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Detection of the pH-dependent Activity of Escherichia coli Chaperone HdeB In Vitro and In Vivo
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Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.
Jingru Qin1,2, Zulvikar Syambani Ulhaq1,3, William Ka Fai Tse1,2
1Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan.
Wires Mechanisms of Disease
|February 10, 2026
Summary
Nager syndrome, a rare congenital disorder, is caused by SF3B4 gene variants. This review explores how SF3B4 deficiency impacts neural crest cells and development across species.
Area of Science:
- Molecular and Cellular Physiology
- Genetics/Genomics/Epigenetics
- Stem Cells and Development
Background:
- Nager syndrome (NS) is a rare congenital disorder featuring mandibulofacial dysostosis and limb anomalies.
- Pathogenic variants in SF3B4, a gene encoding a spliceosomal component, are the primary genetic cause of NS.
Purpose of the Study:
- To review recent findings on how SF3B4 deficiency affects neural crest cell (NCC) biology and multi-tissue development.
- To elucidate the molecular mechanisms underlying NS pathogenesis using various model organisms.
Main Methods:
- Synthesis of data from cellular, zebrafish, Xenopus, and mouse models.
- Analysis of splicing abnormalities, oxidative stress, and p53 pathway activation in SF3B4 deficiency.
Main Results:
- SF3B4 loss causes widespread splicing defects, preferentially affecting AT-rich/GC-poor exons.
- Altered gene expression impacts NCC survival, migration, and lineage specification.
- Developmental abnormalities observed in craniofacial, cardiac, skeletal, and sensory systems.
Conclusions:
- SF3B4 is essential for coordinating early morphogenesis and NCC development.
- Cross-species models reveal conserved NCC vulnerabilities and model-specific phenotypes.
- Future research should focus on identifying SF3B4 targets and developing therapeutic strategies.
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