addition of kit 46496 to the Big Tree (November 2016), a deep and ancient subclade just below CTS11567 and parallel with DF84 has formed, named BY3865 (position 14878305 T>C). There are three other equivalent SNPs with BY3865 but they are outside the reliable 'combBED' region. So far, BY3865 looks to have a Northern European distribution and DF84 has a Southern European distribution. The DF84 kits, parallel with BY3865, below CTS11567, are from the 1000 Genomes project. Consequently, there is no TMRCA age estimate at YFull for CTS11567 or DF84.

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.


LATEST NEWS

23rd November, 2016.
With the addition of kit 46496 to the Big Tree, a deep, ancient subclade just below CTS11567, parallel with DF84, has formed. It is BY3865 (position 14878305 T>C).
8th September, 2016, probable ancient DF27 yDNA identified at last. I0806, noted here some time ago (below with links) is a Bell Beaker burial dated to 2296-2206 cal BC at Quedlinburg, in about the middle of what is now known as Germany. His grave contained mixed cultural features, including a Corded Ware shaft-hole axe and a perfect bell beaker.
14th May, 2016. New BigY results for King, kit 10479, just added to Alex Williamson's Big Tree have highlighted a very early branch point in Rox2's long and previously equivalent block of SNPs. Kit 10479 looks positive for FGC11380 (Y8841) and negative for all other SNPs in Rox2's shared block. Rox2 is now a subclade of Z2571>FGC11380 (Y8841) along with at least one other subclade containing kit 10479 King. Edit September 13th, 2016: YFull have added FGC11385  and FGC11384 to make a small phylogenetically equivalent block along with FGC11380 at this branch point. The Big Tree only shows FGC11380 and 22220783 C>T (uncertain region DYZ19). There is no sign of FGC11385 or FGC11384's positions in King's BigY .vfc file. YFull did analysis of the BAM file.

DISTRIBUTION

Going by higher resolution Rox2 STR and SNP matches the subclade has a Northern European distribution and is found in England, Scotland, Northern Ireland, the Republic of Ireland, Isle of Man, Orkney, Sweden and Northern France (Normandy). The locations of most earliest known ancestors' places of birth, when known, can be approximately split into thirds; Scotland (mainly central/south west/Borders), England (mainly north and east) and Ireland (mainly the north). Recently, more matches are turning up in Southern England and Sweden. 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. Online 'heat maps' made to represent DF27 distribution across Europe use old incomplete DF27 data (a few downstream subclades) from limited areas and are inaccurate. The majority of present-day yDNA testers are based in America and most hobbyist DNA results are from descendants of people who emigrated from the British Isles and Ireland to North America and now live there. Similarly, South America has a high proportion of people of Iberian origin. Emigration patterns to the Americas were not the same across the whole of Europe and parts of rural eastern England, Wales and especially Continental Europe are lightly represented in the hobbyist databases in comparison with Ireland and Scotland. Only a very small number of British Isles/Ireland Rox2 matches were born there. I am from England and the Sweden Rox2 cluster are Swedish nationals.

The incongruous characteristics of the subclade, combined with its estimated age and distribution might suggest a founding event/s following migration in Northern Europe. TMRCA estimates, bearing in mind the generous margin of error, indicate this could have taken place there some time between the Migration Period (300- 500 AD) and the Norman Conquest at the end of the eleventh century - so probably some time in the Early Medieval period. The earlier Migration Period and the later Norman Conquest in England bookend the Viking expansion across Northern Europe. 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(s?) appears to have been active 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 some advantageous family circumstances, offspring of the Rox2 founder appear to have flourished in Early Medieval society. Subclades downstream of Rox2 could be the result of an Early Medieval Period dynastic founding event.


2014 NGS testing at last identified the invisible (to commercial testing) block of SNPs below DF27, ie. ones relevant for the large number of existing DF27* Rox2 matches. After further extensive NGS testing by many more people, that large 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 happen with a reduction in the population and/or a long period of no growth (small family), or from a migration from an original homeland, followed by a founding event elsewhere. Sudden and significant founding events and demographic expansions seem to have taken place. It is possible that older and geographically/geneologically 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 from generation to generation (one male per generation) and remaining 'bottlenecked' for around three and a half thousand years must be quite slim. However, population numbers were comparatively low 1000+ years ago, so lines from that time might well have gone extinct in their original place of origin.


