The use of DNA "Y" chromosome analysis for verification of descent is not meant to replace traditional paper genealogical research but to supplement the results with scientific verification. DNA surname projects are not designed to tell you who your ancestors were. That is not possible. What a well designed project can do for you is:
- Tell you what lines you CANNOT be descended from.
- Verify hypothesized lines of descent ARE possible.
- Pinpoint possible misconnections made by earlier researchers.
Back in 2002 we began the Waite Genealogy DNA Surname Project. This project was originally begun to define the ancestral DNA signature of the various American Wait(e) branches. AND...we've been successful in this endeavor. The ancestral haplotype of each of the four primary immigrant ancestors, Richard of Watertown, Thomas of Portsmouth, John of Malden, and Richard and Gamaliel of Boston have been defined. This is a good thing! We are now in a position to help direct new DNA project participants to the line on which they should concentrate their research efforts.
But, in the process we've discovered several possible anomalies in the widely accepted lines of descent from Thomas of Portsmouth and his relatives Richard and Gamaliel of Boston. We've also found several lines that cannot yet be placed into one of the main groups.
Problems & Goals
So...we need to do more testing...lots more testing. AND...that is expensive. Many of the men we need to test are on limited or fixed incomes and they cannot afford to pay for their testing. Unlike many well funded DNA projects, the principles of WGRF are not able to pay for the test kits needed. We need to raise funds needed to...
- Test a line from each of the know sons of the identified 17th century Wait(e) immigrants in order to refine our knowledge of their genetic signatures.
- Test a line from each of the known sons of the early, unconnected Wait(e) lines in order to identify the general family to which they belong.
- Aid and assist all persons, surnamed Wait(e), to find and recognize their ancestral roots.
- And, in cases where the proposed test subject cannot afford the testing on their own, to supplement the cost of their testing.
- 66 test kits have been ordered. 58 test kits have been returned and results for 57 have been are posted.
- An additional matching "Waite" signatures have been found in the SMGF database.
- Members of the Downing, Jordan, Milleman, and Long families have been found to share signatures of documented Waite descendants.
- We have identified two cases of NPE events within the Waite family and are working to determine the genetic line to which they belong.
- Signatures of the TOP, SOB, RGOB, and ROW lines have been identified.
- Signatures for three distinct Southern lines have been identified.
- The line of John and Mary Stockwell Waite has been identified as belonging to the line of Richard of Watertown.
- 4 previously lost lines have been identified as belonging to the line of Thomas of Portsmouth. New research is being undertaken in the lines of 2 TOP descendants based on their DNA signatures which suggests that although each is a TOP descendant...the lines of descent cannot be what has been previously believed.
- Recently received lab results indicate that Thomas and Richard and Gamaliel of Boston WERE related. We can verify this hypothesis once and for all by testing one more PROVEN descendant of RGOB. Do you know someone who can help?
How You Can Help
There are many ways that you can help with the WGRF DNA Reconstruction Project. I can't begin to impress on you how important this project is. When there are no men left in a direct patrilineal line from a specific ancestor...there will never be an opportunity to preserve their genetic signature...and therefore the signature of their ancestors. Don't let this happen! Please participate by...
- Ordering a DNA test kit for a direct male descendant of your Wait(e) ancestor.
- OR making a contribution (no amount is too small) to the DNA Project General Fund.
Results Chart you will notice that many of our testers have upgraded to 111-markers. This is particularly important in lines such as TOP where the remarkably stable genetic signatures remain stable up to 37-markers and even to 67-markers before showing enough diversity to break the lines into groups.
In addition, this extended testing is starting to hi-lite the possibility of errors in published secondary sources used by many of you to complete your lines. Some of the readily accepted lines of descent from Thomas and his purported brothers appear to be genetically suspect.
Phylogenetic Diagram General Analysis
Analysis of DNA test results for genealogical purposes is in its infancy. It is based on the assumption that the number of nucleotides (Adenine Thymine Cytosine Guanine) differing in 2 individuals increases on average in relation to the temporal distance from their last common ancestor. Or, the closer the match - the more recently related two individuals are likely to be. Before I begin to make an initial analysis on the Waite family results - I'd like to give a few basic definitions.
