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Border Wars: A Border Collie Blog |
Posted: 14 Oct 2010 07:49 AM PDT Collie Eye Anomaly is an inherited genetic disease which causes abnormal structure within the eye. It has variable expression from mild dysfunction to blindness and there is no treatment. CEA is one of the few genetic diseases in Border Collies that there is a DNA test (developed in 2005) for, and thus it has gotten more attention than other endemic Border Collie diseases that do not have tests; i.e. epilepsy, exercised induced collapse, cancer, etc. The ABCA estimates:
This is consistent with a disease that has reached a stable saturation according to the Hardy-Weinberg equilibrium principle. If we have 2.5% affected and the other conditions of equilibrium are satisfied we would expect 26.6% of Border Collies to be carriers and 70.9% to be clear. This would lead to an affected allele frequency of 15.8% (2.5 + 26.6/2). Although 25 in 1,000 affected isn’t as pervasive as we see with some other diseases or even CEA in other collie breeds, it has a significant penetration within the breed. For comparison, some of the the most common single cell autosomal recessive disorders in humans are sickle cell anemia at 0.23 in 1,000; cystic fibrosis at 0.4 in 1,000; and familial hypercholeserolemia at 2 in 1,000. Even widespread diseases like Alzheimer’s at 14.5 in 1,000 and color blindness at 13 in 1,000 in humans are half of the incidence of CEA in Border Collies. Because CEA is a simple autosomal recessive gene, a dog needs two copies–one from each parent–to be affected, and will be a carrier if only one is inherited. The nature of this disease and the growing pool of DNA tested dogs makes it possible to trace the disease back into history and apply probabilities that a given ancestor was affected, a carrier, or clear of the disease, even though those dogs died long before DNA testing became available. Using this method, it is 99% likely that popular sire Wiston Cap was a carrier for CEA. The ABCA acknowledges this without defaming the dog that appears on their seal:
Although the ABCA’s Health Committee has gingerly broached the subject of line-breeding, genetic disease, and the popular sire effect; trialing culture apologist Donald McCaig sings a different tune:
Well, we know that isn’t true. We know that Wiston Cap was a carrier for CEA and we know that he has cemented his genes into the breed. His genetic influence on the breed is 13.52%, meaning that for the CEA allele, Wiston Cap alone contributed 6.76% of the bad allele frequency. That’s ~43% of the allele frequency we calculated above. It’s hard to say that the community has “dodged a bullet” when one dog, not that long ago, being over bred and his descendants linebred could have single handedly accounted for 126 in 1,000 carriers and 5 in 1,000 affecteds for CEA. The other falsehood in McCaig’s analysis is that there wasn’t another Wiston Cap and that this other popular sire was perfectly healthy. Despite his fecundity, Wiston Cap didn’t quite reach the heights of his ancestor J.M. Wilson’s Cap (who appears 25 times in Wiston Cap’s pedigree). Wilson’s Cap is the dog with the most genetic influence on the Border Collie breed determined by recorded pedigrees at 16.91% influence. According to the same historical analysis that determined Wiston Cap was a CEA carrier, it’s 63% likely that Cap was CEA affected, 36% chance he was a carrier, and 1% chance that he was normal. If Cap was affected, he alone would account for the entire frequency of CEA within border collies. A 16.91% allele frequency would theoretically result in a Hardy-Weinberg equilibrium of 2.9% affected, 28.1% carrier, and 69% clear. This is comparable to the estimate of the disease published by the ABCA. If Cap was a carrier, he alone would account for 53.5% of the CEA frequency. Applying the weighted average given to us by the historical analysis of 13.96% allele frequency, Cap would account for 88.6% of the CEA in the breed. The two most influential sires in Border Collies both carried CEA. Now, correlation does not prove causation, and I am not contending that CEA was a new mutation seen only in Cap and that he alone is the reason we see it in Border Collies. What IS true is that should Cap have been affected by a brand new deleterious mutation, he was such a popular sire, so over bred and his descendants line-bred on him so often, that you’d expect to see that disease as widespread in the breed as we see with CEA. |
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Border Wars: A Border Collie Blog |
Posted: 12 Oct 2010 02:57 AM PDT |
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Posted: 11 Oct 2010 02:34 AM PDT |
Posted: 10 Oct 2010 11:54 PM PDT Lusia at Lassie Gets Help puts forth Dewi Tweed, the 2010 International Supreme Champion sheep dog as proof that the “genetic bottleneck” in Border Collies is benign or perhaps a myth.
