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Progress Report on Research into CA in Kelpies by Alan Wilton and Jeremy Shearman at UNSW.

In the Progress report in April on the research into cerebellar abiotrophy that causes ataxia in kelpies, we had concluded that our initial analysis had lead to some false leads. After a lot of double checking of results and eliminating some false positive ataxic dogs, Jeremy has confirmed the CA gene in kelpies IS actually in the region we originally indicated in the National Dog article in December 2007, which is on dog chromosome 3.

There were no obvious ataxia genes among the 44 genes in the region. We are looking at methods to examine the whole 6 million bases in one go using new technology.

In the meantime, Jeremy has found a gene in the region that is involved in ataxia in mice and he is currently checking that gene in the affected kelpies for mutations before we spend the money to have the whole region sequenced.

This project is the first time we have used the SNP technology and it has meant a steep learning curve. The major delay has been cleaning up our data. We had to recheck the diagnosis for all the samples we had listed as CA affected and revise it. We had to look at all 127,000 SNP results individually for the dogs tested to makes sure the data we were analysing was of high quality. This is all completed and we believe we are closing in on the mutation, but we cannot tell how long it will take to find. If we are lucky it might be obvious and we will find it quickly.

In the meantime, we will look at markers in the surrounding region to see if we can develop a surrogate test that will identify the chromosome with the disease gene even without testing the disease gene itself. This type of test is not as reliable as mutation testing and has some patent issues to be negotiated but may be a temporary measure for testing suspect lines until the mutation is found.

We appreciate the support from the Working Kelpie Council for this research. It would not be possible to do it without the cooperation of the Council and the breeders. The donation from Terry Snow has made the use of the SNP technology possible which has allowed us to find the location of the gene in such a short time. Progress has been slower than we had hoped but the outlook is promising.

Alan Wilton