Professional Documents
Culture Documents
The Backyard
Geneticist
by C.A. Sharp
C.A. Sharp has been in Australian Shepherds since the early 1970s, breeding and
showing through the early 1990s. She has served ASCA as a member of genetic-
related committees and been advisor to USASAs H&G committee. In 2007, ASCA
recognized her devotion to breed health by granting her a life membership. She has
written extensively on canine genetics topics and is co-author of two peer-reviewed
scientific pagers. Her writing has won several DWAA Maxwell awards. From 1993-
2014 she published the award-winning Double Helix Network News.
She is President of the Australian Shepherd Health & Genetics Institute, Inc. (ASHGI)
which has aided Aussie health research both logistically and financially in addition to
providing education and information services for Aussie breeders, owners, and clubs as
well as for those in other breeds.
Breeding Strategies
Playing COI 19
The Impossible Dream 22
What Price Glory? 24
Genetic Juggling 26
The Decision Tree 29
Not WHO You Know But WHAT You Know 33
Side Effects 37
Setting Priorities
Bad Genes, Babies, and Bathwater 41
Flavor of the Month 43
Many more articles on specific canine health issues and how to manage them in a breeding
program can be found in the articles and FAQs on the ASHGI website: www.ashgi.org. Click
on Genetics Info. For reprint permission on any of these articles, contact the author.
Consider the hypothetical case of Old Blue, short life-span. Where can I go to get away
Malthound extraordinaire. Blue was perfect: from this? breeders wondered. The answer
Sound, healthy and smart. On week days he was nowhere.
retrieved malt balls from dawn to dusk. On People became angry. The
weekends he sparkled in malt field and responsible parties should be punished!
obedience trials as well as conformation shows, Breeders who felt their programs might be
where he baited to--you guessed it--malt balls. implicated stonewalled. Some quietly decided to
Everybody had a good reason to breed shoot, shovel and shut-up. A few brave souls
to Blue, so everybody did. His descendants stood up and admitted their dogs had a problem
trotted in his paw-prints on down through their and were hounded out of the breed.
generations. Blue died full of years and full of The war raged on, with owners,
honor. But what people didnt know was that breeders and rescue workers flinging
Old Blue, good as he was, carried a few bad accusations at each other. Meanwhile
genes. They didnt affect him, nor the vast everybody carried on as always. After another
majority of his immediate descendants. To decade or two the entire Malthound breed
complicate the matter further, some of those bad collapsed under the weight of its accumulated
genes were linked to genes for important genetic debris and went extinct.
Malthound traits.
A few Malthounds with problems started This drastic little fable is an
showing up. They seemed isolated, so everyone exaggeration--but not much of one. Heres
assumed it was just one of those things. A similar, though less drastic, example from real
few declared them no big deal. Those life: There once was a Quarter Horse stallion
individuals usually had affected dogs. All in all, named Impressive. The name fit. He sired
folks carried on as usual. many foals who also exhibited his desired traits.
Time passed. More problem dogs But when they and their descendants were bred
turned up. People made a point not to mention to each other, those offspring sometimes died.
the problems to others because everyone knows Impressive had been the carrier of a lethal
the stud owner always blames the bitch for the single-gene trait. No one knew it was there until
bad tings and takes credit for the good. Stud they started in-breeding on him. The situation of
owners knew it best to keep quiet so as not to a single sire having this kind of drastic genetic
borrow trouble. Overall, nobody did anything to effect on a breed became known as the
get to the bottom of the problems, because if Impressive Syndrome.
they were really significant, everybody would be Many species and breeds of domestic
talking about it, right? animals, including dogs, have suffered
Years passed. Old Blue had long since Impressive Syndromes of their own. But cases
moldered in his grave. By now, everyone was like that of Impressive are only the tip of the
having problems, from big ones like cataracts, iceberg. A single-gene trait becomes obvious in
epilepsy or thyroid disease to less specific things just a few generations. But what about more
like poor-keepers, lack of mothering ability and complex traits?
Incest, the marriage of close also manifest itself as poor health. Its
relatives, is forbidden on moral and legal effects are often so subtle that breeders or
grounds in most human societies. But the even veterinarians may not recognize the
prohibitions also make biological sense. root cause and not every inbred animal will
Inbred individuals tend to suffer from show signs of it.
inbreeding depression. Among humans, the Inbreeding-related reproductive
ancient Egyptian pharaohs and the more failures include lack of libido and low sperm
recent Hawaiian and European royal count in males while females may fail to get
families provide the better known human pregnant, have unusually small litters, or
examples. Inbreeding depression has not exhibit poor mothering ability. Non-
been studied much in dogs but it is well reproductive indications of inbreeding
researched in other species. depression can be manifested as a high
Many dog breeders know very little frequency of immune-mediated diseases,
about inbreeding depression. Purebred significantly higher incidence within a line or
dogs, including the Australian Shepherd, breed of one or more diseases than is seen
are commonly bred to related individuals in the species as a whole, or even things as
and occasionally bred to relatives close subtle as dogs that is are poor-keepers or
enough that among humans such a match that seem to catch every little bug that
would be considered incest. These are comes along. In really severe cases, a
dogs, not people, so the moral issues are very inbreed strain may go extinct.
