DNA Day 2020, celebrated officially on April 25th, is a “big deal” anniversary for genetic genealogy.
In the Beginning – Family Tree DNA
It was 20 years ago that Family Tree DNA was born and began doing business – in collaboration with Dr. Michael Hammer whose lab ran the DNA samples at the University of Arizona.
Bennett Greenspan, a genealogist and entrepreneur teamed up with his business partner, Max Blankfeld, and launched Family Tree DNA, never no idea, of course, what their startup would one day become. That would have required a crystal ball.
Bennett just wanted to solve his own genealogy brick wall and knew that Y DNA had been used to prove, or disprove, a patrilineal genetic relationship between 2 men with the same or similar surnames.
Dr. Hammer, who was weary of calls from genealogists asking for exactly that, said to Bennett, “You know, someone should start a company doing DNA testing for genealogy.” What fateful words those turned out to be.
Family Tree DNA went from being a business run from a cellphone out of the spare bedroom to a multi-national company, now one of four subsidiary businesses under the Gene by Gene umbrella. Gene by Gene owns a 10-story building that includes a world-class genetics lab, the Genomics Research Center, in Houston, Texas.
Never doubt the ability of passion and persistence.
And never, ever, doubt a genealogist.
That First 12-Marker Test
In March 2000, Family Tree DNA began offering the then-revolutionary 12-marker Y DNA test, the genesis of what would progress to 25, then 37, 67, 111 and now the Big Y-700 test. The Big Y-700 offers more 700+ STR markers along with a research-grade SNP test providing testers with the very latest haplogroup information. This level of sophistication and testing wasn’t even dreamed-of 20 years ago. The human genome hadn’t even been fully sequenced, and wouldn’t be until April 2003. DNA Day is celebrated in April to commemorate that event.
That 12-marker Y DNA test was revolutionary, even though it was a but a baby-step by today’s standards. Consumer Y DNA testing had never been done before, and was the first step in a journey I could never have imagined. The butterfly effect in action.
I didn’t know I had embarked when I pushed off from that shore.😊
That journey of 10,000 miles and 20 years had to start someplace.
The Journey Begins
Twenty years ago, I heard a rumor about a company testing the Y chromosome of men for genealogy. Suspecting that it was a scam, I called Family Tree DNA and spoke with Bennett, expecting something quite different than what transpired.
I discovered a genealogist who understood my problem, explained how the technology had solved the same quandary for him, and how Y DNA testing worked for genealogy. Y DNA could help me solve my problem too, even though I didn’t have a Y chromosome. Bennett even offered to help me if I needed assistance.
An hour later, I had ordered five tests for Estes men who I knew would jump at this opportunity to prove they all descended from a common progenitor.
Along with Bennett, and other genealogists with similar quests, I now had permission to dream – and to push the limits.
I Had a Dream
I dreamed that one day I could prove even more.
Where did my Estes ancestors come from?
Did all of the Estes men in the US descend from one line? Were they from the Eastes line in Kent, England? We would discover that both of the Estes immigrant lines, indeed, did hail from the same ancestor in Deal, England.
Were those much-loved and oft-repeated rumors true?
Before arriving as fishermen on coastal England, did the Estes family actually descend from an illegitimate son of the wealthy House of Este, hailing from Padua, Italy?
The family had spent decades chasing rumors and speculating, even visiting Italy. Finally, science would answer those questions – or at least that potential existed. At long last, we had an amazing opportunity!
Bennett explained that surname projects existed in order to group men who shared a common surname, and hopefully a common ancestor too, together. I formed the Estes DNA Project and mailed those fateful DNA kits to 5 of my male Estes cousins who were genealogists and chomping at the bit to answer those questions.
I began educating myself, adding genetics to my genealogical arsenal.
In future years, I would push, or perhaps “encourage” Bennett to expand testing, harder and faster than he sometimes wanted to be pushed.
I had fallen in love with discovery.
Dr. Luigi Luca Cavalli-Sforza
While we were able to confirm that the Estes men descended from a common ancestor in England, we could not find anyone to test from the d’Este line out of Italy.
I knew that Dr. Luigi Luca Cavalli-Sforza, hailed as the father of population genetics, had done a significant amount of testing in Italy where he had begun his career, before retiring from Stanford in 1992. I had read his books – all of them.
Frustrated, I was hopeful that if I contacted Dr. Cavalli-Sforza, he might be able to compare the Estes DNA to Y DNA samples in his lab that he might have from earlier genetics studies.
If Bennett Greenspan could ask Dr. Michael Hammer at the University of Arizona, I could ask Dr. Luigi Cavalli-Sforza. Made perfect sense to me. The worst that could happen was that he might ignore me or say no. But he didn’t.
