see section 1 for table of contents
Definitions
and Inheritance
The term "albinism" encompasses a wide range of traits, all of which result from problems with pigment production or distribution. So far, more than 60 different mutations have been isolated from many different species. Many of these mutations and their subsequent effects have been found to be identical in both humans and non-humans. Since the basic mechanisms for pigment production are nearly identical across all mammals, most data gathered from one species can easily be applied to other species. The various albino mutations may act in different ways and may occur at several different sites, but the end result is always a defect in the amount of pigment being produced and/or distributed.
To see databases of some of the many types of albinistic mutations already described in humans and mice, look here and here.
Pigment -- melanin -- is
produced through a series of chemical reactions which are made possible
by the action of various enzymes in the body. The same general process
occurs in all mammals, both human and non-human. For all mammals, the most
important enzyme in the production of melanin is tyrosinase. The "classic" type of albinism
is known as OCA1 -- OculoCutaneous Albinism, type 1. OCA1 involves a mutation
in the gene which produces tyrosinase. Mutations in many different regions
of the tyrosinase gene can cause OCA1.
for
some illustrations of known mutation sites, look here.
Albinos with absolutely no pigment -- the "true" or "complete" or "tyrosinase negative" albinos -- are known as OCA1A albinos. Individuals with other types of OCA, such as "yellow", "brown", or "red" albinos, may have a substantial amount of pigment and still be albinos. In these cases, their defective tyrosinase gene may still produce an enzyme with some residual activity. These albinos are known as "tyrosinase positive" or "partial" albinos. The gene which produces tyrosinase is referred to as "C" when discussing color genetics (see the "inheritance" section below); therefore, mutations in this gene are sometimes referred to as C series mutations.
Melanin is produced in special
cells called "melanocytes", and distributed in small granules known as
"melanosomes", which are located inside the melanocytes. Some types of albinism,
such as OCA2, may affect the normal production and distribution of the
melanosomes. Individuals with these types of albinism (OCA2, OCA3, and
so on) may therefore have normal tyrosinase function, but may still not
have normal production or distribution of the pigment molecules.
OCA2
albinism involves mutations in the P series of genes, which normally produces
an integral membrane protein component of the normal melanosome.
P series mutations are properly referred to as Oculocutaneous Albinism
type 2, but may
also sometimes be referred to as "pink-eyed dilution" mutations in
species such as
mice. OCA2 is actually the most common type of albinism found in humans
across the world, even more common than the "classic" C gene albinism
(OCA1).
For an illustration of the P gene mutation sites, look here; for research papers relating to P gene-related albinism, look here
Although it has not yet been determined whether albinism in Dobermans
is caused by a C series or P series mutation, for simplicity's sake the
gene will be referred to as C throughout this site. Please keep in mind
that this designation may change if canine gene mapping research is eventually completed.
terminology -- The terms "true" and "complete" albino often trip people up when they are first learning about albinism. Please don't be confused by these words. The term "true albino" was coined many years ago, when scientists were trying to distinguish albino animals from animals which were white for other reasons (such as extreme spotting or extreme merling, discussed below). Given the immense advances in our understanding of genetics in recent years, this term is outdated and archaic, and should probably not even be used any more. Likewise, the term "complete albino" is misleading. "Complete", in this context, simply means that the animal is not producing any pigment whatsoever -- it is a tyrosinase negative albino. Likewise, the term "partial albino" simply means that some pigment IS produced -- the animal is tyrosinase positive. Partial albinos ARE still albino, and DO still tend to experience many of the same problems as "complete" albinos. As explained above, mostof the many types of albinism -- even OCA2 (P gene albinism), the most common type of human albinism in the world -- are tyrosinase positive. Don't be misled by outdated terminology!
For more information on albinism, visit these sites, and the "health", "inheritance" , "are white dobermans really albino", and "behavior" sections below:
NOAH
(National Organization for Albinism and Hypogpigmentation) -- What is Albinism?
The
International Albinism Center -- Facts About Albinism
The first albino Doberman recorded by the AKC was Padula's Queen Shebah. Shebah was born in November of 1976. Her parents were two normally-colored dogs, Rasputin VI and Dynamo Humm. Interestingly, Shebah's breeders claimed that Rasputin and Dynamo Humm had produced an albino male in a previous litter; however, this dog died at a young age, and so far as I know there is no firm evidence that he was actually the same color as Shebah, or even that he existed at all. (If anyone has further evidence about this dog, please let me know!)
All the albino Dobermans that have been registered by the AKC are descendants of this single dog, Padula's Queen Shebah. Approximately 11,300 descendants have been registered with the AKC over the last 28 years, and roughly 1830 of these have been albino. The other 9470 or so are presumed to be carriers of the albinistic trait (the only method currently available for separating carrier from non-carrier descendants is by breeding them). All descendants are now tracked through the "z list", which records all dobermans descended from Shebah's parents and registered with the AKC.
At the time that the z list
was originally put together, there was some question about seven dogs which
were registered as white but not related to Shebah. However, it appears
that these dogs were probably fawns which had been misregistered as white.
Dr. Jim Edwards, who was at that time Director of Judging, Research and
Development with the AKC, made 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."
Dr. Jonathan Dodd, editor of the Doberman Quarterly, stated:"The basis for this system is the genetic proposition that all of the "white" Dobermans which have been registered by the AKC stem from a single genetic point in time. Based on this model, it was hypothesized that one or both of the parents of the first registered "white" Doberman would appear in the extended pedigree of every "white", as well as that of every animal producing a "white" offspring. Examination of AKC records has borne this out. Only a few exceptions have been noted and are being investigated, as will any future exceptions. Most presumably result from the mis-identification of fawn animals." Unfortunately, Dr. Edward has since retired, and the current AKC staff disavow any knowledge of any such investigation! Apparently, though, these dogs were simply misregistered fawns.
