Deletion of a <i>Pax1</i> Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice
Background: which is significantly associated with female AIS risk. Methods: -SARΔ). Spines were examined by both micro-CT and histology. Gene expression analysis (by RNA-sequencing and quantitative PCR) was carried out on E12.5 and E18.5 developing spines. Glycosaminoglycan (GAG) content was also measured by high-performance liquid chromatography. Results: , while RNA-sequencing at E18.5 revealed sex-dependent changes in gene expression related to extracellular matrix components, immune and inflammatory responses, and scoliosis. Conclusion: sex-associated genomic region in the development and maintenance of functional cartilage, extracellular matrix integrity, and intervertebral disc health, offering insights into the mechanisms underlying spinal degeneration and instability in AIS.
Authors
- Shuji Mizumoto (ORCID: https://orcid.org/0000-0002-4641-1505)
- Emma M. Wade (ORCID: https://orcid.org/0000-0003-2990-0232)
- Megan J. Wilson (ORCID: https://orcid.org/0000-0003-3425-5071)
- Edward C. Moody
- Jeremy McCallum‐Loudeac
Institutions
- Dunedin Public Hospital (NZ)
- University of Otago (NZ)
- Meijo University (JP)
Publication Details
- Journal
- JOR Spine
- Published
- 2026-04-22
- DOI
- https://doi.org/10.1002/jsp2.70177
- Primary Topic
- Scoliosis diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Society for the Promotion of Science