FAM161A SINE Insertion Associated with Canine Progressive Retinal Atrophy

A genome-wide association study of 22 Tibetan Spaniel PRA cases and 10 controls identified a novel locus and a SINE insertion in the FAM161A gene. The mutation segregates with the disease in 63% of tested cases and was also found in Tibetan Terriers. The dataset likely contains genetic association results and variant data from the research conducted by Louise M Downs of the Animal Health Trust.

Use Cases

• Identify genetic markers for Progressive Retinal Atrophy based on the described SINE insertion in FAM161A.
• Study exon-skipping mechanisms and frame-shift mutations using the mRNA analysis results mentioned.
• Investigate genetic heterogeneity of PRA across dog breeds based on the finding that the condition is heterogeneous in Tibetan Spaniels and Terriers.

Strengths

• Association analysis includes 22 cases and 10 controls, with a reported genome-wide significant p-value (p_genome = 0.014).
• Mutation segregation data is provided for 35 tested cases, showing 63% association.

Limitations

• Row count and column-level documentation are unknown; field semantics must be inferred after download.
• The dataset's freshness is unverified as the last update date is unknown.
• The sample size for the primary association study is relatively small (32 dogs).

Provenance

Source

Animal Health Trust

Collection Method

Genome-wide association study and targeted next-generation sequencing, as described in the paper.