Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

Article Abstract:

Coffin-Lowry syndrome (CLS), an X-linked disorder characterized by severe psychomootor retardation and diagnostic features involving the skeleton, is discussed with information gained from use of a positional cloning approach that showed mutations in the gene coding for the RSK2 serine-threonine protein kinase bring on the syndrome. The screening of thirty-seven patients with clinical features that suggest CLS, screening which found 25 nucleotide changes likely to cause disease and a very high rate of de novo mutations, is covered.

France, Usage, Chromosome mapping, Genetic disorders, Mental retardation

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ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology: implication for Coffin-Lowry syndrome

Article Abstract:

A study showing that RSK2, a gene mutated in Coffin-Lowry syndrome (CLS) is required for osteoblast differentiation and function with genetic evidence, proving that ATF4 is a substrate of RSK2 in osteoblasts and regulates several aspects of osteoblast biology is presented. The findings identify ATF4 as a critical regulator of osteoblast biology, indicating that lack of ATF4 phosphorylation by RSK2 may contribute to the skeletal phenotype of CLS.

Research and Development in the Physical, Engineering, and Life Sciences, Cellular Biology, Analysis, Cytology, Substrates

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SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

Article Abstract:

Satb2, encoding a nuclear matrix protein, is expressed in branchial arches and in cells of the osteoblast lineage. Studies found that Satb2 mice exhibit both craniofacial abnormalities that resemble those observed in humans carrying a translocation in SATB2 and defects in osteoblast differentiation and function.

Science & research, Translocation (Genetics), Genetic research, Genetic code, Translocations (Genetics), Craniofacial abnormalities

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