not the same. However, we ignore the The level of inbreeding is usually
biological impacts of the practice at our measured using a formula called Wrights
perilor more accurately the peril for our Coefficient of Inbreeding. It calculates the
dogs. probability that genes may have been
Inbreeding depression is the loss of inherited from both sides of an individuals
viability or function resulting from excess pedigree. It is far too complex to do by
inbreeding. The signs of inbreeding hand over more than two or three
depression most frequently cited are generations, but some of the better
reproductive failures. Anything that impacts pedigree software will calculate coefficient
reproduction is an up-front concern for dog of inbreeding (COI) for you. The usual 3-5
breeders. But inbreeding depression may generation pedigree won't give sufficient
Is Outcrossing Dangerous?
First published in the Australian Shepherd Journal, Mar/Apr 2005
Breeders lore has long maintained that In populous breeds like the Australian
outcrossing ought to be done only occasionally if Shepherd it is very possible that two dogs
at all because doing so dilutes the qualities of a will share no common ancestry on a three-
line courts disaster. There are numerous tales to five-generation pedigree but will actually
about breedings that went wrong because of an be closely related. The breed average 10-
outcross. But is this really the case? generation coefficient of inbreeding (COI) for
Australian Shepherds is somewhere around
What is an outcross? 14%, or slightly higher than that of half-
Before deciding whether outcrossing is siblings who are otherwise unrelated. The
or is not a good idea, we need to have a good COI is calculated over ten generations
understanding of what it is. Generally speaking, because fewer will not represent an
an outcross is the mating of two largely accurate measure of background
unrelated animals within the same breed. inbreeding. Most Aussies are already
Virtually every dog in a breed will be at least closely related, though it is possible to find
slightly related to all others if you search far some with substantially different pedigrees.
enough back in the pedigrees.
The best way to gauge whether a cross
When people review printed pedigrees
is or is not an outcross is by calculating the COIs
of prospective mates and see few if any
of the parents and the proposed litter. If the
common names behind both dog and bitch, the
result for the cross is low (under 6.25%) or at
resulting litter is assumed to be an outcross.
least substantially lower than that of the lowest
However, if one does not have a thorough
parental COI, it can be termed an outcross.
knowledge of the breeds pedigree history, an
Here are some examples:
apparent outcross may be nothing of the sort.
Heresy Revisited
Is crossbreeding ever justified?
Playing COI
Using inbreeding Coefficients
First printed in Double Helix Network News, Spring 2000, Rev. May 2013
FX = [ {) n1+n2+1 (1 + FA)]
Breeding dogs is a numbers game. much genetic diversity as possible within the
Even though math problems are the last thing on existing breed population in order to avoid or
your mind, what you are doing when you breed reduce such unwanted health problems as those
is calculating the best odds for getting a desired mentioned above. Along with screening and
result. But a little applied mathematics, in the maintaining detailed health records, another tool
form of a coefficient of inbreeding (COI) can be available to you is the COI. Track COIs on your
helpful and even enlightening. Now that breeding stock. Calculate them on proposed
technology allows even the mathematically matings, with an eye to keeping the numbers
challenged to put them to use, COIs are a tool low if they already are or lowering them where
that should be applied by every breeder. possible.
So, how is this done? Via a formula
Research in the fields of genetics, called Wrights Coefficient of Inbreeding. It
immunology, and veterinary medicine, is turning appears directly beneath the title of this article.
up more and more information indicating that Before you drop this publication in a math-
high levels of inbreeding can have deleterious phobic panic attack, be advised that the only
effects on health. Inbreeding depression, a practical way to use it is with a computer. For
complex of behavioral and physical reproductive those who enjoy math or want more detailed
problems, has long been recognized. background, there is an excellent discussion of
Inbreeding can increase the frequency of a applying the formula hands-on in Malcolm Willis
disease in a population, sometimes quite rapidly. Genetics of the Dog, pages 320-326. For the
Inbreeding leads to increased incidence of rest of you, there are other options.
immune-mediated disease and cancer. The easiest way to incorporate COIs
All pure breeds of domestic animals are into your strategy is to purchase a pedigree
inbred. (Keep in mind that to a scientist database program that will calculate them.
