BORDER REIVERS "DYS393=12" Y-DNA STUDY:

Background of Border Reivers "DYS393=12" Y-DNA Study:

First, I consider myself a layman in this field. I'm a retired lawyer, not a geneticist. I have enjoyed the new evidence provided by DNA testing in resolving some of the genealogical questions common to all of us. However, I have developed some questions relating to the "deep roots" of those rare individuals, including myself, who have DYS393=12, and are classified R1b. Bennett Greenspan informs me that of the 19,000 participants in the FTDNA database, those who are {[DYS389ii=29, minus D:YS389i=13]=16} and who also are DYS393=12 represent less than 3/10s of 1%. That is an extremely small proportion. Some of the questions are:

1) Given that DYS393 apparently has an extremely low mutation rate, WHY do the DYS393=12 participants seem to exhibit some characteristics atypical of the general population of west European ancestry? Such as some indication that some of them belong to Blood Group B... which is of ASIAN origin. Such as appearing to be rooted in Ulster and along the Anglo-Scottish Border, rather than eastern Europe or western Asia. Are they in fact not properly classified as R1b?

2) FTDNA has classified us as R1b. Some scientific literature exists (cited below), indicating we may be part of a distinguishable sub-group, or sub-clade, of R1b, eg., R1b3* or possibly R1b4. Can we gather enough interest among researchers that they will spend the effort to develop the SNP testing facilities to do the necessary refined testing to establish whether we are indeed members one or the other of these subclades?

3) IF we are members of R1b3* or R1b4, which appear to be of West Asian origin, HOW did these populations get to the Anglo-Scottish Border area? Can we show deep roots in identifiable ethnic groups among the Legions of Rome, the Vikings, or pre-Normans resident in France prior to the Conquest? Each of these groups have had some influence on the populations of the Borders area.

The study has developed from a review of certain findings posted on the internet by various Genealogy DNA Researchers regarding the results garnered by their respective DNA Studies. Several DNA Studies have included results for certain participants which have included an allele or marker value of DYS 393=12. The results have usually been identified by the testing laboratories as belonging to YCC Haplogroup R1b, which was part of what was formerly referred to as Haplogroup 1 (HG-1). [Haplogroup 1 included the six marker values which comprised the AMH. Haplogroup HG-1 was part of an older classification system, and now has been superceded by a New Haplogroup System developed by the Y Chromosome Consortium (YCC).]

The usual value for DYS393 for members of HG-1, R1b, and/or the AMH, is 13. Thus, a finding of DYS393=12 in the R1b haplogroup is anomalous. On the other hand, YCC Haplogroup J-2 usually includes DYS393=12. Contrarily, the usual "modal" marker values for Haplogroup J-2, other than those for DYS393, do not match the usual modal values for Haplogroup R1b. Further, DYS393 is an extremely stable marker. Statistical studies have indicated a very low frequency for DYS393=12 amongst largely European populations, thus implying a low mutation rate, for the DYS393 marker. The issue presented for many participants in the various DNA Surname Studies who have DYS393=12 and who are classified as YCC Haplogroup R1b is "Why are they classified as R1b when they have a relatively distinctive allele of DYS393? Further, does a DYS393=12 allele indicate something unusual about their origins? The distinctive DYS393=12 value, in combination with a pattern of similar values for the other markers under study by the various DNA research laboratories, seems to turn up for families with no apparent genealogical relationship. The linked chart collecting Border and other Families DNA Results Including DYS393=12 illustrates this point. Is there a "deep roots" explanation for the similarity of their individual haplotypes?

Anecdotally, some members of the Border-Families group have reported having Blood Group B. One's blood group is not a function of the Y-Chromosome studied in the various Y-DNA Surname Studies. Rather, it is a function of the ABO gene found on Chromosome 9 in the human genome. However, it is possible that the two genes can "travel" in the same population group for a time. Blood Group B is heritable... but it tends to dilute out over time as it is mixed with other population groups through intermarriage. In an "endogamous" community, that is, one in which families are intermarried over numerous generations, the Blood Group factor can remain consistent for an extended time. This may explain why Blood Group B shows up in a surname group such as the Donegal Bay Strongs... the family group was endogamous in the Donegal Bay region for over 200 years (~1660-1900). Now that these Strongs have emigrated around the world, Blood Group B appears to be diluting out of the family group through intermarriage. See: Study Note on Blood Groups .

The anecdotal evidence regarding Blood Group B is perhaps a clue to issues underlying the present study. Blood Group B is prevalent in Asia. It appears in Western Europe only in small proportions, and in Scotland at a rate of about 12%. The Scottish 12% is, however, larger than that shown for the United Kingdom (8%) in general. WHY? Typically Asiatic features like Blood group B may have become associated with a certain Haplotype 35, aka subclade M269; and possibly with other subclades, such as M65 or M73, and seem to occur frequently but not always in association with the Y-chromosome results found amongst the Reiver clans. Please read on... perhaps we have a hypothesis explaining this phenomenon.