Sadly, COIs for one dog’s parents and grandparents don’t really tell the story of what’s happening with the breed. Especially when you’re only looking at 6 generations. But let’s look at Dewi Tweed anyway. Here’s the published pedigree: And here’s a Legend to explain what the notation means: The first thing you’ll notice is all the green. Every green dog on the pedigree has major trial results. I count 18 of the 62 dogs on the pedigree with major trial results. You’ll notice that the top of the pedigree is dominated by Bwlch Taff, a major sire with 715 registered puppies to his credit, and whose genes alone comprise over 3% influence on recent dogs. For reference, Wiston Cap has a current breed influence of over 14%, making him literally the great-grandfather of the breed. In a normal pedigree with no inbreeding, parents each have a 50% influence, grandparents a 25% influence, and great grandparents 12.5% influence. In the case of Dewi Tweed, popular sire Wiston Cap has a blood influence of 18.4% even though you have to go back at least 6 generations before you find him on the pedigree. So even though he’s been gone for more than 30 years, he still holds more realestate in Dewi Tweed’s pedigree than a great grandfather. But that measure alone doesn’t account for Wiston Cap’s impact on Dewi Tweed. The COR is what’s called the Relationship Coefficient, and it estimates the percent of genes passed down from any specific ancestor to the target dog. Wiston Cap’s COR on Dewi Tweed is 26.7%. So although he only takes up the equivalent space of a great grandfather, Wiston Cap is like a grandfather to Dewi. This isn’t too surprising given that Wiston Cap appears 156 times on a full pedigree of Dewi Tweed between the 6th and 16th generations, with the 1st generation being the parent dogs, not the target dog. In fact, Dewi Tweed has blood from 9 of the top 10 most popular Border Collies. What is clear from the chart is that Dewi Tweed is the product of a concerted effort to breed to a very select few popular dogs. It’s also clear that those few poplar dogs are also highly related. This is the popular sire effect. Just look at how some of them like Ben represent a very small theoretical percent of blood but a commanding influence on the genetics. The concentration of genes in the gene pool through inbreeding and line-breeding have allowed Ben to pass down his genes over 17 times more than would be expected from his 15 appearances on the pedigree. You can’t magnify genes within a gene pool without marginalizing other genes. It’s not surprising that the youngest popular sire Wisp (who has still managed to romance his way into the top 4 studs of all time) doesn’t have influence on Dewi Tweed; as of the year 2000, roughly 80% of the puppies born did not have any influence from Wisp yet. There simply hasn’t been enough time for him to work his way into a more lines, but we’ve already experienced his exponential rise to fame and his influence is leveling out at 4%. Although Donald McCaig recently said:
The truth is that there HAVE been many other popular sires who have cemented their place in the breed forever and consequently narrowed the gene pool. Here is a chart of all of them, Wiston Cap is #31154. He isn’t even the most popular sire. That honor belongs to Cap 3036 who would have still surpassed Wiston Cap even if Wiston Cap wasn’t so highly inbred on Cap 3036 in the first place [~24.5% of Cap's genes are found in Wiston Cap]. You can see Cap’s rise to dominance happened even before Wiston Cap was born. Luisa noted that Dewi’s parents aren’t very inbred when when we look at only very recent generations, 6 generations in the case of the supplied chart. Well, a COI6=4.4% for the sire Lad isn’t a very impressive number. That level still indicates active line-breeding, as we can see, the same sire Bwlch Taff appears twice in the third generation. The dam’s COI6 is much better at 1%, but we can still see inbreeding on common ancestors like A. Owen’s Ben. I entered 3149 ancestors of Dewi Tweed into my pedigree program and ran Dewi Tweed’s COI6 and got 2.27% More interestingly, I ran Dewi Tweed’s FULL COI calculation where you take his entire known pedigree into account. This is a superior calculation and represents the true degree of theoretical allele concentration due to inbreeding and line-breeding. Before access to genetic programs such calculations were impractical, thus the popularity of more crude measures like a COI6. Dewi Tweed’s full COI is 9.3% Again, while the recent breeding on Dewi Tweed’s pedigree doesn’t top the charts in gross inbreeding it does not offer us any consolation that a genetic bottleneck does not exist in the Border Collie breed. In fact, his pedigree proves that such a bottleneck does exist. Dewi Tweed is a typical example of what’s happening breed-wide: a declining interest in breeders using excessive levels of inbreeding (like father-daughter, litter mates, etc) but the overall COI of the breed still rising at an alarming rate. COI6 numbers are falling, but full COI numbers are rising. That fact tells us that we’re past the turning point. There’s no way to out-cross our way out of increasing COIs using only registered dogs or following the same breeding trends we have been, specifically over-breeding the “flavor of the month” trial sire far and wide. I applaud Luisa for recognizing an amazing dog that was bred and handled by an exceptional handler, but she goes too far to suggest that his pedigree assuages what should be a serious concern over the future genetic health of the Border Collie breed. |
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Border Wars: A Border Collie Blog |
Posted: 06 Oct 2010 04:01 AM PDT Border Collies aren’t known for their love of water, but the gang and their offspring are big fans. One of the rituals the dogs cherish is attacking the hose beast water snake in the backyard whenever we have to use the garden hose to water plants, clean the patio, or refill their blue wading pool. This is always a serious fight to the death. Here, Mercury takes on the automatic watering system at a Bed and Breakfast I first visited when his father Dublin was a two month old puppy. In an unlikely coincidence, the family of friend bought the B&B recently and when they heard I’d been there before I was invited down to be one of the first guests after they did some cleanup and remodeling. Without an in-ground sprinkler system, they’re using this ingenious automatic water feeding system built to look like a John Deer tractor that actually follows the hose that supplies the water as a track around the lawn. .. What I find fascinating is the mental problem solving we see going on in Mercury’s head as he confronts the beast, gets soaked, learns how it works, and slowly tests methods to avoid the spray and stop the device. He ultimately succeeds. |
Posted: 05 Oct 2010 09:47 PM PDT My old dog Black Jack was an apple hound; watching him steal one from the fruit bowl on the table when he didn’t think anyone was looking always left us laughing. He wouldn’t go for the direct snatch and grab, instead he’d pretend to watch the TV and then crane his neck over his shoulder and use the side of his mouth to grab his prize. His eyes would roll back into his head so he looked like a crazy alligator and never accomplished his goal of being incognito. .. I didn’t think the current crop of dogs liked apples, they certainly don’t Bogart the Honeycrisp cores or raid the fruit bowl like Jack did. But I caught them this afternoon picking their own crabapples off of our tree in the backyard. I think they got the idea from my dad who spent the afternoon a few days ago cleaning up the fallen apples. The dogs always take an interest when there’s work going on. It looks like they got a taste for them while helping clean them up and now they have to pick their own off of the low hanging branches. Luckily, they haven’t yet joined the Farm Workers Union to protest their low pay or having to urinate and defecate in the same place they work picking fruit. |
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