Protein-protein interactions is a component of the rapid development of bioinfomatics within BABS which is being fostered, with others, by Professor Marc Wilkins.
Ceroid Lipofuscinosis
Ceroid lipofuscinosis (CL) is a lysosomal storage disease that leads to nerve degeneration that eventually results in behavourial changes, motor difficulties and blindness. This disease was common in border collie dogs from Australian and New Zealand pedigrees. CL was a major problem for breeders because it has a late onset, and is a slowly progressing, inevitable wasting disease tha twas widespread. Testing of candidate genes identified a single base change in the CLN5 gene that results in a shortened protein as causing all but one known case of CL in border collies. DNA testing made available through our lab at UNSW and collaborators, Optigen in US and JBCHN (Japan Border Collie Health Network) has allowed breeders to reduce the incidence of carriers and prevent crosses that would produce affected offspring. Rare cases of CL are being identified still in 2009 in Australia, mainly bred by new breeders that are unaware of the problems and the easy DNA testing solution.
CL is a recessive disorder and affected dogs can arise from crossing two carriers of the genetic defect that will be without any evidence of disease, but which can be detected by DNA testing.
More information is available at Border Collie Club websites such as Border Collie Club of NSW . Some testing results are available at www.bordercolliehealth.com.
The identification of the gene for CL was part of the PhD research of Dr Scott Melville. It was funded by donations from Border Collie Clubs, private individuals, grants from Canine Research Foundation, and Australian Government SPIRT grants.
Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN. (2005). A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics. 86: 287-294