Loren Bolinger, boss TBMitotyper
By Loren Bolinger, Tuesday, August 02, 2005

Loren Bolinger said...

Diversity and Bottlenecks

    Thoroughbred horses were created from a small founder population. Throughout their history [the limited founder gene pool and the possibilities of genetic bottlenecks threatening genetic diversity have been been ongoing topics of discussion. The usual meaning of a genetic bottleneck is when a dramatic reduction in the size of a population causes a reduction in its genetic diversity.

    A genetically prepotent individual can temporarily overwhelm the balance of bloodlines and the diversity of the gene pool of the Thoroughbred in such a way that its popularity upsets the diversity and distribution of patrilines in the gene pool. Less successful bloodlines [both tail-male and tail-female] by virtue of their lack of success, accelerate their own decline. Once past a certain threshold in its decline, it becomes very improbable that a bloodline can return to major influence in patrilineal or matrilineal descent. It remains in pedigrees as a diffuse and distant force usually in the interior of pedigrees where it undoubtedlly does contribute, although indirectly.

    I find an interesting parallel between the subject of the discussion "Diversity" and a similar situation in England that begun 124 years ago. St. Simon and his descendants dominated the Thoroughbred gene pool to such an extent, that their lasting effects created what I belive was a genetic bottleneck. Similar loss of [questionably] valuable tail male lines may have been lost due to St. Simon swamping the breeding population.

    John P. Sparkman recently wrote in the TBHeritage e-mail list, in answer to a question by "Elles Prins",” How big is the St. Simon influence on today's horses?”
"Subject: Re: St. Simon, influence & linebreeding"

"Hi Elles,
According to modern statistical studies, roughly 8% of the genes of the modern Thoroughbred
come from St. Simon, the highest influence of any horse since the Eclipse/Herod era."


    Since the main method we have to determine the relative success or failure of our selective mating schemes IS "the test of the winning post," those that win succeed and those that fail fall by the wayside. Performance ultimately determines the fate of all individuals. It is a harsh and unforgiving reality - this performance testing. An individual's "value," his economic "worth," his prestige and reputation are intimately tied to performance. In the Thoroughbred world, survival of the fittest revolves around racing accomplishments.

    St. Simon [and later, his sons and grandsons], arguably the most significant and dominant sire [and sireline] in the history of the Thoroughbred, saturated the gene pool with his heritable characteristics. His lasting influence has permeated the breeding population such that in most modern pedigrees the number of strains of St. Simon exceeds all other ancestral influences. St. Simon became the most obvious of the forces that created excess-male inbreeding in the gene pool [in the profile of the ongoing, historical breeding population].

    Survival of bloodlines depends on many factors, but the most important is their kinship to winning performance among their descendants. In a performance-based meritocracy, those individuals and families failing to win descend the economic ladder until they become extinct.

    I'm sure tbpedix members can cite other influences that upset the balance or profile of the breeding population through dominance causing similar bottlenecks.

    I'm a firm believer in maintaining diversity of the gene pool of the Thoroughbred, but what a conundrum for breeders. Winner win, losers lose, and unless they remain competitive, bloodlines will fall along the way as they have since the origin of the Thoroughbred. As one who believes in the possibility of improvement through the principles of selective matings, I should be able to help preserve the diversity of rare or less successful bloodlines through clever matings. While it's extremely difficult to figure out how to let altruism trump economics while preserving my own little breeding operation, at some point preservation becomes economically completely untenable. Just as with the elite, my stock needs to win. The "holy grail" among breeders would be some equation of bloodline affinities combined with selective breeding patterns [genotype], biomechanical proportions [phenotype], parental and familial past performances, environmental factors, and intangible courage/heart factors. Of course, many have tried to condense performance into a formula, yet few have succeeded in even defining all of the variables or demonstrate consistent, formulaic success.

    According to research, however, the dominance of one sire and his descendants such as St. Simon or in the cases of extreme inbreeding such as practiced by M. Marcel Boussac may not represent true genetic bottlenecks of major importance or be able to cause jeopardy to diversity of the gene pool. They can have a more immediate effect on performance profiles of certain pedigrees both closely related to the bottleneck and more distant relatives. As inbreeding receeds into the past it becomes far less significant rapidly dropping into the range of background noise. Expression of performance traits is more likely to occur with inbreeding within six generations or middle distant inbreeding 6 - 10 generations than it is with far distant inbreeding. Far distant inbreeding forces are more likely to be usually matrilineal in origin [female-family related].

    Yet when a dominant patriline causes the distribution of patrilines within a population to bottleneck to any degree, usually the overdominance of the dominant patriline is eventually compensated to some degree through the subsequent rise of other patrilines that soon overtake the previously dominant patriline. Patrilines rise and fall in a wave-like manner [perhaps along the slopes of a normal curve].