inbreeding means the breeding of related Select pedigree software than offers COI
animals, which would include what we call calculation as a feature. You will also need a
linebreeding.) But how much is too much? comprehensive pedigree database, including as
Without it, the breeds could never have been many of the ancestors of present-day dogs as
developed and would not breed true to type. possible. Some vendors can provide starter
However, almost all breeds of purebred dog databases for various breeds.
already have well-established type. There is no
mistaking a Chihuahua for a St. Bernard. Or Now that weve soothed the math
even a Greyhound from a Whippet. Given this, anxiety, what exactly is a COI? It is the
breeders would be well advised to retain as probability that a homozygous gene pair will be
First published in Double Helix Network News Winter 2005, Rev. Nov. 2009
When breeders discuss goals the Dachshunds back was not nearly so long nor
catchphrases improving the breed and striving low to the ground. Big dogs are bigger, small
for perfection are all but routine. But what ones smaller and in coated breeds the
exactly are perfection and improvement? Are competence of the groomer can be just as
they even achievable? For that matter, are the important as the qualities of the dog for success
terms even meaningful? in the ring.
This isnt to imply that breeders are Is this type of change truly
spewing hype with no goal greater than improvement? In some cases it renders the
attracting business. What most mean by these dogs unsuitable for their original purpose or
phrases is, Im trying to produce the best quality predisposes them to health, soundness or
dogs of this breed possible. But in the process maintenance difficulties. There is a term coined
the concept of quality gets entangled with ideas by enthusiasts of vintage architecture to
of improvement and perfection in ways that may describe improvements gone wrong:
not ultimately benefit the breed. Remuddling. To find a remuddled breed one
needs look no farther than the modern English
A contradiction in terms Bulldog, which cannot even reproduce without
Consider improvement. On the face of significant human intervention
it, that might mean moving closer to perfection.
Even if one assumes, for the sake of argument, If it aint broke
that perfection is a constant, most purebred In some cases, maintaining the status
dogs are bred for show. Show breeding tends quo may be the best tactic. Author and Border
toward the exaggeration of physical appearance. Collie trainer Donald McCaig has said Refining
When a breed has a signature trait, a breed is a mistake. The best we can do is
such as size, coat type, or a distinctive shape of leave it no worse than we found it.
head, that trait frequently becomes more This is obviously true when the
exaggerated over time. The Pekinese once had improvement has rendered the dog more difficult
a muzzle, the American Cocker Spaniels coat to work or live with. In the case of a function
did not always flow to the ground, and the breed still regularly utilized, like McCaigs Border
Genetic Juggling
How to manage polygene traits in your breeding program
First published in the Fall 2009 issue of Double Helix Network News
Traits with simple, single-gene maintain or avoid them can cause breeders
inheritance are easy for breeders to deal with. endless frustration.
We all know how to get merle pups in our litters Many desired traits are polygenic.
if we want themor not, if we dont. But when it Some behavioral traits like the working
comes to complex traits, those that are stockdogs ability to move livestock, or aspects
governed by multiple genes and also sometimes of conformation like dentition or the front end
have environmental components, the effort to
Top breeders dont get that way by experience, you must develop a consistent and
accident. Each and every breeding is preceded thorough evaluation system that will help you
by careful planning drawn from an encyclopedic select breeding stock or a stud for your bitch
knowledge of the breed and of individual dogs, and, if you are a stud owner, determine whether
past and present. Top breeders have standards or not you want to make him available to a
that guide their decision-making process and a particular bitch. What you need is a decision
clear view of what they want to accomplish, not tree.
only in individual breedings but with their line of
dogs. It requires knowledge, determination and Growing a system
experience. A decision tree doesnt have leaves or
So how do you, an up-and-coming roots, but it can sprout branches. It is a graph
breeder, get where they are? While indicating starting and finishing points, and
accumulating knowledge and gaining routes through all the decision points in
Pollination
Consider another common
breeders decision: Selecting a stud
for your bitch. (Figure 2) The first
thing you need to do is put together a
list of possible candidates. Even if
you think you want to use a particular
dog, going through the process will
help you determine whether your
prime target actually is the best
option for this particular breeding. A
secondary benefit of evaluating
multiple studs is that you will gather
data that may prove helpful in future
breeding decisions for this bitch or
some other you own.
Once you have a list, you
must research and evaluate each
dog. As with the secondary selectors
in Fig. 1, these evaluation points
might be put in any order and, in
actual practice, done concurrently.
Study each dogs strengths and
weaknesses. If hes been bred, what
are the qualities and weaknesses of
what hes produced with special
attention to whether he throws his
own faults or those of your bitch.
