Annie Pan | PhD Candidate
Faculty of Veterinary Science
RMC Gunn Building B19
The University of Sydney NSW 2006
BSc (Biotechnology), MPhil (Science)
Integrated genomic analysis of inherited canine disorders
About the project
The project is about identifying the molecular cause and mechanism that causes cerebellar abiotrophy (CA, ataxia) in Australian Kelpies. This involves searching for sequence difference/s that is (are) only present in the genome of Kelpies affected with CA. In other words, it is like looking for a needle in the haystack. Luckily, with the introduction of affordable high throughput next-generation sequencing platforms means a large amount of sequence data can be generated from multiple dogs in a matter of weeks, and these platforms may present an easier and faster way to uncover the genetic differences between affected and unaffected Kelpies.
CA is an example of autosomal recessive disorder in dogs that spread because they are not diagnosed in a timely fashion. CA in Kelpies was first reported by an Australian geneticist, Dr. Don Robertson in 1987 and was published in the Australian Veterinary Journal in 1989 . The main clinical sign is ataxia, characterised by poor body coordination, head tremors and a high stepping gait [1,2]. Ataxia may become apparent as early as five to seven weeks of age in severely affected dogs, but may not develop until twelve weeks of age in milder cases . The disease progression is slow.
The ultimate outcome of this project is to develop a reliable genetic carrier test that would allow breeders to identify CA carriers and so avoid the production of affected pups (since there is no therapeutic treatment for this disorder). In the future, once the genetic basis of CA in Kelpies is identified, it may provide a basis for investigating similar disorders in other breeds and species.
- Thomas JB. & Robertson D. (1989). Hereditary cerebellar abiotrophy in Australian kelpie dogs. Australian Veterinary Journal. 66, 301-2.
- Shearman JR., Lau VM. & Wilton AN. (2008). Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Animal Genetics. 39, 573.
- Shearman JR., Cook RW., McCowan C., Fletcher JL., Taylor RM. & Wilton AN. (2011). Mapping cerebellar abiotrophy in Australian Kelpies. Animal Genetics. 42, 675-678.
Pan AYH., Wilton AN., Shearman JR., Delaney SK. & Zangerl B. (2012). Investigation of DNA polymorphisms linked to cerebellar abiotrophy in Australian kelpie dogs. International Society for Animal Genetics (ISAG) Conference Proceedings.