It Could Happen to YOU

Genetic Surprise!

It Could Happen to You

Written by Kristi Bussler

You may have seen it on Netflix.  “It Could Happen to You” is a 1994 film starring Bridget Fonda and Nicholas Cage.  It explores the actions that take place as the result of a high-odds situation.  In the movie, a man (played by Nicholas Cage) is eating in a diner owned by a woman (played by Bridget Fonda).  When it is time to pay, he realizes he has no money with him.  However, he has just purchased a lottery ticket.  He jokingly promises to split winnings with her if he hits the jackpot.  However, he does hit the jackpot.  And, yes.  He does share it with her.

Lately, I have seen several genetic “lotteries” popping up.  You know, things that have nearly zero chance of actually occurring.  And yet, they do occur.  And, it seems they are happening in places and in ways one would never expect. 

Espagneul Briton DIlute Espagneul Briton silver Espagneul Briton Dilute

Just today, I received a Facebook message (from a friend) about a newborn puppy.  He’s into a breed known as “Espagneul Briton”.  In layman’s terms, this translates to “French Brittany”.  You don’t dare confuse them with just the regular Brittany Spaniels.  I did that once and received a prompt lecture about the differences between the two.  These “Espagneul Briton” breeders seem to have some very high standards and are quite protective of their breed and their little dogs.   The puppy in question was just born, in the last day or two.  It is “gray” and white.  The “gray” is what those familiar with dog genetics would refer to as “dilute black”.  It happens when a puppy receives a dilute gene from each parent.  The presence of two dilute genes causes an alteration in the dispersion of pigment and results in a “faded” or “dilute” appearance.  The funny thing is, the dilute gene is not supposed to exist in the Espagneul Briton breed.  I immediately suspected foul play and asked my friend about the breeding ethics of the owner of this litter.  His reply was, “He’s top-shelf.”  Being no stranger to the layout of the liquor store, I recognized the phrase “top shelf” as very good.  That’s where the really good stuff is kept.  I sent the screenshot of the puppies to some breeder friends.  One of them took the initiative to investigate this breeder’s page.  Here is what it reads, “…this has been proven by xxxxx xxxxxxx Kennel by producing more UKC Champions and Grand Champions than any other kennel in the US…”  Yeah, sounds pretty top shelf to me.  Not only is he “top shelf” in his breeding practices, he appears to be pretty “top shelf” in his integrity, as well.  He went public with this information in what I am assuming is an attempt to explore the genetic possibilities in the breed.  Instead, he has been ridiculed and has even received hate mail.  In discussions with my friend, it sounds as if genetic testing (through Embark Veterinary) is being done to establish parentage and breed purity.

Porter Dilute Show Labrador Dilute Genetics Labrador Yellow Show Labrador

It happened in the Labrador retriever world.  Just a few months ago, there was quite a frenzy on Facebook.   You see, there was this dog (named Porter) who had somewhat of a presence in the AKC show world as a show prospect.  His owner received some surprising DNA results.  Porter (registered name: Big Thunder’s Pass the Pint JH CGC TKN) is, without a doubt, very well-bred.  In reviewing the pedigree online, I see some familiar names from the Labrador retriever world of “show dogs”, such as Dickendall, Belquest, Boradors, Hyspire, and Caer Brens.  Of the dog’s eight great-grandparents, seven of them were “show” Champions.  Of those, two had secured BISS (Best in Specialty Show) titles and one was also a Grand Champion (that’s big stuff).  But, it appears as if Porter is a carrier of the dilute gene.  The LRC (Labrador Retriever Club) is the “parent club” of the breed.  They are the ones who set the breed standard (which has changed at least 3 times since 1917, by the way).  Anyway, the LRC has vehemently (and sometimes viciously) claimed the dilute gene does not exist in the Labrador retriever breed.  I guess someone needs to tell that to Porter and his eight great grandparents, seven of whom are Champions.  Of course, in his case, the presence of the dilute gene in his blood is being blamed on the one ancestor who was not a champion.  For the record, that information would be, at this time, virtually impossible to determine.  At this point, it is unknown how the dilute gene came to exist in the Labrador retriever breed.  It is possibly the result of a random mutation.  Or, it could have entered through one of the many breeds that were used (after the first World War) to refine the breed.  It could also have entered through a breeding mishap many, many generations ago.  We just don’t know.  Sadly, it was reported that Porter was going to immediately be neutered.  He is a fine specimen of a dog, but it seems his owner is submitting to the pressures of a group that shuns this genetic anomaly.