Finally, and especially important if the
dog has not been bred before or his
offspring are too young for
meaningful evaluation, what
strengths and weaknesses are
common among his family members,
including direct ancestors and their
siblings and offspring plus the dogs
full and half siblings and their get.
someone you are willing to do business with? If
Once youve evaluated all of the dogs,
yes, then have the necessary health clearances
the next decision point on is to develop a
been done? (In this authors opinion, any dog at
prioritized short list of potential sires for your
public stud should have had every test available
litter.
for the breed and be current on those, like eye
If you own the dog at the top of this
exams, that must be repeated.)
short list, your decision is made. If not the key
decision point is the dogs owner: Is this
The success or failure of any breeders a particular person boils down to whether or not
efforts hinges on the selection criteria she uses. the two of you get along.
A good breeder pays close attention to physical A dog with a winning show or
and behavioral traits important to her goals. performance career or one bearing a major
These primary selection criteria are regular kennel name can be a useful marketing tool for
topics of discussion, not only between owners of your litter. Accomplished dogs and successful
the prospective sire and dam, but at shows, breeders can have enormous positive impact on
trials and almost anywhere breeders get a breed. But a kennel name, no matter how
together. revered, is only as good as the dog who carries
But there a number of factors it. Not every puppy produced, even by the most
surrounding individual breedingsand the esteemed kennel, will be of breeding quality.
practice of breeding in generalwhich can Even a top winner might require second
cause side effects to your breeding plan, for thoughts if he is siring large numbers of litters;
good or for ill. These factors may seem his reproductive success can limit your future
peripheral. They may even be things you dont breeding options.
think much about at all. The devil, as they say, is in the details.
There are a variety of decisions a Before any mating can take place, owners of
breeder makes that arent related to the qualities stud and bitch need to come to an agreement on
of the dogs involved. Even so, these decisions the terms and conditions relative to the
can have a very real influence on which stud you breeding. A high stud fee may be too much for
select for your bitch. Cumulatively, they can your budget, closing the door on a potential litter
impact the genetic future of your breed. You before serious discussions ever take place. The
might not think of these things have an influence stud owner is the one who presents a contract to
because they have more to do with business, the owner of the bitch. If you, as the bitch
economics and marketing than with dogs. owner, want to change something, the stud
owner is free to agree to an amendment or not.
Secondary selection criteria If the two of you cant come to terms, the
Geography matters, though perhaps not breeding wont take place.
as much as it did a few decades ago. Today,
we can ship semen to the bitch, eliminating the Environmental impact
risk and expense involved with sending her Breeding decisions dont take place in a
great distances and into an unfamiliar vacuum containing only the people and dogs
environment. Even so, there are still costs directly concerned. All of us operate in a wider
involved and sometimes that will tip the scales in environment which can shape our decisions as
favor of a more local stud. You are also more breeders. What is or is not acceptable in dogs is
likely to be familiar with a dog in your area, as colored by our human cultures, whether of the
well as his family and his get, leading you to country in which we live or the smaller dog
choose the local boy. culture in which we operate.
Personalities can enter into the mix. All Geography also has its role here. The
of us know people we really like and a few we nature of the place you live cannot help but
really dont. Its human nature to want to do influence breeding decisions. Someone who
business with someone we like, or even operates in an intensely urban area may have a
someone for whom our feelings are neutral, different idea of the suitability of one dog over
rather than one who makes us uncomfortable. another than someone who lives in the middle of
While this may sometimes have a direct bearing 10,000 acres. What works in cultivated farmland
on the dogs involved as in the case of may not work in near-wilderness. Climate and
someone known to be particularly honest (or topography impact the way weand our dogs
not!) in his approach to health issues live.
sometimes the desire or reluctance to deal with
Everyone has heard the phrase, Dont carriers in the breeding population, breeding
throw out the baby with the bath water. But do them only to non-carriers so they could avoid
dog breeders ever stop to consider how this producing HA- affected puppies. By such a
admonition applies to them? Certainly not the method they could have retained the good
novice who righteously declares that he will aspects of those carriers, including freedom
never, ever, keep anything that has even the from genes for PRA or Fanconis, while
possibility of producing the smallest genetic gradually lowering the incidence of the HA gene.
defect. Not the experienced breeder who Now that a Fanconi test is available, they can
refuses to consider an otherwise excellent line use this approach for that disease.
because it sometimes throws cataracts. And
most definitely not the individual who declares Fortunately for the Basenji, there is still
that all DNA-tested dogs found to be carriers of a native population of the breed in Africa. The
recessive disease mutations ought to be Basenji club prevailed upon the AKC to allow
removed from breeding. This tendency toward them to re-open the stud book to admit some
genetic over-kill not only culls dogs that might African-born Basenjis. This badly needed
have something to offer, it can exacerbate the source of new genetic material comes at great
very problems breeders are trying to avoid. The trouble and expense for those breeders who
following is a real life example of what can make the effort acquire one of these imports.
happen when breeders exercise short-sighted This option isnt even possible in some breeds,
culling in the name of genetic disease control. and even where it is, convincing a large registry
like AKC to accept undocumented foreign
In the early 1970s, breeders of Basenjis imports is itself a daunting task.
