HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsFabien Guimiot, Anne-Lise Delezoide, André Hanauer, Michel Simonneau
JournalGene expression patterns : GEP (Gene Expr Patterns) Vol. 4 Issue 1 Pg. 111-4 (Jan 2004) ISSN: 1567-133X [Print] Netherlands
PMID14678837 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3
Topics
  • Central Nervous System (embryology, enzymology, metabolism)
  • Embryo, Mammalian (embryology, enzymology, metabolism)
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Developmental
  • Gene Expression Regulation, Enzymologic
  • Humans
  • In Situ Hybridization
  • Jaw (embryology, enzymology, metabolism)
  • Liver (embryology, enzymology, metabolism)
  • Lung (embryology, enzymology, metabolism)
  • Male
  • Neurons, Afferent (enzymology, metabolism)
  • Pregnancy
  • Ribosomal Protein S6 Kinases, 90-kDa (genetics)
  • Vestibule, Labyrinth (embryology, enzymology, metabolism)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: