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Professor Completes Study Concerning Blindness in Horses

Tanya Brunner

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Published: Wednesday, April 9, 2008

Updated: Wednesday, July 23, 2008

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Soccer Bus Ride.

Just about anyone who has walked into Dr. Rebecca Bellone's office has little difficulty noticing her love for horses. Art pieces of horses adorn the walls and shelves of her workplace.

The Appaloosa, in particular, has a particularly special place in Bellone's life.

After finishing her B.S. at the University of Florida in 1996, Dr. Bellone, assistant professor of Biology at UT, began her dissertation work on the genetics of Appaloosa spotting at the University of Kentucky, completing her Ph.D. in 2001.

During her Ph.D. work she was able to rule out three candidate genes as being responsible for the main gene for Appaloosa spotting. During her first year at UT through collaborative efforts she mapped the gene that codes for the curious coat spotting in these horses, designated as Leopard Complex, to chromosome 1 of their genome.

More recently, Bellone's efforts have focused on investigating the candidate gene that is responsible for Congenital Stationary Night Blindness in Appaloosa horses (CSNB), totally eliminating their optic ability in the dark.

It is thought that CSNB is associated with the Leopard Complex gene.

CSNB occurs in other horse breeds but manifests as a different form than that found in the Appaloosa.

Research published last year found that horses with identical alleles for the LP trait are the ones in which CSNB develops.

One goal of the project is the development of a DNA test that horse breeders can use to identify which of their horses have the allele that codes for night blindness and Appaloosa coat spotting.

A former UT graduate, Kaitlyn Duke is currently assisting with these efforts.

The blindness can be easily managed if breeders know which of their animals are afflicted by it.

Such information is vital to putting breeders in a position where they can make informed decisions about managing this condition in their horses.

The possibility of gene therapy looms in the distance and is plausible once scientists like Bellone get a very good understanding of the molecular source of this health condition.

In a related project overseen by Dr. Bellone, Jacqueline Ahn, a UT biology and pre-med sophomore, is conducting genetic research on Rocky Mountain horses.

Jacqueline was awarded an Honors fellowship last year for her project that seeks to map the gene for anterior segment dysgenesis (ASD) that causes horses to have cysts on their eyes and other associated ocular abnormalities.

Similar to the link between Appaloosa spotting and CSNB, there appears to be a connection between ASD and another coat color in horses known as silver dapple. This connection is what Jacqueline is currently investigating.

Both of these aforementioned projectes are collaboarative efforts and are being funded by L. David Dube and Heather Ryan Veterinary Health Research Fund.

Bellone's main collaborators are Sheila Archer, an independent researcher, and Dr. Lynne Sandmeyer, Dr. Bruce Grahn, and Dr. George Forsyth from the University of Saskatchewan.