Identifying the Gene for Hereditary Canine Spinal Muscular Atrophy in Brittany Spaniels

Mentors: Noriko Tonomura, Katie Larkin, and Howard Rafal

Over recent history, breeding dogs for specific traits caused certain diseases to become prevalent within specific dog breeds. Tania’s goal was to determine the gene associated with hereditary canine spinal muscular atrophy (SMA). Mutations in “survival of motor neuron” genes 1 and 2 (SMN1 and SMN2) cause Survival of Motor Neuron Spinal Muscular Atrophy (SMN-SMA) in humans, but these genes do not appear to be associated with the canine disease.

Through a prior genome-wide study, Tania’s mentor identified a region on chromosome 13 to be of interest in canine SMA. To narrow down the region further, Tania isolated and prepared DNA from numerous dogs with and without the disease. She then analyzed the region of interest on chromosome 13, in these DNA samples, by both Illumina sequencing and Sequenom genotyping of 475 specific sites. These analyses revealed 15 top candidates of sites in the DNA that are in evolutionarily conserved regions, and are correlated with presence or absence of the canine disease. This work narrowed the region of interest down from 4Mb to only 850kb of DNA.



Tania, a senior at Somerville High School, pinpointed the region of DNA responsible for the disease Hereditary Canine Spinal Muscular Atrophy, which affects dogs of the Britanny Spaniel breed.