Abstract
Heterozygous variants in SOX10 cause congenital syndromes affecting pigmentation, digestion, hearing, and neural development, primarily attributable to failed differentiation or loss of non-skeletal neural crest derivatives. We report here an additional, previously undescribed requirement for Sox10 in bone mineralization. Neither crest- nor mesoderm-derived bones initiate mineralization on time in zebrafish sox10 mutants, despite normal osteoblast differentiation and matrix production. Mutants are deficient in the Trpv6+ ionocytes that take up calcium from the environment, resulting in severe calcium deficiency. As these ionocytes derive from ectoderm, not crest, we hypothesized that the primary defect resides in a separate organ that systemically regulates ionocyte numbers. RNA sequencing revealed significantly elevated stanniocalcin (Stc1a), an anti-hypercalcemic hormone, in sox10 mutants. Stc1a inhibits calcium uptake in fish by repressing trpv6 expression and Trpv6+ ionocyte proliferation. Epistasis assays confirm excess Stc1a as the proximate cause of the calcium deficit. The pronephros-derived glands that synthesize Stc1a interact with sox10+ cells, but these cells are missing in mutants. We conclude that sox10+ crest-derived cells non-autonomously limit Stc1a production to allow the inaugural wave of calcium uptake necessary to initiate bone mineralization.
Original language | English |
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Journal | Development (Cambridge, England) |
Volume | 152 |
Issue number | 2 |
Early online date | 20 Jan 2025 |
DOIs | |
Publication status | Published - 20 Jan 2025 |
Data Availability Statement
Raw and processed RNAseq files are available in NCBI Gene Expression Omnibus under accession number GSE283071.Acknowledgements
We are grateful to members of the Barske lab for helping with molecular biology experiments and imaging; Kristina Preusse and Benjamin Liou for assistance with mineral quantification; Evan Brooks and Samantha Brugmann for helping to set up Von Kossa and OsteoImage staining; Colin Kenny, Chunyue Yin, Claire Arrata, and Gage Crump for sharing fish lines; Flynn Littleton, Eric Alley and the CCHMC Division of Veterinary Services for fish care; the CCHMC Genomic Sequencing Facility for performing the bulk RNAseq; and Josh Gross, James Nichols, Jessica Nelson, and Rolf Stottmann for helpful discussions and/or manuscript suggestions.Funding
Funding for this project was provided to L.B. by the Center for Pediatric Genomics at Cincinnati Children's Hospital Medical Center and the Cincinnati Children's Research Foundation; funding for L.S. and K.C.S. was provided by the Biotechnology and Biological Sciences Research Council (grant BB/S015906/1 to R.K.). Open Access funding provided by the University of Cincinnati. Deposited in PMC for immediate release.
Funders | Funder number |
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Biotechnology and Biological Sciences Research Council | BB/S015906/1 |
Keywords
- Bone mineralization
- Calcium
- Neural crest
- Sox10
- Stanniocalcin
- Zebrafish
ASJC Scopus subject areas
- Molecular Biology
- Developmental Biology