launched a campaign to wipe out a fatal genetic
disease called pyruvate kinase deficient In spite of what happened with the
hemolytic anemia (HA). HA is caused by a Basenji, this should not be viewed as an
recessive gene. Dogs with a single copy of the indictment of screening tests. The problem
gene are healthy, but those with two copies die. wasnt the HA test, but the drastic culling
A screening test was developed that would process that breeders undertook when using it.
indicate carriers as well as affected animals. If there is a test which can identify carriers,
Breeders zealously screened their dogs, make use of it. This is especially true of DNA
eliminating not only affected animals but the tests which not only reveal the dogs genotype,
healthy carriers from the breeding population. they are not subject to the false positive or
negative results of other types of testing.
Today HA is rare in Basenjis, but the Breeders need to know as much as possible
incidence of Progressive Retinal Atrophy is about the genetic potential of their breeding
significantly higher. As is yet another fatal stock. Ideally, they should be willing to share
disorder, a kidney problem called Fanconis the results, whether good or bad, with other
Disease. At the time, neither of these diseases breeders.
had a screening test that would indicate carriers.
(A DNA test for Fanconi is now available.) Had Knowledgeable dog people know there
breeders been less fanatical in their pursuit of is no perfect dog. Even the best of them have
HA, they might have retained the healthy faults. The faults are not only those
The Australian Shepherd isof medium size and boneSlightly Longer than
tallcoat of moderate lengththe topskull lengthequal to the muzzle...Lips
are close fittingThe ears liftone quarter (1/4) to one-half (1/2)break forward
or slightly to the side
Breed Standard, Australian Shepherd Club of America
The Australian shepherd isslightly longer than tall, of medium size and bone,
has a coat of moderate lengthHead is...drymuzzle is equal in length or slightly
shorter than the back skullThe Earsbreak forward...or to the side
Breed Standard, American Kennel Club
Breed standards are the template We humans find the novel irresistible.
breeders use to guide their selection of physical We are fascinated by whats new or different.
traits. Ideally, the dog as described should have We crave whats hot. This is true not only of
the physical attributes necessary to perform clothing trends and electronic gizmos, but also
whatever its original task might have been. our dogs. There are breeds or types of dogs
Ideally, the big winners in conformation events that have been in because something
should be stellar exemplars of their breed frequently a popular movie or television program
standards. Ideally. presents them to the public at large in an
appealing manner. While we who are in dogs
generally cringe when our favorite breed shows
In the Mode
How traits pass in dogs, lines and breeds
First published in Fall 2002 Double Helix Network News, Rev. March 2013
What dog breeders do is not breeding You cannot tell from appearance
dogs; normal, healthy dogs can do that without whether a dog exhibiting a dominant phenotype
any assistance from us. Breeders manipulate like black is also carrying a recessive allele.
genes, encouraging some to pass on from However, knowing the phenotypes of dogs in its
generation to generation while at the same time pedigree can give you an indication of whether it
trying to prevent others from doing so. With might carry the recessive. If a black dog has a
somewhere around 25-30 thousand canine liver parent you know that black dog is
genes to work with and, for most of them, no heterozygous, meaning it has two different
way to know for sure exactly which versions, alleles. Such a dog will produce liver if bred to
called alleles, a particular dog carries we are not another dog with at least one copy of the liver
doing much more than rolling dice unless we allele. It has a 50/50 chance of giving a liver
develop a thorough understanding of modes of allele to each of its pups.
inheritance: How genes flow from a dog to its When looking at pedigrees and thinking
offspring, as well as down through generations about autosomal dominant or recessive traits,
of a line or breed. the breeder should follow the pedigree back step
by step along each path of ancestry and note
Single-gene modes of inheritance where he first encounters a dog he knows was
Inheritance from parent to offspring is either one or two copies of the recessive allele.
the most basic and easiest to understand form In most cases 4 or 5 generations will be
of gene transmission. Every dog has two copies sufficient. The closer up an ancestor with the
of each autosomal gene. (Autosomal genes are recessive is, the more likely it will have been
those that are not on the sex chromosomes.) inherited. Dogs which exhibit the trait have two
One of these copies came from its father and copies of the recessive allele and will always
the other from its mother. What combination of pass the trait but a carrier which has only one
alleles it has is its genotype. How the alleles may or may not. If you dont know the genotype
interact with each other, other genes and the of the dominant phenotype individuals that lie
environment will determine what traits you will between that ancestor and your dog, you cant
see in the dog, referred to as phenotype. know for sure if the recessive was passed along
The most basic mode of inheritance is or not. The farther back the carrier is, the less
simple dominance. Black vs. liver color is a likely the gene will have passed on.
