A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep.

ABSTRACT:

Background

Segmental axonopathy is a recessively inherited neurodegenerative disorder that has affected Merino sheep since the early 1930s. Despite its long-standing recognition, the genetic basis of the condition remained unknown. This study aimed to identify the genetic cause of segmental axonopathy and confirm its pathological features to improve diagnostic accuracy and inform breeding strategies.

Results

Whole genome sequencing and genotyping of affected and unaffected Merino sheep identified a novel homozygous frameshift variant in the ALS2 gene that segregated with disease. RNA sequencing of cerebellar peduncle tissue confirmed the nonsense consequence on the ALS2 transcript. Histological analysis highlighted the hallmarks of the disease as large, foamy eosinophilic ax

SUBMITTER: Eager KLM 

PROVIDER: S-EPMC12551161 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature