1. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
- Author
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Trivier, Elisabeth, De Cesare, Dario, Jacquot, Sylvie, Pannetier, Solange, Zackai, Elaine, Young, Ian, Mandel, Jean-Louis, Sassone-Corsi, Paolo, and Hanauer, Andre
- Subjects
Cellular signal transduction -- Research ,Protein kinases -- Observations ,Linkage (Genetics) -- Analysis ,X chromosome -- Abnormalities ,Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
The mutations in ribosomal S6 kinase (Rsk)-2 gene present on the X chromosome are responsible for the Coffin-Lowry syndrome (CLS). Rsk-2 is a growth factor regulated serine-threonine kinase. Screening of 76 patients of CLS, detected deletion, nonsense, missense and splice site mutations in the Rsk-2 gene. Ser 227 in Rsk-2 is involved in maximal enzyme activity through autophosphorylation of the enzyme. S6 kinase assay of mutated Rsk-2 protein gives negative result. These indicate that loss of Rsk-2 function cause defects in the MAPK/RSK signalling pathway and is responsible for CLS.
- Published
- 1996