Recent DNA evidence has identified a certain DNA haplotype described by Genetic Researchers Cinnioglu & Underhill, et al, as "ht 35 of the complex 49a,b TaqI RFLP locus" of R1b, which is part of subclade R1b3 of Haplogroup R1b. Ht35 is usually associated with western Asia. According to Dennis Garvey, at:
Y Haplogroup R1b3

"R1b3 is the most common Y haplogroup among men of European descent. Fourteen of the 30 most common haplotypes in the YSTR.org database are typical of R1b3. (Those haplotypes can be seen here). While several R1b3 sub-haplogroups have been identified, it turns out that they are only seen among very small percentages of R1b3's. The majority of men in this haplogroup belong to none of these sub-haplogroups and are therefore most properly classified as belonging to R1b3*. (More information about R1b3 sub-groups is available here). However the R1b3*s can be divided into two large identifiable groups by the results of a RFLP test of the 49a,f Taq/I locus. The R1b3*'s in Western Europe mostly have 49a,f Taq/I results that are categorized as "haplotype 15" (ht15). The R1b3*'s seen in Turkey, and Iraq have a different 49a,f Taq/I haplotype known as ht35. Al-Zahery et al in their paper on Iraq theorize that ht35 is actually the ancestral haplotype for R1b3*s. Cinnioglu et al speculate that the ht35 R1b3*s may have spent the Last Glacial Maximum in an Asia Minor refugium while the ht15 R1b3*s were in an Iberian refugium.

The allele frequency graphs below show that the STRs for the two 49a,f Taq/I haplotypes are nearly identical. The main differences are the alleles at DYS393 and DYS461. Considering that these two lines of R1b3*s have been separated for more than 15,000 years it is remarkable how little drift has occurred between their modal haplotypes."

"It looks like DYS393=12 may indicate an R1b3 man descended from an eastern branch (Turkey, Armenia, Iraq) of that haplogroup, and that DYS393=13 seen in R1b3 men descended from the western European branch.

The data in Cinnioglu's paper also made it look like there was a similar difference at DYS461. They saw DYS461=9 in the eastern branch and DYS461=10 in the western branch. However there may be a difference in how the authors are reporting the STR repeats from the convention used by the genetic genealogy testing labs. I think that in our test results the eastern branch may be DYS461=10, and the western branch is DYS461=11.

Subject: Re: Y Haplogroups R1b3 and R1b4

First of all I think that there is some nomenclature confusion. The R1b3 referred to on this webpage:

Y Haplogroup R1b3
[is] defined by the marker M269 and is basically the same as the group called R1b in the 2002 YCC nomenclature (though marker M269 had not been discovered at the time the 2002 nomenclature was put together). So whenever somebody on the [Genealogy-DNA] list writes "R1b" they mean "in the 2002 nomenclature" - which means the same as R1b3 in the 2003 nomenclature.

The R1b3 (and R1b4) referred to on this page:
GENEALOGY-DNA-L Archives
are named according to the YCC 2002 nomenclature. They are defined by M65 and M73 respectively. Both are seen occasionally - but they are rare enough that it is likely that FTDNA has never tested one of either of them. They are different than both the western R1b3 (DYS393=13) and eastern R1b3 (DYS393=12) talked about on the previous page. (R1b in 2002 nomclature, but R1b3 in 2003 nomeclature). I expect that FTDNA probably has tested examples of both of those kinds. You and the others with DYS393=12 could be eastern branch R1b (R1b in the 2002 nomenclature, eastern branch R1b3 in 2003 nomenclature). I think it is unlikely that you have M65 or M73.

Thus, we see that R1b3 has been tentatively divided into two groups - one with a modal DYS393 value of 13 (Haplotype 15), and the other with a modal DYS393 value of 12 (Haplotype 35). Ht 15 is the standard AMH and reflects descent from the Paleolithic Europeans who took refuge from the Ice Age in Iberia, while Ht 35 may be descended from a related Paleolithic population that took refuge in the Balkans. After the Ice Age ended, this second group spread outward into Southeastern Europe, Anatolia and the Black Sea region.

The questions then become "How did R1b3 (aka subclade M269 and Ht 35), and/or R1b3 (aka subclade M65) or R1b4 (aka subclade M73) come to exist in what may be relatively high proportions along the Anglo-Scottish Border"? Possible vectors include:
1) the 5,500 Sarmatian troops stationed in Cumbria and Lancashire during the Roman period. These troops were armored cavalry, eventually settled in Northwest England, and were presumably assimilated by the native populace. Some scholars have speculated that the King Arthur legend sprang from tales of the Sarmatian cavalrymen and one of their leaders, Lucius Artorius Castus. The Sarmatians - like the Alani, who colonized parts of France and Spain - were an Indo-Iranic or Turkic tribe originally from the Caucasus, and some of their direct descendants still live in the Caucasus under the name Ossetians.
Other possible vectors include:
2) Norman families that were originally of Scandinavian, Burgundian, Alsatian or Visigothic descent, and
3) Norwegian Viking settlement of the areas bordering the Irish Sea.

