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Can DNA tell me my mutt’s ancestral breeds?

She used to scramble up my car to try and prevent me from leaving

My lovely dog Kyndra is NOT a labrador retriever! I was so sure she was some sort of lab/border collie mix. She is very loving, playful, smart, and even likes to swim. I can no longer let her off leash on the local river trail because there is a hole in the fence to the golf course and twice she has treated the water hazard there as her very own swimming hole! How can she not be a lab?

Smaller than a lab at 52 pounds but about the size of a border collie with the short glossy black hair of a lab, the face shape of a collie, and the flag-like upcurling tail of a shepherd. Her eyes are so dark that they look black.

Searching online, I find many sites which discuss the lab/border collie mix. I think this “borador” description is a very accurate description of her personality: http://www.spockthedog.com/mixed/borador/ plus the pictures of boradors look just like her with just a bit more hair. “Most often the body of a Borador has the build of the Collie and the colors of a Retriever,” as that site says and as she does to my eyes.

The DNA results from Kyndra’s Wisdom Panel Test

The idea of DNA testing your mutt is to know what breeds she is descended from. That way you know what health issues to watch out for. To be honest, it was really just to satisfy my curiosity. My husband did not see why we should do this, so I put the Wisdom Panel 3.0 Breed Identification DNA Test Kit on my Amazon wish list and I was delighted when a grateful reader got it for me! Thank you Pauline!

Lounging on the couch, you can see her few white patches: feet, chest, privates

However DNA results show no lab at all! At least they include 25% border collie. The other breeds are hard to see in her. German Shepard tail? Bulldog body shape? Rottweiler eyes? Hair growing backwards on her spine from the Airedale? Maybe the answer is that she is just so many generations from any known breeds that it is hard to be accurate. She is a rehome from Jamul (not far from the Mexican border) born to the neighbor’s black dog, father unknown.

Or perhaps the breed composition has the same basic built in inaccuracies as the DNA ethnicity tests for people: just not a big enough database to draw from yet.

I found some wonderful sites which explain the genetics of canine looks:
One in plain English: http://www.doggenetics.co.uk/black.htm
based on the work here: http://homepage.usask.ca/~schmutz/dogcolors.html
Sadly the wisdom panel results do not include a download of the raw data.

I decided to research the history of dog breeds some more.

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MTHFR – hype or a problem?

There have been so many claims in the alternate medicine arena about health problems caused by variations in the MTHFR gene that I was not surprised to get this request from a favorite cousin:

Could you please check to see if there is information in my Ancestry test that tells you whether I have a bad version of the MTHFR gene?

Like many genes, the MTHFR is made up of a long DNA chain including many SNPs (Single-nucleotide polymorphisms), pronounced “snip.” SNPs are places where a single letter in the DNA code often changes to another letter. Since these can vary from one person to another they are useful for figuring out ethnicity. However some variations can have health effects. Typically you would need more than one variation to greatly increase your risks of specific diseases, but not always.

MTHFR location on chromosome 1 from the NIH page about it

So what does the MTHFR gene do? It has the instructions for making an enzyme critical to turning the amino acid homocysteine to another amino acid, methionine, a building block for making proteins. That is a simplification; click here for the full explanation from the National Library of Medicine (NIH).

One health condition, known as homocystinuria, causing blood homocysteine levels to be too high, is caused by variations in this gene. However that can easily be addressed with certain vitamin B supplements. Geneticist Charis Eng discusses why a DNA test is not needed to diagnose or treat this at https://health.clevelandclinic.org/a-genetic-test-you-dont-need/

Selection Panel on right at Promethease

The genetic cause is not simple, according to the NIH at https://ghr.nlm.nih.gov/gene/MTHFR#conditions – “At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly.”

So can I answer my cousin’s question? There are several SNPs in the MTHR that have been intensely studied, maybe these were tested in her Ancestry.com test.

My advice to her was to upload to Promethease.com which will analyze this nicely for her. When you look at the report, type MTHFR in the box labeled Genes (outlined in red in my image here) and let it tell you your risks.

Of course I still had to figure out whether I could find the most interesting MTHFR SNPs in the raw results. If they are not there, then Promethease will not be much use.

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Jamboree Round Up

The SCGS Jamboree is perhaps my favorite genealogy conference because there are so many DNA talks. Of course the i4GG conference, which is coming back to San Diego on December 8-9, is all DNA so I love that one even more.

It was great to meet so many of the people I only knew via the internet, particularly the DNAadoption crew for whom I have written several tools. Here we all are last Thursday night (thank you Leah Larkin for taking the photo!)