For more information Dr. Edwards' statement can be found on p. 54 of the 1996 Summer Doberman Quarterly, and Dr. Dodd's statement can be found on p. 221 of the same issue
Interestingly, the registration on Padula's Queen Shebah was originally rejected by the AKC. When the registration application was first sent in, the owners wrote "albino" in the color section. The AKC rightfully returned the slip to the owners, explaining that albino is not a color. Without consulting the Doberman Pinscher Club of America (DPCA), the AKC then independently decided to register Shebah as white (even though she was not actually white). Her registration became official in 1979.
The AKC standard for the Doberman pinscher was amended in 1982, to disqualify dogs "not of an allowed color". Allowed colors are black, red (called brown in other countries), blue, and fawn (also referred to as Isabella).
In 1983, the DPCA bought two albino bitches for breeding studies. These dogs and their offspring were found to have faults such as poor conformation, poor temperaments (aggression and fear problems, problems with trainability), multiple missing teeth, photosensitivity, sunburn, and so on. In fact, most of the puppies out of these test litters had to be euthanized because of their extremely poor temperaments. Additionally, at least one of these original albinos is known to have died of skin cancer.
The AKC agreed to provide specialized tracking of albino and albino-factored Dobermans through special registration numbers in November of 1995, thus creating the "z list". All descendants of Shebah's parents born since 1996 have carried registration numbers starting with "WZ". Every AKC registered descendant of these dogs is recorded in the z list, even those who were born before the "z" registration numbers were instituted.
see
the z list here
For
more specific information on the history of the albino Doberman and
the DPCA test breedings, please refer to the Fall 1991 book 2 and Winter
1995 issue of the Doberman Quarterly
How
is the albino trait inherited in Dobermans?
last
update 6/9/04
Breeding studies, as well as nearly 30 years' worth of litters produced by private breeders, have established the pattern of inheritance of the albino trait in Dobermans. To understand this issue, let's take a look at Doberman color inheritance in general.
In the United States, there are four accepted colors in the Doberman breed. These are black, red (also referred to as brown), blue, and fawn (also referred to as Isabella). In the Doberman breed there are only two sets of genes which interact to produce these colors -- the "B" series, and the "D" series. Each of these gene "series" contains two alleles (variants) in the Doberman breed; the "dominant" allele is referred to with a capital letter, while the "recessive" allele is referred to with a lower-case letter. Dominant alleles always "dominate", or hide, the effects of recessive alleles in the same gene series. So we have B, b, D, and d. B produces black, b produces red (brown), D produces full pigment (non-dilute), and d produces dilute pigment.
Now, each dog carries two copies of the B series of genes and two copies of the D series of genes, and the dominant allele will always cover the effect of the recessive allele. So a black dog can be either BB or Bb, but a red dog must be bb. Similarly, a dog with non-dilute pigment can be either DD or Dd, but a dog with dilute pigment must be dd. Blue dogs are the dilute form of black, and fawn dogs are the dilute form of red.
So here's what we're left with --
Black dogs can be BBDD, BbDD,
BBDd, or BbDd
Red dogs can be bbDD, or
bbDd
Blue dogs can be BBdd or
Bbdd
Fawn dogs can ONLY be bbdd
Now, what does this have to do with albinos?
As reported in the September 1984 Pipeline (the official publication of the DPCA), an albino to fawn breeding (not sponsored by the DPCA) produced all black puppies. Remember, the fawn parent MUST be bbdd -- it has NO copies of the dominant black gene, and NO copies of the dominant non-dilute gene. Since the fawn dog produced black puppies, both the black gene and the non-dilute gene MUST have been contributed by the albino parent. In addition, other breedings have proved that an albino dog bred to any colored dog which does not carry the albino trait will produce all colored puppies. Therefore, the albino trait is not dominant to either the black or dilution traits. This means that a dog must carry two copies of the albino gene in order to hide the other color traits.
These breedings prove that the albino trait is not in the same gene series as either the black trait or the dilution trait. The albino trait must therefore be inherited at a separate site. Further, the albino/fawn breeding also proves that the albino trait in Dobermans is "epistatic" -- which means that it covers or "masks" the effect of both the black and dilution traits when the dog has two copies of the albino gene. The albino involved in the albino/fawn breeding had both the dominant black and the dominant non-dilution trait, so it would have been a black dog if there had been no albino genes present. Since it did have two copies of the albino gene, both the black and non-dilution genes were "masked" or "hidden". That's why the albino gene is often referred to as a "masking gene".
The albino series of genes is classically referred to as "C". Although we now know that defects in several different genes can produce albinism (for example, the most common type of human albinism in the world is caused by a mutation in the P gene), for our purposes here we will refer to the gene as "C" for simplicity's sake. Further breedings have proved that the albino variant in dobermans is inherited as a simple recessive trait. Therefore, all albino dogs must carry two copies of the recessive gene, cc in order to appear albinistic. Normally colored dogs can be either CC or Cc. Dogs who are Cc can be any of the accepted colors, and there is currently no test (except for test breedings) which will detect the albino gene being carried by these dogs. Therefore, beginning in 1996, all dogs who are descended from albinos carry special registration numbers -- "z" numbers -- to warn breeders that these dogs may be carrying the albinistic trait.
see
the z list here
For
more detailed information on color inheritance in Dobermans and the albino
trait, look here: "The Question of 'White'", written by M. Diane Garrard,
in the Summer 1987 issue of Doberman Quarterly, pp. 1-22.