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Launch of New Mate Select Tool: EBVs (Estimated Breeding Values) ‘Single gene mutations’ (normal DNA tests) gene A ‘Affected’ ‘Clear’ Both copies of the gene are abnormal, and so an incorrect version of the protein is produced (or is not produced at all). The protein therefore either does not function, or does so less well than the normal copy, leading to disease. Both copies of the gene are normal variants, and so the protein is produced and functions as it should. ‘Carrier’ One normal variant and one abnormal variant. Half the protein produced functions normally. This is often enough and so no disease is apparent. However, the abnormal copy may be inherited by offspring. But what about complex conditions? • There could be several/many genes involved (multi-variant) • There could be “outside” influences (environmental factors) • Currently only assessing through “Schemes” – the best option up to now, but harder to predict risk Most traits (and diseases) are affected by multiple genes (often hundreds), each gene adding a small amount of increased or decreased risk. Each gene can have the 3 combinations of normal and abnormal copies as before Genetic variation A B C D So if we look at a sample of dogs we can see the number of different combinations. This produces genetic variation in the risk of disease. Thus we get a continuous spectrum of genetic risk, which is normally distributed (Bell curve – few at either end, more in the middle) E gene A gene B gene C gene D gene E Genetic risk We have the genetic variation in risk, which is fixed at conception for 5 dogs. But this risk is overlaid or modified by environmental influences on hip score. The rank on hip score is not the same as rank on genetic risk, but only the genes are passed onto the next generation… So, going from genes to disease (or in this case, hip score) Dougal Pluto Snoopy Muttley Gnasher in utero environment neo natal environment feed intake diet exercise 0 Pluto Dougal Gnasher Muttley Snoopy 106 ? ? ? ? ? Currently all we have to select on is the phenotype – the hip score. But we have already seen that this is not necessarily the most accurate indicator of the genetic risk. 0 Pluto Dougal Gnasher Muttley Snoopy 106 Overview of EBVs • EBVs have been used for many years in other species, and are “tried and tested” • In principle, you can make an EBV for anything that is measurable: complex conditions, size/shape, yields (i.e. milk in cows), etc. • 15 breeds with hip or hip and elbow: Akita, BMD, Bearded Collie, Border Collie, Eng. Setter, Flat Coated Retriever, Gordon Setter, GSD, Golden Retriever, Labrador, Newfoundland, Siberian Husky, Rottweiler, Rhodesian Ridgeback, Tibetan Terrier SNEAK PREVIEW! EBVs EBV stands for: Estimated Breeding Values They estimate the genetic risk of complex diseases EBVs are a more efficient way to estimate risk, and breed away from undesirable traits more quickly than by individual dog results (phenotypic) alone EBVs use Health Scheme data for calculation Benefits of EBVs to Dog Health and Breeders • More accurate assessment of a dog’s genetic risk • The lower the EBV, the better but there isn’t a need to seek out the very lowest EBV – selecting any animal with a lower risk EBV than average will apply selective pressure to improve hip scores faster than an individual hip score alone • More flexibility in choosing mates as the EBV measures genetic (heritable) risk, as opposed to the individual score, which measures the risk for that dog FAQs • Will a dog’s EBV ever change? – Yes. The genes are fixed, but the EBV estimate can change over time as more data becomes available. At birth, a puppy’s EBV is based on hip scores of parents and relatives, but as progeny are produced and tested, the EBV will increase in accuracy and may change. In addition, as the breed average is set to 0 on the risk bar, this will shift as the breed average improves. • End of hip/elbow scoring? – EBVs are a more effective way of using the information we already have: no more hip scores = no more EBVs – The best way to ensure good EBVs is to continue to score and use EBVs as the indicator of genetic risk in breeding plans – An individual dog’s hip score is still the only way to indicate the degree (or not) of dysplasia in that particular dog – Just as in DNA tests vs. the Eye Scheme, EBVs are an additional tool, not a replacement. Key Messages • People should aim to select a puppy with a lower risk EBV than average (the average being 0) • The EBVs have been prepared in 5 breeds for hips and elbows and 10 for hips only • EBVs need pedigree to work so this can only be done on KC registered dogs. • One third of the total number of dogs registered with the KC between 2000 and 2010 will now have hip EBVs, based on the dogs within the breeds that have been used to date. • EBVs are only available to those who have breeds who have up until now been tested. • EBVs will only be valuable/useable with continued testing • It is estimated that another 10-20 breeds could be added for hip scores and this will continue to increase as more breeds make use of health screening increases. • The future: Which other conditions can EBVs be generated for and which other breeds will benefit in the future? THANK YOU!