Renal Dysplasia DNA Test Now Available
Posted: June 9, 2007 Filed under: Lotsa Lhasa Info Leave a commentFrom Dr. Catherine Marley:
RENAL DYSPLASIA UPDATE:
March 2007
Good news from Dr. Whiteley! She has results coming out now on the test for the “C” mutation. The previously seen sequence mutations “A” and “B” that affected the same gene seem now to have represented alteration in the nucleotides of the gene, peculiar to Lhasas and Shih-Tzus, that may only represent a “weak spot” in the DNA which is susceptible to mutation. The real culprit seems to be “C”, also a mutated sequence in the same gene.
Mary has found a 100% correspondence between the disease and the presence of “C”. She has also found that “C” prevents the formation of any protein by the gene. All active genes are templates for proteins. These proteins are the enzymes and messengers that control development and all chemical functions of the body. Whatever the critical protein is, that controls some aspect of development of the renal system, IT IS NOT MADE by the chromosome with the “C” mutation. The implication of this is that if there are two “C” mutations the protein is completely missing. And if the animal has only one “C”, the animal may have some deficiency or delay in the manufacture of the essential protein which governs development of the kidney. The former would totally prevent differentiation of the renal system, while the latter would present itself as a variable degree of incomplete development of the kidney – which is exactly what we see in HKD/JRD.
The further implications of this fit very well with what Mary has discovered. NONE of her DNA specimens so far, taken from living animals, have contained two copies of the “C” mutation. Since the heterozygous state (one mutation, one normal) is fairly common, it is statistically possible to have NO homozygotes ONLY if all the homozygotes fail to develop in utero. If the protein in question is one that induces the embryonic mesenchyme to develop a kidney, and possibly other mesenchymal structures, then the embryo which lacks that very early induction protein most likely will not develop past an early stage.
Normally, breeding of two carriers (heterozygotes) produces 25% clears, 50 % heterozygotes, and 25% homozygotes. Our previous understanding of the breeding statistics was that 75% of the offspring of two carriers were at risk of having and transmitting HKD/JRD. The “C” mutation improves the odds that an individual in one of our litters is a “clear” since homozygotes are all lost at conception or shortly thereafter. What we will actually see in our litters from two heterozygous animals, is 33% clears, and 67% heterozygotes. Of course, because some embryos are lost, litters might be smaller.
Mary should have some results soon for all you Apso owners and breeders who sent in specimens. Some of the results may be disappointing to those who originally had the good news that their animals were free of the “A” and “B” mutations, But the advice remains the same because the facts are still the same. Very few of the animals with the “C” mutation are clinically affected by HKD/JRD, though they are able to transmit the disease to offspring. Our breeding programs will need to continue to use the heterozygotes so as not to cause another “genetic bottleneck” like the original founder effect. If we do this, we can, through testing, gradually eliminate the gene, while preserving the diversity of the breed.
Learn more about Renal Dysplasia
American Lhasa Apso Club’s 2007 National
Posted: June 9, 2007 Filed under: Lotsa Lhasa Info Leave a commentGrab your cowboy hat and spurs! We’re off to Houston, Texas next year. The dates for the 2007 National Specialty will be October 22 through 26. ALAC Judges are Keke Kahn for the Regional, Barbara Schwartz for the National and Ron Crowder for the Futurity. Greater Houston Lhasa Apso Club Specialty Judge will be Darby McSorley.
An “Above all, do no harm” Approach
Posted: June 9, 2007 Filed under: Lotsa Lhasa Info Leave a commentWritten by Leslie Baumann to the apsobreeders list.
In my opinion, when we had more clears in the breeding population, the breed actually had a greater chance of bottlenecking on those dogs. If we all started out with plenty of clears, our human tendency would be to ditch the carriers, removing all sorts of worthwhile strains from the breed, and only breed the clears. Having a high rate of carriers makes a breeder’s job harder but I would argue that the fact that more of us are forced to continue to breed our healthy carriers may end up protecting genetic diversity rather than limiting it. At best, we can remove the mutation from the breed. At worst, we may find we have to live with it in a certain percentage of the breed population. But at least we’ll know which dogs are which!!!! As Kathy R. points out, we may be in something of the same boat as folks with breeds that carry for the merle gene or the hairless gene…they have to “zig/zag” to get the color/hair type they want without producing the defects that those genes, in their homozygous form, can produce. For the next two or three generations, we may have to do a similar “zig zag” to get what we want. But just because it’s hard, seems to me is no reason to give up!!!!
I will say that we are all learning something about science…that is, the more we know, the more questions remain! And, of course, if this were an easy disease, we wouldn’t need a genetic test! I believe we will find that testing full litters can provide some valuable insights for us, particularly if we all feel free to share our results without being “judged.”
Why does our carrier rate seem so high right now? Is there, as Cathy suggests, another piece of the genetic puzzle that we need to know? As we’ve discussed before, seeking the component that modifies the penetrance of the mutation, is problematic. It might or might not even be genetic. However, without knowing where and when we have the mutation, we certainly can’t begin to find the modifier. In addition, as Kathy R. asks, is there a trait that we’ve been selecting for (or selecting against) that is the reason we seem to have a higher than anticipated carrier rate in the breeding population overall? Frankly, if even a few of us feel able to share puppy quality evaluations vis a vis RD test results, it shouldn’t take many litters to figure that one out! With luck, all we have to do is keep some typey clear puppies and move forward. At the very worst, we “zig zag” just as Chinese Crested people do between hairless and powderpuff…or as folks “zig zag” between tri and merle in Collies. Because of the test, we’ll know what sort of “zig zags” we need to do.
