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RSK2 is a modulator of craniofacial development
Virginie Laugel-Haushalter1, Marie Paschaki1, Pauline Marangoni2
1Institute of Genetics and Molecular and Cellular Biology (IGBMC), Centre National de la Recherche Scientifique (UMR 7104), Institut National de la Santé et de la Recherche Médicale (U 964), University of Strasbourg, Illkirch, France.
Plos One
|January 14, 2014
Summary
RSK2 gene mutations cause Coffin-Lowry syndrome, leading to craniofacial and dental abnormalities. This study in mice reveals RSK2
Area of Science:
- Genetics
- Developmental Biology
- Craniofacial Biology
Background:
- Coffin-Lowry syndrome is an X-linked dominant disorder caused by RSK2 gene mutations.
- It is characterized by mental retardation, skeletal growth delays, and craniofacial/digital abnormalities.
- Craniofacial and dental anomalies in this syndrome are poorly understood.
Purpose of the Study:
- To investigate the role of RSK2 in craniofacial and dental development.
- To characterize craniofacial and dental anomalies in a mouse model of Coffin-Lowry syndrome.
Main Methods:
- X-ray microtomographic analysis of Rsk2 knockout mice and triple Rsk1,2,3 knockout mutants.
- Expression analysis of Rsk genes during odontogenesis in wild-type mice.
- Comparative transcriptomic analysis and shRNA knock-down in cultured molar tooth germs.
Main Results:
- RSK2 mutations in mice resulted in supernumerary teeth and abnormal molar shape.
- RSK2 is expressed in proliferative areas of developing teeth, suggesting a role in cell cycle control.
- Transcriptomic analysis revealed misregulation of critical genes involved in tooth development.
Conclusions:
- RSK2 plays a crucial role in regulating craniofacial and tooth development.
- Novel transcriptional targets of RSK2 involved in patterning have been identified.
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