title: Expression of the RSK2 gene during early human development.
abstract: The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. To investigate its possible role in cerebral cortex development, we performed RNA in situ hybridization at three stages of human development: day 32 (Carnegie 15), 9 weeks (Carnegie 23) and 13 weeks. RSK2 expression is detected in the embryonic anterior and posterior telencephalon (hippocampus anlagen), mesencephalon, rhombencephalon and cerebellum. RSK2 gene expression is also observed in dorsal root ganglia, cranial nerve ganglia, and sensory epithelium of the inner ear, liver, lung and jaw anlagen. This pattern of expression may be involved in cognitive impairment and facial dysmorphisms found in Coffin-Lowry Syndrome.
authors.affiliation: Neurogénétique, INSERM E9935 et Service de Biologie du Développement, Assistance Publique-Hopitaux de Paris, Hôpital Robert Debre', 48 Boulevard Sérurier, 75935 Paris Cedex 75019, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: André
authors.initials: A
authors.lastname: Hanauer
authors.forename: Michel
authors.initials: M
authors.lastname: Simonneau
mesh_terms: D002490:Central Nervous System / Q000196:embryology / Q000201:enzymology / Q000378:metabolism; D004622:Embryo, Mammalian / Q000196:embryology / Q000201:enzymology / Q000378:metabolism*; D005260:Female; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D017403:In Situ Hybridization; D007568:Jaw / Q000196:embryology / Q000201:enzymology / Q000378:metabolism; D008099:Liver / Q000196:embryology / Q000201:enzymology / Q000378:metabolism; D008168:Lung / Q000196:embryology / Q000201:enzymology / Q000378:metabolism; D008297:Male; D009475:Neurons, Afferent / Q000201:enzymology / Q000378:metabolism; D011247:Pregnancy; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*; D014722:Vestibule, Labyrinth / Q000196:embryology / Q000201:enzymology / Q000378:metabolism
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3