Dr. Cavalli-Sforza was very kind and engaged in discussion, explaining that no, he did not know of any males descended from the d’Este line, and no, he did not have a representative sample of Y DNA from that region of Italy. He indicated that I needed far more than he had.
We discussed what level of sampling would be required to create a survey of the Y DNA from the region to see if the Estes Y DNA was even of the type that might be found in Italy. If we were incredibly lucky, he opined, we might, just might, find a match.
In his early 80s at the time, Dr. Cavalli-Sforza was interested, engaging and sharp as a tack.
After several back-and-forth emails, we determined that I didn’t have the resources to recruit and fund the research which would have been significantly more expensive than consumer testing at Family Tree DNA. I had hoped for academic funding.
We both wondered aloud how long it would take, if ever, for there to be enough testing to reasonably compare the Estes Y DNA to other males from Italy in a meaningful way. Neither of us anticipated the DNA testing explosion that would follow.
I didn’t appreciate at the time how fortunate I was to be having these discussions with Dr. Cavalli-Sforza – an iconic giant in this field. We all stand upon his shoulders. Luigi was willing to speculate and be proven wrong, a great academic risk, because he understood that push-and-pull process was the only way to refine our knowledge and discover the truth. He will never know how much our conversations inspired and encouraged me to forge ahead into uncharted waters as well.
Dr. Cavalli-Sforza passed away in 2018 at the age of 96. He altered the trajectory of my life, and if you’re reading this, he changed yours too.
The answers didn’t arrive all at once. In fact they dribbled in little by little – but they did arrive – which would never have happened if the necessary people hadn’t tested.
The Italy DNA Project didn’t exist twenty years ago. Looking at the results today, it’s evident that the majority of the results are haplogroups J and E, with a smattering of R.
My Estes cousins’ Y DNA doesn’t match anyone remotely connected with Italy, either utilizing STR markers for genealogical matches nor the Big Y-700 matches for deeper haplogroup matching.
That, combined with the fact that the wealthy illegitimate d’Este son in question “disappeared” into Europe, leaving a gap in time before our poor mariner Estes family emerged in the records in England made it extremely unlikely that there is any shred of truth in that rumor.
However, the d’Este male line does still exist in the European Royal House of Hanover, in the person of Ernst August, Prince of Hanover, Duke of Brunswick-Luneburg, husband of Princess Caroline of Monaco. Ernst is a direct descendant of Albert Azzo I d’Este, born about 970, so there’s actually hope that eventually, we will actually know what the real d’Este Y DNA looks like, assuming no biological break in the line. As of 2017, the Hanover line has not been tested.
While Ernst is in poor health today, he does have two sons to carry on the Y DNA genetic line.
9 Great Ways to Celebrate DNA Day
We have so very much to celebrate today. DNA testing for genealogy has become a juggernaut. Twenty years ago, we had to recruit people of the same surname to test or realize our wait might be forever – that’s not the case today.
Today, upwards of 30 million people have tested – and probably significantly more.
The Big Y test, born two decades ago of that 12 marker test, now scans millions of DNA locations and provides testing and matching in both the genealogical and historical timeframes, as does the mitochondrial full sequence test. In February, The Million Mito Project was launched, a science initiative to rewrite the tree of womankind.
We’ve made incredible, undreamed-of strides. We haven’t just “moved the ball,” we kicked it out of the ballpark and around the world.
Here are some fun and beneficial ways you can celebrate DNA Day!
- If you’ve already tested, or you manage kits for others who have – check your results. You never know what might be waiting for you. Be sure to click on trees, look at locations and do the genealogy work yourself to extend trees back in time if necessary.
- Upload your tree to DNA testing sites to help others connect to your genealogy. If we all upload trees, everyone has a better and more productive experience. If a match doesn’t have a tree, contact them, ask and explain why it’s beneficial.
- Join relevant projects at Family Tree DNA (click myProjects on top of your dashboard page), such as surname projects, haplogroup projects, geographic projects (like Italy), and special interest projects (like American Indian.)
- Purchase a mitochondrial DNA upgrade to the full sequence level for only $79 if you’re already tested at the HVR1 or HVR2 level. Not only does the full sequence test provide you with your full haplogroup and more refined matching, it helps advance science too through The Million Mito Project. Click here to sign in and upgrade by clicking on the shopping cart or the mtFull icon.
- Test your mitochondrial DNA, your mother’s mother’s mother’s direct line for only $139 for the full sequence test. Should I tell you that this test cost $900 when I first ordered mine? $139 is an absolutely amazing price. I wrote step-by-step instructions for how to use your mitochondrial results, here. Click here to order your test.
Today, we have the opportunity to document history in ways never before possible.
Celebrate DNA Day by finding your ancestors!
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