classic example. The allele for black is By knowing how many and how far back
dominant; the allele for liver is recessive. If a are the ancestors that you know carried a
dog has at least one copy of the dominant black recessive trait, it is possible to precisely
allele, it will be black. For a dog to be liver, a calculate the probability that a dog has inherited
color produced by the recessive allele, it must the recessive allele. Even the math phobic can
have two copies. A black dog might produce have a good idea of what could happen just by
liver puppies if it carried a recessive allele, but a studying the pedigree. However there is one
liver dog cannot produce black puppies unless factor those who dont want to mess with math
bred to a black. need to keep in mind. We tend to think of
probability being halved with each generation:
First published in Double Helix Network News, Spring 2012, Rev. Aug. 2013
The old saying dont throw out the baby dogs would have the potential to produce the
with the bathwater warns us not to lose track of unwanted trait, but there was no way to tell who
whats important by overemphasizing a negative did and who didnt. The risk of breeding those
detail. Anyone who achieves lasting success in individuals and possibly producing the bad thing
the dog game learns that it is the totality of an wasnt worth it despite whatever good traits the
individual dog that must be considered. While dog might possess.
there are specific faults and defects that are Since the completion of the canine
deal-killers for any responsible breeder, most genome in 2005, science has been able to
need to be evaluated in the larger context of the pinpoint individual genes responsible for
breed, a breeding program, or the dogs particular traits. When those traits are diseases,
collection of vaults and virtues. However, in a DNA screening test is soon developed and
recent years a technological advancement has made available to the public. These tests are of
sometimes made the bathwater so murky for tremendous benefit: For the first time in dog
some of us that we forget there is a baby in breeding history, a breeder can know with
there somewhere. absolute certainty what every one of her
breeding dogs genotype is for various inherited
If some is good, more is better diseases, as well as a few physical traits like
is another oft-cited truism. This coat color.
phrase might even be hardwired into the human Since dog breeds genetic backgrounds
brain. We are endlessly fascinated by extremes differ, the diseases common in one will vary
of all types which we often view as better than from those common in another. Therefore, each
the normal run of things. DNA screening tests breed has its own set of tests. In Australian
are proving to be one of those things. Shepherds, we commonly do DNA tests for
Until very recently, the only way we MDR1, a drug reaction mutation; HSF4, a gene
knew to prevent producing something unwanted with mutations that cause cataracts, one of
was to avoid it. If a particular thing was very which causes most of the cataracts I Aussies; as
bad, avoidance might mean eliminating a whole well as Collie Eye Anomaly and the progressive
group of related dogs from a breeding program rod-cone degeneration form of Progressive
or even an entire breed. Not every one of those Retinal Atrophy. About a half dozen other tests
Pedigrees
The Breeders Road Map
First published in Double Helix Network News, Spring 2004, Rev. May 2013
Road maps tell you where youve been point you toward additional information.
and where you are going. If you are breeding Analysis of pedigrees and supporting
dogs, pedigrees are your roadmap. They dont information will aid you in making informed
just tell you what has been. Used properly, they breeding decisions.
can give you a good idea of where you need to
go. This doesnt mean that your goal is to make Pedigreed Dogs
something that looks pretty on paper. Youre The use of written pedigrees is so
breeding dogs, not documents but those intrinsic to the breeding of purebred dogs that
documents contain a wealth of data and can the general public views them as synonymous.
Alphabet Soup
Why do genes have such weird names?
First published in Double Helix Network News, Summer 2009, Rev. May 2013
Remember the good old days when Actually those old single-letter gene
genes were so simple for a breeder to names were themselves short-hand for more
understand? They were dominant or recessive descriptive terms. The names were almost
and occasionally incompletely dominant. We always related to traits like coat color that were
figured there was a gene for almost every trait, easy to identify. A, B, M and Tw were
though a few were polygene so there wasnt abbreviations for gene names: Agouti, Brown,
much you could do about them. And the names! Merle and Tweed (the gene for a variation of
The names were easy: A, B or maybe M. A merle sometimes called harlequin in Australian
really fancy one might be Tw. Then came all the Shepherds.)
genome research and scientists found that dogs Ill be using bold capital letters to help
dont have a hundred thousand genes, but 20-30 the reader understand how the abbreviations are
thousand. And the names! ALX4, EPM2B, and derived from the gene names. In actual usage
HSF4 where do they come up with these? they are not bold. The abbreviations, however,
The truth is it was never simple. But are always in caps unless the researcher
years ago science new only a little and the works with mice, in which case they capitalize
average personwhich included most dog only the first letter. (Some people just have to
breedersknew even less and most of what be different.) For our purposes as dog breeders
was known didnt have a direct bearing on what we will go with what the dog researchers use,
we do. Now that science is able to read the which is the all caps abbreviations.
