Related Experiment Video
Updated: Jul 27, 2026
10:06
High Resolution Whole Mount In Situ Hybridization within Zebrafish Embryos to Study Gene Expression and Function
Published on: October 19, 2013
Expression of the RSK2 gene during early human development
Fabien Guimiot1, Anne-Lise Delezoide, André Hanauer
1Neurogénétique, INSERM E9935 et Service de Biologie du Développement, Assistance Publique-Hopitaux de Paris, Hôpital Robert Debre', 48 Boulevard Sérurier, 75935 Paris Cedex 75019, France.
Gene Expression Patterns : GEP
|December 18, 2003
Summary
The 90 kDa ribosomal S6 serine/threonine kinase 2 (RSK2) gene is linked to Coffin-Lowry Syndrome. RSK2 expression in the developing brain suggests a role in cognitive impairment and facial features associated with the disorder.
Area of Science:
- Developmental Biology
- Genetics
- Neuroscience
Background:
- The 90 kDa ribosomal S6 serine/threonine kinase 2 (RSK2) gene is identified as a cause of Coffin-Lowry Syndrome, an X-linked disorder.
- Coffin-Lowry Syndrome is characterized by severe intellectual disability, distinctive facial features, and skeletal abnormalities.
Purpose of the Study:
- To investigate the role of RSK2 in human cerebral cortex development.
- To examine the expression pattern of the RSK2 gene during early human embryonic development.
Main Methods:
- RNA in situ hybridization was employed to detect RSK2 gene expression.
- Analysis was performed at three distinct stages of human development: day 32, 9 weeks, and 13 weeks.
Main Results:
- RSK2 expression was observed in various embryonic brain regions, including the telencephalon, mesencephalon, rhombencephalon, and cerebellum.
- Expression was also detected in developing sensory organs (inner ear ganglia), cranial nerve ganglia, and precursor tissues for the liver, lung, and jaw.
Conclusions:
- The widespread expression of RSK2 in the developing central nervous system and craniofacial structures supports its potential involvement in the pathogenesis of Coffin-Lowry Syndrome.
- The observed expression pattern may explain the cognitive impairment and facial dysmorphisms characteristic of the syndrome.
