Abstract
Functional Consequences of Mutations in CDKL5, an X-linked Gene Involved in Infantile Spasms and Mental Retardation
Highlights
X-linked cyclin-dependent kinase-like 5 (CDKL5,3 previously named STK9) was originally identified in a transcriptional mapping project focused on the human chromosome Xp22.3
The importance of CDKL5 in early onset seizures and severe mental retardation in females has been further reinforced by five recent reports linking mutations in CDKL5 to patients with Rett syndrome but only in those affected by a variant form characterized by seizure onset before 6 months of age (4 – 8)
The similar Rett phenotypes in patients carrying mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2) and CDKL5, together with recent reports demonstrating the importance of MeCP2 phosphorylation for selective binding to DNA (10), opened the possibility that the two proteins might operate in a common developmental pathway
Summary
X-linked cyclin-dependent kinase-like 5 (CDKL5,3 previously named STK9) was originally identified in a transcriptional mapping project focused on the human chromosome Xp22.3-. Whereas wild-type CDKL5 autophosphorylates and mediates the phosphorylation of the methyl-CpG-binding protein 2 (MeCP2) in vitro, Rett-mutated proteins show both impaired and increased catalytic activity suggesting that a tight regulation of CDKL5 is required for correct brain functions.
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