The high resolution crystal structure of RSK2 in complex with LJH685 has also been solved in the same study.
This study aims to generate the first e-pharmacophore model for RSK2 and use it as a query for screening huge small molecule commercial compound collection (CoCoCo) database that consists of ca.
Protein crystal structure of RSK2 in complex with the LJH685 ligand having a resolution of 2.39 [Angstrom] was downloaded from protein databank (PDB ID: 4NUS) and prepared using the Protein Preparation Wizard (PrepWizard) in Maestro of Schrodinger software package (9).
The substrate location in the RSK2 protein structure was used to choose the center and size of the receptor grid using Schrodinger's Glide.
Se cree que este sindrome es causado por alteraciones en el gen RSK2, el cual codifica para una proteina cinasa (serina-treonina) que actua como factor regulador del crecimiento.
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
According to the most recent data (http://alsace.ustrasbg.fr/chimbio/diag/coffin/index.html), mutations in the RSK2 gene occur within all22 exons, except exon 2.
PCR primers (see Table S1 in the Data Supplement that accompanies the online version of this Technical Brief at http://www.clinchem.org/content/vol51/issue12) were designed by the software Vector NTI Advance[TM] (Invitrogen) to amplify all 22 exons and flanking intronic sequences of the RSK2 gene (Entrez Gene ID 6197).
Testing for this hypothesis, we investigated RSK2 expression in leukocyte RNA from this patient, using a pair of primers (forward primer, 5'GAACGAGAGGCCAGTGCTGT-3'; reverse primer, 5'CGCTCTCAGCTGTTTTGCAA-3') specific for the exonl7/18 junction.
It is likely that these alterations, as already reported for other RSK2 missense mutations (11,12), do not entirely impair the protein function.