A discussion of the form of albinism found in Dobermans and why assuming Padula's Queen of Sheba is the founder is probably mistaken.
In the previous post, I mentioned that one form of albinism in dogs had been formally identified in just the last few months. In October of last year, a group from Michigan State University discovered the mutation responsible for white (also called albino) Dobermans. Researchers looked at the four genes known to be involved in Oculocutaneous Albinism in human beings – OCA2, TYR, TRYP1 and SLC45A2. (“Oculocutaneous” means that both the skin and the eyes are involved.) The mutation was found on SLC45A2. Those familiar with the molecular end of horse color genetics might recognize that gene, which used to be called MATP. That is the gene where Cream was found. To someone familiar with horse color, these dogs would be the equivalent to cremellos.
There are differences, of course. In horses, Cream is quite infamously an incomplete dominant. That fact is so well known that the color is often the most effective way to explain the concept of incomplete dominance to a horseman. White in Dobermans is recessive, and so is invisible in the carriers. It might be more accurate to say this is like Pearl in horses, which is another SLC45A2 mutation. Pearl is recessive, but horses of that color typically have dark eyes.
In appearance, however, homozygous Cream and “Doberman White” are a lot alike. Both have faint residual color that is more visible where the animal would have been black. If you look at Casper, the white Doberman pictured above, you can see the faint outline of the black-and-tan pattern that a fully-pigmented individual would have. Double-diluted Cream horses are likewise not truly white, as can be seen in contrast between the white mane and tail and the pale cream of the body on the stallion below. Although not clearly visible in these photos, the dogs have pale blue eyes. Homozygous cream horse are, of course, known as blue-eyed creams (BEC) in many countries.
So is the horse above an albino? Are the horses below a carrier (palomino, to the left) and an affected (cremello, to the right)?
The position of many within the horse community has been that cremellos, perlinos and smoky creams are not albinos because they do not have pink or red eyes, and because they do have some pigment. It is the position of the Doberman Club of America that because the mutation was assumed to have occurred in the same gene as Oculocutaneous Albinism in human beings, the dogs were by definition albinos. In fact, while referring to a cremello horse as in albino will probably engender a certain amount of derision in the horse community, arguing that these Dobermans are anything but albinos would get the same reaction among their breeders. So which is it? As I said in the last post, I suppose it all depends on whether you define albinism strictly or loosely.
It should be understood, too, that there are reasons behind both positions. There have been horsemen campaigning for some time to change the belief that double-diluted creams were defective. Most do say that the horses are somewhat sensitive to the sun, much like fair-skinned people are, but otherwise they contend that the horses are healthy. They would certainly not agree with the Doberman Pinscher Club of America that these horses are carrying a “deleterious mutation which affects the whole body” that is considered “a genetic defect in all creatures”, which is how that organization describes albinism. The desire not to have these horses, or other pink-skinned white horses, called “albino” is about avoiding that kind of stigma. Meanwhile, the insistence that these dogs be called albinos, and not white, is very much about placing that stigma on the dogs. Most breeders of Dobermans would like to have these dogs removed from the stud books. That is the official position of the breed club, though the structure of stud books in the dog world means that only the American Kennel Club (AKC) has that power. The AKC has a long history of inaction when it comes to denying papers based on color. Because the breed club lacks the power to ban the dogs, what is left is convincing breeders not to perpetuate the color, and buyers not to purchase the puppies. Statements made about the color have to be understood in that light.
This also ties back to the discussion about founders and their colors. However one defines albinism, and whatever one believes about the health of the white Dobermans, this statement about the source for the color is misleading.
In November 1976, a mutation occurred with the whelping of a cream colored Doberman.
The white color in Dobermans is recessive. As I mentioned in the previous post on Splashed White founders, an individual with a recessive color that appears unexpectedly is the not the founder. The initial mutation could not have first occurred in Padula’s Queen Sheba, the cream-colored female referenced in this statement, because she carried two copies of the same mutation. To be the founder, both copies of her SLC45A2 gene would have to have mutated at exactly the same time, in exactly the same way.
A 4,081 base pair deletion was identified between chr4:77,062,968-77,067,051. The deletion start site lies within the last exon of SLC45A2 and results in a loss of the last 50 amino acids of the normal protein, as well as the stop codon, and causes the addition of 191 new amino acids before a new stop codon occurs.
That is the precise change that was identified as causing the color. That exact error would need to happen twice, to the same dog, for Sheba to be the founder. That exact error would need to happen twice, to two different dogs, for her parents to be the original founders. Sheba may well have been the first ever occurrence of the color in the breed, but it did not start with her, nor with her parents. If she was purebred, and an investigation conducted by the AKC when she came to light concluded that she was, then the color came from somewhere on both sides of her extended pedigree.
That means the mutation could be found in other lines, or outside the Doberman breed completely if it predated the formation of the breed. Sheba’s breeder claimed there was another white puppy born to this same pair prior to Sheba, but it did not survive. That would be completely expected. In fact, if this breeding were repeated it would be surprising not to have any other white puppies. Sheba was homozygous for a recessive mutation, or else she would not have been white herself. If she was homozygous, both parents were carriers. Bred together, two carriers would be expected to produce an average of 25% white puppies. After Sheba came to light, it was found that seven other unrelated dogs were registered as “white”. (Sheba’s registration attracted attention because her owner attempted to register her as “albino”, which was not an option.) Dr. Jim Edwards, then an official with the AKC, wrote to the following statement:
This investigation has uncovered an additional seven (7) Dobermans registered as “white” and not included in Shebah’s pedigree. These occur sporadically, with ages varying from two years to fifteen years. Only two of these have produced litters, and only three litters have been registered. We are continuing our investigation into these cases and will provide appropriate updates to the DPCA when our analysis is complete. I am encouraged that this number is small, remembering that color assignment is sometimes difficult for the novice breeder.
For someone interested in founders, those dogs would be of particular interest. The breed club believes that each case was one of a misidentified fawn; that is, a dog that has both the blue and the brown dilution. Fawns are an accepted, if not an especially popular, color in the Doberman breed. I am not sure of the basis for this determination, so I cannot comment on the ultimate color of those dogs. I can say that entries like that are where I look when I am searching for clues about color founders, and about the spread of color mutations in general. I would also add that when trying to track something down, confusion about color assignment works both ways; if registered whites may be in fact fawns, then registered fawns may in fact be white. I have often regretted that fact, because it would be a lot less work tracking down colors if this was not the case! But my interest in color research is purely academic, and motivated out of curiosity. Even if they were fawn – and it is quite possible they were – it would not change the fact that there were likely carriers outside of the one known line, at least at some point. Whether they still exist is an open question. Because this issue, in this breed, has been emotionally charged for some time, chances are that strict culling has been practiced in any cases of white puppies. This far down that path, it is unlikely that if the mutation was in other lines, it is anything but rare now. But the truth is that strong stigmas, while they do promote culling, also promote secrecy. When the stakes become so high, and the reaction to an unexpected white puppy less rational, even the most ethical breeder is forced to weigh the costs of total honesty. When doing my own research, I have learned to include this kind of situation in how I weigh the reliability of information.
With the discovery of the actual mutation, it should be possible to develop a test to identify the white mutation in Dobermans. Hopefully the breed club will support its development and encourage its use by all breeders. If the color is not wanted, then testing and avoiding crosses between carriers is the real answer to the problem. Widespread testing could also provide answers about where the color began, along with the facts about where it can still be found.
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