Our study is growing somewhat "like Topsy"... at different times with spurts in different directions. I first started asking these questions when I learned I was DYS393=12... at first privately, then on the Genealogy-DNA list, and later directly to certain individuals with some knowledge of the subject... Bennett Greenspan, Dennis Garvey, Bonnie Schrack, Dr. David Roper. Gradually, a hypothesis is taking shape which should be obvious from what I have previously indicated: Some of us have roots in a West Asian population in an identifiable subclade of R1b, which somehow got to the Anglo-Scottish border area and on to Ulster. There are other surname groups and populations which share some of the same DNA characteristics; can we learn more about each other's origins by sharing information? This question and the Hypothesis are beyond the realm of traditional genealogy, but raise legitimate issues none-the-less. We are hoping you and your surname group will be interested in helping us persue the answers. Click here for more Discussion of the Hypothesis:

We hope the present study will provide information which will help answer these and other questions re the possible origins of R1b3 (aka subclade M269 and Ht 35), and/or R1b3 (aka subclade M65) or R1b4 (aka subclade M73) along the Anglo-Scottish Border. Bennett Greenspan has indicated refined SNP testing is coming for these subclades in late 2004. See Response to Special Request from Bennett Greenspan, President of Family Tree DNA (FTDNA). For now, we need to collect Y-DNA data from families with DYS393=12 and/or who have origins along the Anglo-Scottish Borders. Perhaps this study can help move that facility along. Bennett at least knows of our interest, and busy as he is, has been quite cooperative in providing information.

If you are DYS393=12 and R1b, please share your exact haplotypes with us, in a form which can be added to the chart posted at: http://freepages.genealogy.rootsweb.com/~donegalstrongs/border_families.htm We wish to relate the information back to the DNA studies which produced the results. That is, we give credit to each study and respect their interests in their own data. We have no desire to compromise any aspect of their use for traditional genealogical purposes, and no desire to violate anyone's right to privacy. We are hoping to cooperate with you and to be of possible help to you in developing the answers to the questions posed above, to the extent they are of interest to you.

We need enough information to validate the study... traceable kit #'s and their source. Individual haplotypes which can be examined for correlation with the information available from other participants with the typical DYS393=12 allele. This is important so that we can't be challenged on the basic facts. We need info on Migration Patterns, to the extent known. We need to know if there is any record of Blood Group B in your group's family history. We need to share any insights about the deep root origins of the various families involved in the study. We are not familiar with everyone's surname history... do you know whether it originates in the Border region previously mentioned? If not, where?

You are invited to join this study:
If you have already been Y-DNA tested and have DYS393=12 or DYS461=10, please contact Dave Strong and/or Jim Elliott with details.
If you have not yet been Y-DNA tested you are encouraged to join an existing surname study, provided one has already been started for your surname.
If, however, there is no existing surname study, you are invited to click on this link to the Elliott & Border Reiver Families DNA Study to participate.

In the final analysis, our Hypothesis that many of the Border Reiver clans descend from members of the Sarmatian Calvary stationed along the Roman Wall will have to sustain the rigor of better, "finer", SNP testing. Perhaps only then will we be able to prove the hypothesis. In the meantime, we hope to keep gathering data and to increase the level of interest in this area of DNA study. We welcome any additions, corrections, and suggestions for improvement of our discussion.

Go To the: Armstrong, Elliott and other Border Reiver Surnames Y-DNA Study:
This patrilineal Y-DNA surname study is designed to test the Y-DNA profiles of members of the various Border Reiver families found along the Anglo-Scottish Border, including descendants of "transplants" to Ulster, the United States, Canada, Australia, and around the world. The focus of the Armstrong, Elliott, & Border Reivers study includes families listed on the surname list of the Border Reivers website . [Note, many of the same "Border Reiver" surnames appear both in the Donegal Bay area and in the Anglo-Scottish Border Region]. If your name is on these lists, we are most interested in having you participate in our Y-DNA male surname testing program. Administrator: James V. Elliott.

See Also: Matrilineal Mitochondrial DNA (mtDNA) Study:
This study examines the "extremely deep roots" of women and men, as traced through their mothers, matrilineally through many generations, potentially over thousands of years, based on the concepts developed by Professor Brian Sykes, author of "The Seven Daughters of Eve". Administrator: Debby Peare.