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.

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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

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article

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

Shuji Mizumoto, Emma M. Wade, Megan J. Wilson, Edward C. Moody et al.
JOR Spine
Scoliosis diagnosis and treatment
article

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

Shuji Mizumoto, Emma M. Wade, Megan J. Wilson, Edward C. Moody, Jeremy McCallum‐Loudeac
article en

Abstract

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.

JOR SpineVol. 9(2)
Dunedin Public Hospital (NZ), University of Otago (NZ), Meijo University (JP)
Japan Society for the Promotion of Science
Gender equality
Openalex Percentile: Top 9%
Scoliosis diagnosis and treatment
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