genetic code and has started figuring out exactly Gene names in Drosophila, the fruit fly
what genes do, theres a huge amount of favored by generations of geneticists, often
information out there that actually can be applied describe mutations associated with those genes:
to not only breeding in general, but to specific Buttonhead, wingless or hunchback. ALX4
breeds of dog. (Aristaless-like homeobox 4) is a gene dogs and
It turns out that genes are part of a many other species share with Drosophila and
complex interconnected network. This network the name is used for all these species even
links not only genes, but other parts of the DNA though the trait the name describes applies to
and molecules within the cell that regulate and insects: Arista refers to the bristle-like
control the activity of genes. The names of the appendages on the end of the flies antennae.
genes can tell us something about what roll they As you can see with ALX4,
play in that network. Most of this knowledge abbreviations are still in vogue, though theyve
isnt something we are going to apply to our dog gotten longer. Our old favorite A is now ASIP,
breeding efforts on a daily basis, but short for Agouti SIgnal Peptide. We can still
understanding why the old terminology we used use the old short-hand as a convenience
to describe specific genes has changed can help amongst ourselves, but if we want to look up
us absorb new scientific findings that may have recent research on a particular gene we need to
a direct impact on our dogs health and the know the current scientific abbreviation.
choices we make as breeders. The more we So how is it they come up with these
understand, the better equipped we will be to weird names? One of the most common naming
breed better, healthier dogs. conventions is to use the protein the gene
First published in Double Helix Network News, Winter 2007, Rev. May 2013
It started with an e-mail, but could as people. He gives me his name, Kevin, and that
easily have been a phone call or letter. Upon of his dog, though not everyone who contacts
occasion, it takes place face-to-face. The writer me is comfortable providing this information.
told me his dog had been diagnosed with an Even if they dont, Ill do what I can to help them.
inherited disease. He wanted to know what this Im not a vet, so I didnt offer Kevin
meant not only for that dog, but for related dogs treatment advice for his dog. I did ask how the
in his kennel and that those hed sold to other dog was diagnosed and what testing had been
First published in two parts in Double Helix Network News, Spring and Summer 2003, Reprinted in the
Aussie Times, Nov-Dec 2003
DNA Fatigue
Why Keep Giving?
First published in Double Helix Network News, Summer 2004, Rev. May 2013
I told them all about Blue, and offered In three decades of providing genetic
to give them any kind of samples they want. education and counseling for people with
How come they told me no? Australian Shepherds, Ive heard this lament
more than once. Rejection hurts and it smarts
all the more when you have a dog that is sick or
First published in Double Helix Network News, Spring 2007, Rev. May 2013
In a perfect world, once people in a solve, no matter how much data and samples,
particular breed recognized an inherited health money and effort have been invested. Hip
problem, they would find an interested scientist dysplasia is a common and serious problem in
who would then provide the breeders with many breeds of dog. Thus far, science has
specific information on how the disease is given us a better understanding of the
inherited and a DNA test that allows them to environmental influences on the disease and
screen breeding stock for carrier status. provided surgical treatments that can improve
Unfortunately, life is seldom so clean and simple quality of life for the more severely affected
for dog breeders or scientists. dogs. However, we still have no way to screen
breeding stock for HD genotype so we can stop
Recently I had a conversation with a producing dogs that have it. The complex
breeder who was unhappy because a particular genetics of HD and the influence of environment
researcher didnt come through on a project of on gene action has thus far been too tangled a
great interest to her. She was skeptical that any knot for researchers to untie, but not because
project done at this researchers institution they havent tried.
should be supported. His failure to develop a To date, the only polygenic puzzle that
wanted study made him untrustworthy in her has been partly put together is cardiomyopathy
eyes and put an onus on the university where he in Dobermans. Researchers were able to
works. determine which genes were functioning
The rapid advance of canine genetics abnormally in the heart tissue of affected dogs.
and veterinary medical research in recent years Even so, there still isnt a screening test. The
has put the worlds of purebred dogs and disease develops in adult dogs when genes that
scientific research in much closer proximity than formerly worked properly cease to do so.
ever before. Most of us know little about the Science must discover why this starts to happen
inner workings of the scientific research before Doberman breeders can hope for a test
community. It is easy to become frustrated that will identify affected dogs before they
when a much-wanted project doesnt flow become ill or let them know which healthy dogs
smoothly, or perhaps fails to flow at all. It is the are carriers.
breed communitys responsibility as individuals Our expectations of science must be
and, most importantly, clubs and breed health reasonable, based on the current state of
organizations, to make sure we have done knowledge and technology. For some things we
everything we can to move research projects of need to plan for the long haul. Someday we will
interest toward successful conclusions. That have genetic screens for HD and
means not only supporting the research effort cardiomyopathy, but it isnt likely to happen in
but doing our homework before making the near future.
commitments.