STRs, Short Tandem Repeats, are the type of markers used by genealogical testing facilities. The mutation rates of this type of marker allow genealogists to work with family lineages on a time scale measured in centuries.
UEP markers are used by population geneticists who are tracing the movements of people over thousands of years. UEPs, Unique Event Polymorphisms, have a slower mutation rate which is valuable to this group of scientists.
Haplogroups are defined by results on various DNA tests and are further broken down into various haplotypes characterized by different combinations of polymorphisms. The tests are performed on non-coding regions of DNA. If interested, you might want to compare the values of your personal DNA test to the European Y-STR database or the smaller United States Y-STR database. According to the Y-STR database, "an extremely informative Y-STR core set or minimal haplotype...has recently been recommended for court use. The markers used are DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385I/II (Pascali et al. 1998, Coordinating Y-chromosomal STR research for the courts. International Journal Legal Medicine 112, 1)."
A Repeat of What?
I've been told that there still is some confusion about what we're actually doing with this DNA study - "I still don't get it", is a common complaint. So, being a visual person myself, I'm going to try a different explanation. Please let me know if this helps. Much of the following explanation comes from "Recent Developments in Y-STR and Y-SNP Analysis" by J.M. Butler, Forensic Science Review Vol. 15 No. 2, July 2003 as reprinted on the FTDNA site.
What Is A STR Marker?
The formal definition is given above - but, what IS a Y-STR marker? A marker is a specific motif - or pattern - of the nucleotides Adenine, Thymine, Cytosine, Guanine which are the basic components of DNA. The pattern TAGA (thymine, adenine, guanine, adenine) is named DYS19. Think of it this way...we all know that the crystalline patterns of snowflakes are unique. Now, let's assume that we gave a specific and unique name to each different snowflake pattern.
Thinking of the name "Feather" would connote one crystalline pattern while the name "Spike" would bring to mind a totally different pattern. This is all that the DYS labels are doing. They are are nothing more than names for certain patterns of nucleotides that are common to all "Y" chromosomes and which appear at the same location on all "Y" chromosomes.
But What's Repeating? What Are We Counting?
OK, so, DYS numbers are nothing more than names for specific nucleotide patterns. Other commonly used motifs in "Y" chromosome testing are DYS426 GTT and DYS437 TCTA. In all, the testing we are having done looks at 25 of the individual motifs found on the "Y" chromosome.
The next thing we need to realize is that each of these motifs - or patterns of nucleotides - appears at a specific location on the "Y" chromosome. The diagram at the right is a simplified version of the diagram that appears in Butler's paper. I have not marked the locations of all of the DYS markers, but only enough to give you the visual idea that each appears at a specific site on the chromosome. It is important that geneticists know where they need to look on the chromosome for the motif for a specific marker.
The next question I'm sure you're asking is, if each "Y" chromosome has these specific motifs and they appear at the same location on each "Y" chromosome, how is this helpful to distinguish one male line from another? Wouldn't each man's signature be the same?
The answer to that question is NO!
We all know that during the replication process, the "Y" chromosome makes an "exact" copy of itself - well, most of the time. Very occasionally, about once every 500 transmission events, the replication stutters. In essence the chromosome gets confused and makes extra or fewer copies of a specific marker. Over the thousands of years that our human race and our ancient ancestors have been reproducing, millions of transmission events have occurred. Each transmission event is an opportunity for the "Y" chromosome to reproduce itself exactly - or to get confused and to make an error in the process. When an error occurs, it is carried forward forever - or until the next stutter shows up. It is the errors in replication - the mutations - that allow us to distinguish one man's descendants from another's.
IMAGINE this. Your boss tells you to make 15 copies of a memo to hand out to department heads for distribution. You trot on over to the photocopier and start making copies - but, after making 14, the toner runs out. Since you're in a BIG hurry, you don't waste time changing the toner and open up the file on your computer instead. Before you hit the print key you accidentally hit the back slash and now one of your copies has an extra back slash that the other 14 do not have. When the managers begin copying and distributing the memos, they'll all be identical - EXCEPT for the ones made from the "mutated" copy. Forever more, memos with this slash will be traced back to the original where the slash first appeared.