We know this mutation has 100% correlation with the disease in other breeds as well as in our own. So, over time, removing the mutation from our breeding population will eliminate the rarest but most heartbreaking manifestation of the disease…early death from renal failure in puppies and adult dogs. The fact that the worst of the disease is also the rarest means we have the TIME to select for the betterment of the breed’s future and do it well and wisely. In addtion, right now the mutation appears to be homozygous lethal…thus giving us one explanation (but obviously not the only explanation) for small litter size and/or missed breedings in our otherwise healthy carrier population. For me, that is plenty of impact on my own breeding program as well as on the long term health and well-being of the breed…incentive enough to test my dogs and my puppies and then “soldier” on.
Not gone…just gone ahead
Posted: June 9, 2007 Filed under: Apso Aficionados Leave a comment 
Vickie’s Mom Mrs. Helen Kathrine Smith
Helen Katherine (Kessler) Smith went to be with her Lord on Saturday, February 24, 2007 at the Hospice Care Center at McKee Medical Center.
She was born on August 11, 1921 to Henry J. and Ada Viola (Phillips) Kessler in Monte Vista. A farming family, they worked the land with plow and horse and weathered the Great Depression.
The family moved to Kansas when Helen was a baby. The growing family returned to Colorado in 1932. As they made the trip over monarch Pass (which was just a dirt road at the time), they were stopped by a reporter from the Denver Post who asked if he could take photos of the family traveling West in a covered wagon – photos which are now treasured heirlooms.
In 1956, she married William (Bill) Smith and they settled on the Western Slope of Colorado, living in Grand Junction and Eckert. From 1966 to 1969, they owned and operated the Eckert Store. Transfers with Bill’s work moved them to Butte and then Billings, Montana, where they spend a total of 11 years. A subsequent transfer brought them back to Colorado in 1980, where they lived in Colorado Springs and Westminster. After retirement, they moved to Loveland in 1996 and made it their home, enjoying the small-town pace… a welcome change from the rush of the big city.
Helen was a homemaker whose focus was her faith and family. She enjoyed family gatherings, weekend dances on the Western Slope in the 40’s and 50s and was always up for a game of pinochle or dice. A talented seamstress and cook, she excelled with needle work, crocheting, baking and candy making. She had a love for her Lord, gardening and animals – traits her children have picked up and carried forward. She shared her love for the outdoors, taking her family on frequent picnics, camping trips and outings to “Cow Camp” set high in the aspens of the Uncompaghre National Forest.
The Smiths, 50-year members of the Lutheran Church (Missouri Synod), were active volunteers and served in many capacities in congregations in Grand Junction; Butte and Billings Montana; Colorado Springs, Westminster and Fort Collins.
Helen, beloved wife, mother and grandmother, is survived by Harry Lee Galloway of Enid, Ohio; Kaye Galloway of Aurora; Dennis Smith of Billings, Montana; and Vickie Smith Kuhlmann of Loveland; sister Louise Kessler of Delta; brothers Hank Kessler, Quentin Kessler, Norman Kessler of Montrose; and Vern Kessler of Naturita. She was preceded in death by her parents, five brothers and four sisters. She also leaves behind nine grandchildren, 14 great-grandchildren, two great-great grandchildren and her beloved Shih Tzu, Buttons.
Viewing will be at Resthaven Funeral Home from 4-8 pm on Monday. The funeral service to honor and celebrate her life will be held at Peace with Christ Lutheran Church in Fort Collins on Tuesday at 2 pm. Interment at Resthaven Memory Gardens immediately following the service. In lieu of flowers, memorial donations may be made to the Arthritis Foundation or to a charity of one’s choice in care of Resthaven Funeral Home 8426 S. Highway 287, Fort Collins, Colorado 80525.
Not gone… just gone ahead.
Zooming in on recently placed Apsos
Posted: June 9, 2007 Filed under: FFT Lhasa Apsos Leave a comment 
Zeke the Zoomer loves his new Zeek Door!
Brother Max is a Zoomer too!
Gracie, according to her owner, “is very absolutely
wonderful, adorable and very, very smart.”
“We’re enjoying her so much, she’s a little
spitfire but lovable at the same time.”
“He is truly a mountain boy! He loves
climbing on the snow piles.”
FFT Koyuki
“Koyuki is doing very good. Every day
she wants to go out so many times and
play by herself forever. She loves to
play in the snow!”
Champion FFT It’s Five O’clock Somewhere
“I guess you can tell we are smitten with him.
Thank you so much for allowing us to have
him in our home.”
Champions FFT One For The Road
“I want you to know your little tidbits are very helpful to me.
Well, guess what!!! Roadie is finally mastering the stairs
slowly, both up and down.”
“Thanks again, so very much, for letting us have one of your
precious Apsos. We consider it a great blessing.”
“Max is great. He has finally settled in and is
enjoying himself tremendously.
Champion FFT Sine Qua Non
“He’s truly an awesome dog. Thank you
so much for introducing us to each other.”
Kunza at FleetFire Timbers 