Front: Rob Warthen, L to R: Gale French, Barbara Rae-Venter, Pam Tabor, Barbara Taylor, Richard Weiss, Karin Corbeil, me, Don Worth, Kaitlin Mueller (Rob’s stepdaughter)

A shout out to all who came to my Triangulation talk, the slide for MyHeritage triangulation is now included. Those slides are online at https://slides.com/kittycooper/dna-triangulation-8-8-26#/

My presentation about using GWorks with unknown parentage cases went very well. This pleased me since I had worked so hard to try and make this tool understandable. I did this by showing how I used it on a few cases. Here is my favorite slide:


The idea is that you can usually find the ancestral couple to build down from on a second cousin match’s tree by using GWorks alone. Look at the top ancestors in the GWorks compare all trees to see if any of them are on the second cousin’s pedigree tree.  In the image above the tree is on the left and the top GWorks matches on the right. Do you see any names in both places? Click the image to go to the slide, then click the forward > to see the answer highlighted.

All the conference videos and audios are available for sale (Click here). There were talks I did not get to in time to get a seat, and others that conflicted with each other, so I will probably buy a few myself.

One of the things I have been thinking about a lot recently is how to get my younger family members interested in family history and perhaps even DNA.
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Will I see you at Jamboree?

Next Thursday is DNA day at the Southern California Genealogy Society’s Jamboree in Burbank, one of my favorite events. I particularly love the outdoor bar restaurant between the hotel and the conference center. Usually the weather is perfect for spending the evening there with friends. If you have been wanting to buy me a glass of wine, here’s your chance!

Thursday also has a series of free events all day long, including a DNA round table at 5:00 pm with a number of DNA experts at tables. You can come to mine to ask questions about 3rd party DNA tools. [UPDATE 28 May 2018: I should also mention that the exhibit hall with all the main DNA vendors is also free on Thursday but parking is $15]

The speakers for the paid DNA day sessions on Thursday, besides myself, include Blaine Bettinger, Leah Larkin, Paul Woodbury, Emily Aulicino, Tim Jantzen, Shannon Christmas, David Nicholson, Daniel Horowitz, Schelly Talalay Dardashti, Diahan Southard, Barbara Rae-Venter, David Dowell, and many more. My sessions are “DNA Segment Triangulation” and Using DNA and GWorks for Unknown Parentage Cases.” Click here for the full schedule.

If you can’t get there, you can sign up for live streaming at http://genealogyjamboree.com/live-streaming-2018/ – sadly it is not free this year, but very inexpensive. In previous years you could buy recordings of many of the sessions, hopefully that will happen this year too.

The main genealogy sessions start Friday morning, but there is at least one DNA related session at every time slot including an “Ask the DNA Experts” at 5pm (and yes I am one of them). Saturday also has plenty of DNA sessions.
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How to find a killer using DNA and genealogy

It was only a matter of time before the methodologies and technologies that have been developed to break genealogical brick walls and find unknown birth parents were used to identify victims and criminals. The use of DNA and genealogy to solve the horrific Golden State killer case has been sensationalized in the media for several days now. I even got a few calls from reporters as a DNA and GEDmatch expert. Also, just two weeks ago an unknown murder victim from 30 years ago, found in Florida, was finally identified from a DNA cousin match on a genealogy site.

Some of my friends and cousins are worried about the possible invasion of their DNA test privacy. Most just want to understand how this can be done, so I will try to explain that in this post. At the end of this post I will include links to other genetic genealogy blog posts that have wrestled with the issues raised.

You share about 98.5% of your DNA with this fellow

Although I have sympathy with the concerns of people who fear false identification using DNA techniques, this is not my fear. The methodology used gets to a pool of possibles whose actual DNA is then collected and compared. I have confidence in that technology. My fear is that my cousins will stop testing their DNA to help my family projects or stop uploading their tests to my favorite tools site, GEDmatch, where the DNA test results from different companies can be compared.

Click here for an article at the LA Times which went into more of the technical details of the Golden State killer case for us genetic genealogists and here for a lengthy video interview with investigator Paul Holes on how it was done.

Let me start my article by reminding all of you that every human’s DNA is about 99% the same as every other human and about 98.5% the same as a chimpanzee. The companies who test your personal genome only test a small sample of that differing 1%. To put it in numbers, our genomes have about 3 billion base pairs and the tests cover about 700,000 of those, which comes out to about .02% of your genome. Not enough to clone you or worry about, in my opinion.

Next let me remind you that uploading your DNA results from Ancestry or 23andme or wherever you tested to GEDmatch does not expose even that little bit of your DNA to the public. What happens is that your “DNA cousins” will match long sections of your data, called segments, and they can see which locations on which chromosome(s) are the same between the two of you. Therefore they know what your actual DNA code is only on those pieces they share with you. When they match you in the GEDmatch database, they can see your email address, name or pseudonym, and your kit number. With that kit number they can see what color your eyes are, what ethnicities various calculators give, and who else you match. If you have connected a family tree to your DNA they can also see the non-living people in your tree. But they have to match your DNA significantly to see any of that! Click here for an article I wrote addressing privacy worries at GEDmatch

So how do you get from there to a killer?
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