Talk:Lethal white syndrome

message: IMHO, Lethal White affects enough horses and more than one breed, especially with its controversial, possible, (probabe??) link to the Frame Overo gene that it should be ranked medium importance.  There is a DNA test as well.  Seems to have the numbers, publicity and concern amongst laypeople to justify a higher ranking.  (As should, when you get to them, HYPP and HERDA)
:This is exactly why I asked for more input on the equine medicine articles - I knew I would mess up the importance ratings.  Thanks for clarifying this.  By the way, I already rated the HERDA article as low importance, but please change it if you think it warrants a higher rating.  --Joelmills 02:34, 10 July 2007 (UTC)
replies: text: Sigh. There is no link of LWS to the frame overo gene, as this article goes to great lengths to explain, and this common misunderstanding is the cause of dangerous and wasteful breeding practices. I agree with the medium importance. Dcoetzee 06:38, 10 July 2007 (UTC)
replies: text: Well, the frame overo thing is a dispute between UC Davis and the University of Minnesota, but we won't argue that here. Montanabw(talk) 21:36, 10 July 2007 (UTC)
replies: text: There is no dispute, and I think it's worth arguing here if it affects the factual presentation of the topic. I'm not aware that UC Davis has ever made a statement after Minnesota published their results contesting them in any way - Laurie Fio's work clearly predates the blood test and Minnesota's findings by several years, and had no basis in experimentation. Dcoetzee 23:03, 10 July 2007 (UTC)

text: If anybody is interested in reading a slightly more recent article about this, there is one from the Canadian Veterinary Journal here, entitled "Foal with Overo lethal white syndrome born to a registered quarter horse mare", which would seem to bear out what Dcoetzee is saying.  The gene that OLWS has been linked to is the endothelin receptor B gene, which interestingly is the same one that causes a similar disease in humans, Hirschsprung's disease.  --Joelmills 23:25, 10 July 2007 (UTC)

text: I see what you are saying, Montana, and I missed that part of the article saying that the mare's sire had an overo pattern.  I didn't think that the frame overo trait might have a polygenic base, and that accounts in part for my misunderstanding of the question.  If it was a single gene, and that gene is different from the endothelin receptor B gene, than the two are not linked (unless they are linked).  If multiple genes are involved in the frame overo trait, than they could be linked.  It seems to me that the recent completion of the first draft of the equine genome gives some hope that these questions will be answered.  In the meantime, we depend on seven measly journal articles, the most recent five years old, and only two of which we can access fully.  This is one of the frustrations of trying to seriously write a vet med article - sometimes there is a real dearth of research.  Regardless, don't worry about dragging me into all this.  I find this kind of thing fascinating, all the more so because I don't know anything about it.  --Joelmills 03:59, 12 July 2007 (UTC)
replies: text: Agreed that more research is needed.  Genetic linkage is an interesting thing, and what does make LWS puzzling is that the condition only shows up in horse breeds who also sometimes exhibit the overo pattern; the reason for the correlation is hard to figure out, but it's there. Bottom line on ALL the genetic diseases in various purebred animals is that it doesn't help when breeders just stick their heads in the sand and pretend it doesn't exist. Montanabw(talk) 19:06, 12 July 2007 (UTC)

text: I agree that a correlation exists, and it is certainly the case statistically that a random horse carrying LWS is currently much more likely to be overo paint than any other breed. But now that a blood test is available, and that test has demonstrated that it's unpredictable which horses carry it, sound breeding practices should be based on the test results, and not any phenotype. You might use breed to determine which horses to test. To accuse MN of fabricating results for the APHA's financial interests is silly - I think they would value their reputation as a research institute more. Dcoetzee 19:52, 12 July 2007 (UTC)
thread_title: Discussion

message: I have sympathy for people who have overos and have to constantly deal with uninformed people who think the color causes the disease. Obviously that isn't true; I believe we did point out in the article that many overo horses test negative for LWS.   However, facts don't stop the doggedly uninformed.  I also know people who dismiss every horse in a breed I know particularly well, in part because some representatives have carrier genes for four genetic diseases that can't yet be tested, and only one that can, so my sympathies only go so far.  My axe to grind on the entire topic of genetic lethal diseases (and this includes any breed of horse or dog) is that people need to be honest and to put the good of the breed ahead of personal greed.  That starts with accurate statements and not hiding from some of the uncomfortable truths. That is why I like to work on wikipedia, it is the search for truth that counts.  To say there is NO connection to overo is to distort the truth.  The truth is that now there is a test, people need to use it, and yes, even people with solids and tobianos. 
A university does not falsify results, please do not put words into my mouth. What I am saying is that it is a reality that who pays for research cannot help but have an interest in its outcome and exert subtle and not so subtle pressure on which results may be focused upon and which are filed in the back drawer.  The tobacco industry banked on that factor for years.  The APHA was happy to get a test, I am sure U Minn found the proper markers, but then the money seems to have dried up -- We still haven't figured out why there is a connection to overo ancestry, even if not visible in the phenotype of every carrier.   We still don't even have a good study to determine if overo is a gene complex, and incomplete dominant, or what. 
That said, it also matters that what goes here is stated as carefully and fully and accurately as it can be.  I just spent a good two hours last night checking the statements in the article against what the research and sources actually said and had to correct a great deal of text in the article that didn't have it quite right (probably including a few of my own earlier edits)   The disease, to the best of my knowledge, has not ever appeared in a breed of horse that doesn't have overo members of that breed, and every known LWS foal has at least one overo ancestor.  For example, there has never been a LWS Saddlebred or Clydesdale.  Curious to know if any other breeds besides Paints and Quarter Horses (or crossbreds with those breeds in them) have had LWS other than apparently one mini.(?) Montanabw(talk) 04:32, 13 July 2007 (UTC)
thread_title:  Facing the facts 

