A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep
This study identifies a novel ALS2 frameshift variant associated with segmental axonopathy in Merino sheep and provides both genetic and histological evidence supporting its role in disease pathology. The development of a DNA diagnostic test will enable more informed breeding decisions, reduce the prevalence of this condition, and improve animal welfare and productivity in the Merino industry. Moreover, the findings offer a potential large-animal model for exploring early-onset forms of human motor neuron diseases, including amyotrophic lateral sclerosis, in which ALS2 variants are implicated.
Authors
- Matt Littlejohn
- Klaus Lehnert (ORCID: https://orcid.org/0000-0003-4598-4966)
- Russell G. Snell (ORCID: https://orcid.org/0000-0002-8166-4014)
- Natasha E. Mckean
- Leah K. Manning (ORCID: https://orcid.org/0000-0002-1609-4772)
- Imke Tammen (ORCID: https://orcid.org/0000-0002-5520-6597)
- NW Sneddon (ORCID: https://orcid.org/0000-0001-9704-1287)
- Keren E. Dittmer (ORCID: https://orcid.org/0000-0002-1813-2197)
- Cali E. Willet (ORCID: https://orcid.org/0000-0001-8449-1502)
- Brendon A. O’Rourke (ORCID: https://orcid.org/0000-0001-6959-9398)
- Katie L. M. Eager (ORCID: https://orcid.org/0000-0002-8249-634X)
- R.D. Jolly
Institutions
- The University of Sydney (AU)
- University of Auckland (NZ)
- New South Wales Department of Primary Industries (AU)
- Massey University (NZ)
Publication Details
- Journal
- Genetics Selection Evolution
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1186/s12711-025-01005-w
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Massey University
- Department of Primary Industries and Regional Development, Government of Western Australia