    There are two inevitable irresistible general groups of genetic forces having distinctly different long term effect upon the Thoroughbred gene pool.. The forces that increase genetic diversity are heterozygous (outcrossing) they tend to dilute inheritance make it more variable over a wider range of traits, less predictable. The other forces are those that reinforce through narrowing the range of inheritance usually through inbreeding or through an outside catastrophic event that causes a genetic bottleneck (sudden elimination of a portion of the gene pool through catastrophy would cause a severe reduction of the gene pool, reducing diversity). Separately are the effects upon the mitochondrial DNA, maternal inheritance or femnale families. Here, reduction in female families has a long term adverse effect upon the gene pool and genetic diversity of the Thoeroughbred. Sire lines come and go in a wave-like effect lasting 4 6 generations and therefore are fugitive or impermanent. Dam lines are the true heart of the gene pool of the Thoroughbred. mtDNA is passed from mother to progeny through her ova, but since mtDNA resides in the cytoplasm of the female germ cell only through the daughters (female line) are they passed along to future generations of descendants. They are replicated not re-created and must be preserved – this is the true diversity of the Thoroughbred.

    St. Simon has had a profound influence on the modern Thoroughbred. As one of the most successful sire in the history of the breed, he and his progeny became so popular that his influence overwhelmed (suffocated) the gene pool of the breed - in my opinion, his genes gained a far greater share of the gene pool than might be otherwise healthy to the longevity of the breed. A type of genetic bottleneck or narrowing of the gene pool was established through the high frequency of his crosses (the same also applies to his sire, Galopin) appearing in modern Thoroughbreds. His and his descendants' popularity, disproportionately overwhelmed other bloodlines among breeders of the day and onto modern times. St. Simon is but one contributing factor to the overwhelming excess male inbreeding characterizing the genetic profile of the modern Thoroughbred.

    While lovers of Thoroughbred horses may decry the apparent lack of diversity in sires and/or sirelines at the elite level of the potential starters for the 2005 Vidaphone Epsom Derby, by no means are they similar in the choices of selective mating strategies made by their breeders. The individual mating strategies chosen vary significantly indicating a type of genetic diversity in spite of the similarities of patrilines. We see outcrossing [within six generations], inbreeding [within six generations], various opposite-sex inbreeding [toward specific ancestors, patriline reinforcement, pattern reinforcement]– all the strategies we in this forum believe in.

    I disagree with many of the conclusions of Rachel Pagones, bloodstock editor of the Racing Post and the author of the article, “Derby: It May Prove Best to Stick with Recent Form.” Pedigree analysis as a betting tool tends to work quite well when the selective mating patterns used for each horse as well as their family trees are included in handicapping competitors in elite races such as the Breeders’ Cup and international classic races.

    Narrowing of successful patrilines may represent a bit of a historical mini-bottleneck or it may indicate dominance. Demonstrable performance is a combination of genotype and phenotype interacting with various environmental factors and also includes a bit of luck. The “test of the winning post” as it always has been, should be the ultimate arbitrator of bloodline success or failure. Winners win and losers fail as it has always been. If the breeding farms incorporate proven selective breeding schemes they, their sires, and the bloodlines they favor will tend to dominate. In a meritocray one may choose to use any blood a breeder wishes, but can it win? Does Sadlers Wells, as with St. Simon, represent a form of a genetic bottleneck? – I don’t know for sure. Will the breed known as the Thoroughbred survive such peril to its genetic diversity? Unquestionably, yes! The scientific literature is full of such ruminations over breeds and species in far greater jeopardy than the Thoroughbred, yet extensive research from geneticists and molecular biologists tends to refute such fears.

    As pedigrees are examined, the breeder is quite puzzled to see obvious and pronounced pedigree patterns in some elite runners while also finding, equally obvious, heterozygous pedigrees with no internal patterns apparent within six generations. One is forced to conclude that both types; inbred and outbred pedigrees are equally capable of elite performance.

    I don’t think the apparent narrowing of successful bloodlines is cause for concern. There is a self-fullfilling nature to a meritocracy [prophesy at work in a meritocracy]– when the success of the ND / MrP cross saturates or overwhelms the overall gene pool, it will begin to fail to dominate. Other lines, perhaps some more heterozygous, will rise up to supersede [supplant, usurp] the previously dominant blood. All: horses, breeders, owners, trainers must supplicate to the Thoroughbred’s historical precedent– Vow allegiance to the test of the winning post or be forgotten.

What is the difference between a taxidermist and a tax collector? The taxidermist takes
only your skin.  Mark Twain - Notebook, 1902


    -Loren Bolinger