message: By the way, did you see the thing in "The Horse" online linking the Appaloosa LP gene to night blindness?  Seems that nature does have a tendency to select against a lot of white in many ways, not just by attracting predators...?  Montanabw(talk) 06:24, 6 September 2008 (UTC)
replies: text: I had seen some of that research, and I'm not surprised; I'll have to read the article! Nature has no such tendency because nature has no tendencies. Our breeding practices have a tendency to encourage changes in highly-conserved building blocks that have affects on many systems.Countercanter (talk) 22:48, 6 September 2008 (UTC)
thread_title: Appy genes

message: * Question about deaf LWS foals: While I'm sure it's possible that the deaf LWS foals were also splash, deafness linked to depigmentation is pretty common. We look for the simplest, logical answer.
::Absent causation, correlation alone may or may not be significant.  Just wondering if deafness was coincidental, or if is possibly a condition helf by all LWS foals?  Wonder how many examples (if one or two, correlation is questionable, if every foal tested for hearing prior to euth was deaf, that would be more significant...)
* Meconium is there, but has become impacted wherever the innervation of the gut ends.
::OK
* cecum + colon = hindgut.
::Hmm.  Depends on source, not worth a spat, I just hear the cecum called the "hindgut" by most of the literature on digestion in the context of horse being "hindgut fermenters" as opposed to ruminants.  If the term is extended to include the entire lower bowel, whatever, just source it.
* With pleiotropy, what am I trying to prove? That the word pleiotropy means what it does, or that multiple traits are affected by the frame gene?
::I think it makes sense to define the term the way you did, it made sense to explain that multiple traits are affected by the frame gene, but because it is a highly technical term not familiar to even the average horse-oriented reader, the brief explanation, even with wikilink too, was a good idea.
* Frames are visually misidentified because they are identified by humans, who are imperfect. I can try to clarify this section later.
::No problem, with that explanation, we just need the source that says "humans foul up and misidentify things."  
* I'm not sure how to reference the TB because it would have to go to his website, unless I get a statement from his owner.
::A reference to his web site is fine.  Nothing wrong with farm web sites if they are the best available source.  If the source itself is questionable, then the whole statement is also questionable...
* How did the solid minis lose their citation? Where did it go? I'll have to go retrieve it.
::Not sure, probably my fault when I rearranged something...source "16a" vanished prior to my editing, by the way
* I've never heard of calico either. You and I would have called it a form of sabino, but it appears the researchers found they could distinguish calico from the other patterns. It's a good study. Do you have an email address? Is it a social faux pas for me to ask?
::Go ahead and shoot me an email via the "send email feature" of wiki, I don't mind.  You aren't a nut! (grin)
* I very much like how you qualified the APHA quote.
::Thanks
* I wish someone would make such a bold statement about the immorality of such willful, harmful crossings. It does give Punnett Squares and explains further. 
::Oh well, we can't have everything.
* Yes, the wording that includes Waardenburg-Shah syndrome is correct.
* Are photos from papers and journals allowed?
::Check the wikipedia articles on Images, which I find confusing and byzantine.  Long story short, if you can either get something released as either GDFL-licensed or public domain, then no problem.  To get something that may be subject to copyright, you have to review the "fair use" policies, as there are some times when it can be done.  (We get away with it on the horse biograpies because one kind of fair use is if there are NO free images available and highly unlikely to ever be)
I have more to do, of course. Countercanter (talk) 13:41, 9 September 2008 (UTC)
replies: text: Of course! Wikipedia:  we can quit whenever we want...after just one more edit... Montanabw(talk) 19:32, 9 September 2008 (UTC)
thread_title: Edit commentary

message: The term "cryptic" is usually associated with crypsis, an evolutionary camoflague tactic. However, scientific literature has also used it to describe other circumstances.
Cryptic merle is applied to dogs which have the merle gene, but express it to a degree that it may be "missed" by human identifiers. 
Cryptic cream is similarly applied to horses which have the cream gene, but express it in such a way that it may also be "missed" by human identifiers (eg. smoky black, dark buckskins). 
Unfortunately, I have not been able to find a written definition for "cryptic" that would allow me to extend this usage to "cryptic frame", though such horses fit the mold set above. In other words, I see that other people apply "cryptic" to misidentified coat colors, but I cannot find a source that gives such a definition. Is it inappropriate to use the term in the article?
Countercanter (talk) 12:58, 1 May 2009 (UTC)
replies: text: I honestly don't know.  I'd say if you can't verify its use, then we can either explain it as a colloquialism, or just toss it.  I'll leave it up to you!  Montanabw(talk) 03:45, 2 May 2009 (UTC)
thread_title:  Citing "cryptic frame" 

message: I think I need to remove any mention of dominance. LWFS is recessive, but frame overo is dominant, even though they are the same thing. It's super confusing and none of the reputable sources call it recessive, dominant, or incomplete dominant. Additionally, I'm not sure that the cream gene reference belongs in there.
Countercanter (talk) 13:51, 1 May 2009 (UTC)
replies: text: As long as we have something in practical terms explaining that BOTH parents have to have the gene for an affected foal to be born.  We may need to explain that the inheritance pattern is complex and not fully understood.  But as for phrasing, whatever the science supports. Montanabw(talk) 03:56, 2 May 2009 (UTC)
thread_title:  Citing "incomplete dominant." 

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