This apparent rarity/incongruity contrasts with subclades downstream of L21>DF13 who do know, and are surrounded by, many of their anciently related 'cousin' branches in the British Isles and Ireland. Rox2's shared equivalent SNP block (ie. the few-thousand-year-bottleneck) appears to stretch from the earliest times of DF27 to about the eighth century AD, with no branching. 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. No ancient L21 has been found outside the British Isles and Ireland so far and no ancient DF27 has been found inside the British Isles or Ireland yet, although ancient yDNA testing is not yet very extensive. However, U152 and even difficult-to-test DF27, have been found in ancient Continental European Bell Beaker/Corded Ware-derived archaeological contexts. Those two P312 subclades are also much more frequent in Continental Europe than L21. The only ancient DF27 identified to date is from the Bronze Age in what is now Germany ( 2296-2206 calBCE) and is associated with Bell Beaker and Corded Ware grave goods. Autosomal DNA suggests his ancestry was from the east (Steppe), not the west of Europe (Iberia). The birth of this Bronze Age Central European DF27 Beaker man roughly coincides with the start of Rox2's millennia-long bottleneck.


The above, along with age and geographical distribution, could be indicative of relatively recent Rox2 founder/s having entered Britain/Ireland from elsewhere, ie. probably from Continental Europe. Future comprehensive ancient yDNA testing will be important to shed light on the puzzle.


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 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 suggests 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 point in time around 1250 years ago (+/- a margin of error). 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 very old families in their country too and trace back to the beginning of parish records there, in the sixteenth century, in and around Bureå, Skellefteå and 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.

As no early branches have turned up yet between ancient Z2571>FGC11380 and the Early Medieval Rox2 subclade founder, 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 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 inexpensive chip-based SNP testing technology used for such studies to 'see' DF27. Even studies using NGS technology struggle with DF27 if there are no known downstream SNPs present.

Interestingly, a Bell Beaker/Corded Ware burial (I0806 from Quedlinburg, Germany) was found to be P312+ and dated to 2296-2206 calBCE. Unfortunately they were unable to get a read for any downstream subclades at the time. (Edit Sept, 2016: it is likely I0806 is DF27+). The results were initially interpreted as being P312* but after closer inspection DF27 SNPs have eventually been noticed). I0806's grave contained mixed cultural features, including a Corded Ware shaft-hole axe and a perfect bell beaker. (

link) (link2) (link3) (link4)


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). It is not unusual for a haplotype to occasionally differ on a few of the Rox2 ancestral key off-modal signature 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 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.


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.



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 BigY or FGC tests it is important to compare with other results on phylogenetic trees, like the Big Tree (free) or YFull's tree. It takes at least two similarly matching kits to form a branch on such trees. To share NGS 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 The Big Tree for free 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.


Join the FTDNA DF27 and Subclades Project. It's good 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. Matches within a subclade like Rox2 span a number of surname projects with origins in different countries. If you test positive for FGC11397 etc. 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 engagement in higher resolution STR and NGS testing by the many Rox2 matches who have only 67 STRs, or less, and no SNP tests. Results need to be compared to those of others. Future ancient yDNA studies should provide vital clues to the subclade's origins. DNA genealogy tests are expensive and interpretation is complex. Solid conclusions are rarely possible but could be arrived at in the future with luck and more research.

RESEARCH HISTORY


The cluster was named 'Rox2' around ten years ago by Jim Turner, who created the YSearch ID: 3QNM8. I (kit N3461 Corner) first tested around that time, in 2005. Jim and I found we had fairly closely matching STRs with an off-modal 'signature' pattern, along with a few other kits in the early 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 'lead' SNPs. Some of those SNPs have multiple but synonymous names. Rox2 is a simpler 'handle'.


STR results extant between 2005 and 2012 indicated Rox2 was a monophyletic clade but the deep R1b-P312 subclade it descended from (DF27) was unknown at that time. We tested negative for L21 in 2008 and all subsequent SNP tests then available below P312 also came back negative. Many more STR matches turned up over those years, however. 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. From 2012 until March 2014 'Rox2' remained a R1b-DF27** yDNA subclade, ie. negative for all then known SNPs below DF27, although there were clear indications that many subclades (most of what was later found below ZZ12) were being missed. Chip-based testing from FTDNA's Geno 2.0 and BritainsDNA's Chromo2 identified no relevant SNPs below DF27. A very large section of DF27>ZZ12, not just Rox2, remained unidentified after taking those chip-based tests. Geno 2.0 does not read P312 or DF27. Independent NGS (Next Generation Sequencing) testing by Rox2 kits N3036 and 134765 in April 2014 revealed the SNP trail back to DF27>ZZ12, finally confirming 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 pack test later that year. The ZZ12 section of DF27 is now growing in and is catching up with the other P312 subclades at last, although DF27 not well covered by academic studies of ancient yDNA because of issues the technology has seeing DF27.




C. Corner. November 2016.