Nature (London), 1996-12, Vol.384 (6609), p.567-570
1996
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- Autor(en) / Beteiligte
- Titel
- Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
- Ist Teil von
- Nature (London), 1996-12, Vol.384 (6609), p.567-570
- Ort / Verlag
- London: Nature Publishing
- Erscheinungsjahr
- 1996
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. Genetic linkage analysis mapped the CLS locus to an interval of 2-3 megabases at Xp22.2. The gene coding for Rsk-2, a member of the growth-factor-regulated protein kinases, maps within the candidate interval, and was tested as a candidate gene for CLS. Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. The two missenses affect sites critical for the function of Rsk-2. The mutated Rsk-2 proteins were found to be inactive in a S6 kinase assay. These findings provide direct evidence that abnormalities in the MAPK/RSK signalling pathway cause Coffin-Lowry syndrome.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-0836eISSN: 1476-4687DOI: 10.1038/384567a0Titel-ID: cdi_proquest_miscellaneous_78609786
- Format
- –
- Schlagworte
- Abnormalities, Multiple - enzymology, Abnormalities, Multiple - genetics, Amino Acid Sequence, Base Sequence, Biological and medical sciences, Biology, Cell Line, Chromosome Mapping, Diseases of the osteoarticular system, Female, Frameshift Mutation, Genetics, Humans, Intellectual Disability - enzymology, Intellectual Disability - genetics, Male, Malformations and congenital and or hereditary diseases involving bones. Joint deformations, Medical disorders, Medical sciences, Molecular Sequence Data, Mutation, Phosphorylation, Point Mutation, Polymorphism, Single-Stranded Conformational, Protein-Serine-Threonine Kinases - deficiency, Protein-Serine-Threonine Kinases - genetics, Protein-Serine-Threonine Kinases - metabolism, Proteins, Ribosomal Protein S6, Ribosomal Protein S6 Kinases, Ribosomal Proteins - metabolism, Sex Chromosome Aberrations - enzymology, Sex Chromosome Aberrations - genetics, Signal Transduction, X Chromosome