So, to recap, "Y" DNA testing is a means whereby the testing lab analyses the "Y" chromosome looking for specific MOTIFS that appear at common locations on the "Y" chromosome. Over the years, STUTTERING during the replication process has caused these motifs to be repeated differing numbers of times. Each time a stutter occurs it is faithfully copied until the next mutation. These mutations or changes, serve to mark the splitting off of specific family groups. AND, finally, since the "Y" chromosome is passed from father to son - as are surnames - we are able to match the number of repetitions of each motif found on a man's "Y" chromosome to other men with the same surname who carry the same numbers of repetitions.
Specific Analysis of Our Results
We have been very, very lucky to have identified the DNA signatures of all four of the 17th century immigrant lines to New England after only a few years of testing! Now, anyone coming in with the signatures of Thomas of Portsmouth, his relatives Richard & Gamaliel of Boston, John of Malden, or Richard of Watertown can either prove their "relatedness" to these men, or, if from an unconnected line...one where the paper trail has not been found...can refine their search and only work on families descended from probable lineage as suggested by the DNA testing process.
We still need more tests completed though in order to determine the ancestral haplotypes or patterns of motif repetitions for each of these progenitors. We've identified the overall haplotype signatures...but cannot be sure of the exact signature each of the progenitors had. While we can never be sure without testing their personal DNA...we can come very close to approximating with enough samples. For instance, we need to figure out what the DNA signatures of Thomas of Portsmouth and his purported brothers, Richard & Gamaliel of Boston may have been. This gives us a baseline against which we can compare all other results. While it is easy to see in the DYS chart above what the DNA signature of this group is, we still do not know which pattern either of the immigrants possessed. In order to confirm the signatures we need to test descendants of Jeremiah - son of TOP, Reuben - son of TOP, and Thomas - son of TOP.
Determining the Ancestral Haplotype
Proving or disproving traditional genealogies with DNA testing relies on the ability to determine the original ancestral haplotype of the progenitor of the line. A 25/25, 24/25, 23/25 match between two men's DNA signatures "proves" relatedness - but does nothing to prove HOW they are related. The following are a few "rules" we need to keep in mind when analyzing results. The term rule here is used very loosely to mean an event that is statistically more probable based on current knowledge.
- Mutations in the "y" chromosome usually involve an extra copy of a STR. However, it does sometimes happen that a repeat is lost resulting in a backwards mutation. Gaining a repeat of a particular motif is MORE LIKELY than losing a repeat of a motif.
- The chance of exactly the same mutation occurring in parallel lines of descent in exactly the same marker is NOT LIKELY.
- Some markers have a higher likelihood of mutation than do others. Some, like DYS454, RARELY change or stutter. Others, like the DYS464s, have a tendency to frequently stutter. This mix of fast and slow changing markers allows us to identify different branches of the same family.
We're Changing Widely Held Beliefs
If we assume that no non-paternity events have occurred in any of the lines so far tested, we are forced to make some startling conclusions. These conclusions, if proven with further testing, will require us to re-write most of what we believe about the English origins of the Wait/Waite families. For instance, based on the testing done so far we must conclude that Thomas of Portsmouth and Richard of Watertown WERE NOT cousins and that all Waytes DO NOT trace their lineage to Ralf de Waiet who received the Earldom, City and Castle of Norwich from William the Conqueror.
Where Do We Go From Here?
I think that we've now established the effectiveness of DNA analysis as a tool to aid in conventional genealogical research. From my own personal standpoint, my dad's results were a real validation and incentive to continue to look for his line. After twenty-seven years of research, I'd about come to the conclusion that he might not have been a Waite at all. Now I know for sure that I'm researching the right family line. I have two other researchers with whom I can work towards a common goal, although it would be much easier for our little group if we knew what families we do not need to work on. For this reason, we need your help. DNA analysis works. But, for our project to be successful, we need verified signatures of each of the primary immigrant Wait(e) ancestors. We cannot do this alone. We need more people to participate in this study - and, these people need to have verified lines of descent.
...I look into this mirror and see a thousand mirrors behind me: My mother's face, between bright curtains, watches the damp garden. My father sits under a lamp with his eyes closed."
Elmaz Abi-Nader | New Year's Morning | The Poetry of Arab Women