Merle Gene Labrador

Just yesterday, I saw another interesting post.  I belong to a Canine Coat Color and Genetics group on Facebook.  This group is not breed specific and people who represent (and are interested in) all breeds post there.  When I pulled up the page, I see this absolutely adorable puppy with “merle” coloring.  Merle is a funny one.  Evidently, it is dominant.  So, in order to have a merle puppy, one of the parents needs to be merle.  This puppy was born to a Labrador retriever mother.  It allegedly has a Labrador retriever father.  “Impossible!” you may say.  However, the Embark testing result posted shows this puppy as 100% Labrador retriever.  But, if one parent needs to be merle, and neither parent is merle, how could this have happened?  I continued reading the comments and was surprised to learn that merle can be considered “cryptic merle”, which is also known as “phantom merle”.  This is when a dog phenotypically appears to be non-merle, but has patches of merle that can go unnoticed.  Evidently, it happens quite a bit in yellow/white/cream colored dogs because the lighter patches don’t stand out.  Oh, guess what?  This merle Labrador retriever puppy we are discussing?  Well, one of its parents is evidently yellow.

albino Albino Albino

And then, there is my own story, although it is human-based and not canine-based.  Two years ago, my step-daughter gave birth to her second child, a healthy baby girl.  Skylar was born with a full head of white hair.  It’s not surprising, since her mother (who now has light brown hair) was very blonde as a young child.  However, we did notice Skylar was definitely lighter than her blonde brother, Jaydon.  When Skylar was about 6 weeks old her mother noticed something peculiar about her eyes.  They would dart back and forth very, very quickly.  It was almost as if they vibrated.  Skylar’s mom is a teacher, and she is no stranger to research.  So, while they waited for an appointment with the pediatrician, she researched.  When they met with the pediatrician a few days later, Skylar’s mom expressed concern that Skylar had a condition known as “albinism”.  The pediatrician quickly dismissed the notion and explained to her that baby’s eyes develop at different rates.  Skylar just needed more time.  But, her mom had a hunch, so she asked for a referral to a pediatric ophthalmologist.  It took the ophthalmologist less than one minute to make a diagnosis.  There was no pigment in the eyes and Skylar also had a condition known as “nystagmus” (remember the eye movements?).  Skylar was definitely affected by albinism.  Genetic testing later showed that she has Occulocutaneous Albminsm Type 2 (OCA2).  This is a condition that occurs when a child receives a variant gene from each parent.  The testing also indicated that one of Skylar’s variant genes was of European ancestry (Skylar’s mom) and the other was of African ancestry (Skylar’s dad, who is biracial).  So, albinism is one of those conditions that require a recessive gene from each parent, similar to the way dilute coloring is produced in canines.  In fact, like albinism (there are eight different types), it is now suspected that there may be different forms of the dilute gene.  Interesting stuff, huh?  Even more interesting is the fact that, in written history, there is not a person with albinism on either side of Skylar’s “pedigree”.  In fact, the chances of being born with OCA2 are 1 in 40,000.  She’s a beautiful little girl.  She has white hair, white lashes and white eyebrows.  Her skin is alabaster.  Her eyes are a crystal blue and remind you of gazing into a clear, mountain stream.   She’s funny.  She’s independent and she’s incredibly smart.  In short, she’s absolutely perfect.  We never thought it could happen to us, but we wouldn’t change a single thing about her, even if we could.  Also, I wouldn’t be a good grandparent if I didn’t encourage you to learn more about albinism at www.albinism.org.

So, yes.  It could happen to you, too.  In our family’s case, we feel like we are the ones who won the lottery.

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