Research projects can go astray for Money Money Money
numerous reasons beyond our control. The best research project in the world
However, if we become better informed about wont go anywhere if the researcher cant get the
how the process works we can avoid investing money she needs to do the work. Good science
too heavily in a project that is iffy. We also need is expensive. Even the most dedicated dog
to gain better understanding of our organizations may not be able to fully fund an
responsibilities as providers of data, samples important project. If other funding isnt available
and financial support. the work may not go forward. Marshaling our
forces by forming alliances with other breeds or
What Happened? organizations may enable us to achieve our own
A research project may not produce the breeds goals.
outcome we desire for any number of reasons. With luck, the researcher may already
Some problems prove extremely difficult to have financial support from government,
Nothing happens in a vacuum. No registries. The Swedish Kennel Club has one of
matter what the cause, progress doesnt happen the longest standing and makes for review
without the passion, effort, and commitment of health records available
many people and the involvement of the (kennet.skk.se/hunddata/) via their web site.
organizations they form. This is no less true of Most of these registries include at least the
canine health efforts than anything else. results of eye, hip and elbow exams. Screening
Everyone, from the hierarchy of the major for diseases prevalent in particular breeds may
kennel clubs at the top on down to the also be included. In the past few years DNA
membership of your local breed club, needs to health screening tests have been added to the
recognize that the health of our dogs is a high mix. The various clubs publish the information
priority and take steps to insure that our in print form and sometimes, like the Swedish
practices promote not only dogs with sound club, make it available via searchable on-line
minds and excellent structure but longevity and databases. The motivated breeder can use
health, as well. these resources to track breed health issues so
they can make informed breeding decisions.
The major players The Kennel Club in the United Kingdom,
There was a time when health issues the first of its kind, set the standard for all others
werent given much attention. Even so, there that followed. A few years ago they launched a
were some shining achievements like the health and welfare program which all kennel
Golden Retriever Club of Americas involvement clubs could emulate. The Assured Breeder
in the founding of the Orthopedic Foundation for Scheme
Animals (OFA.) For the most part health issues (http://www.thekennelclub.org.uk/breeding/exper
were on the back burner, if not in the closet. ienced-breeder/assured-breeder-scheme/)
However, over the past couple of decades there provides certification to breeders who meet
has been a major shift in attitude and action at certain standards of breeding practice, including
all levels of the purebred dog community, breed-specific health screenings requirements
including at its highest levels: The national and recommendations.
kennel clubs. The American Kennel Club has also
These clubs wield tremendous influence become much more active in health-related
over a wide range of canine activities. Their issues. In 1995 it established the AKC Canine
programs provide the events we enjoy with our Health Foundation (CHF, www.akcchf.org/) The
dogs while their studbooks maintain vital records AKC underwrites some of CHFs operating costs
of the heritage of the breeds they support. They and provides generous contributions toward
are looked to by the public as well as dog CHFs research grants. Since its founding, CHF
enthusiasts as supreme authorities on almost has, among other things, provided stellar
anything pertaining to dogs. That authority can breeder and club education programs and
go a long way toward setting standards for millions of dollars for research on a wide range
health. of canine health issues. The findings of those
For many years a number of European projects have lead to improved diagnostics and
kennel clubs have maintained open health treatment, DNA screening tests for breeding
The mythic heroes of yesteryear single- his ax, Beowulf slew Grendel, and Hercules
handedly performed mighty deeds: Paul cleaned the Aegean stables (a dirty but
Bunyan felled entire forests with one swing of doubtless necessary job.) But outside of myths,
First published in Double Helix Network News, Spring 2012, Rev. Sept. 2013
Susan, an established and respected cataracts or had produced them. Some people
breeder, mated one of her bitches to a stud claimed the dog himself had developed them
owned by David, another established and when he was 6 years old. After more
respected breeder. She kept a male pup who investigation she learned that some of these
turned into a top competitor and an excSusant rumors were true. David had lied to her. When
sire. A few years later Susan started receiving she confronted him, he refused to give her a
reports that some of her males offspring had current eye report on his dog and threatened to
cataracts. Susan had rarely experienced sue her if she pursued the matter further.
cataracts in her bloodline but, since it was a
common breed problem, she had requested a Susan was furious and frightened.
copy of a current eye exam form on Davids stud David had put her breeding program and those
and had asked about eyes and other health of others at risk. His actions had caused
issues in his line before she bred her bitch. avoidable misery to dogs and their owners. She
David had denied having any problem with eyes. knew remaining silent would only add to the
problem, but what could she do?
Susan started talking to other breeders,
trying to find out where the problem had come
from. In the process, she heard rumors that The story of Susan and David is a
numerous offspring of Davids male either had composite of several incidents. Sadly,