1. Fragile X syndrome, the most common form of inherited mental retardation, is caused by the lack or dysfunction of fragile X mental retardation protein (FMRP). The I304N mutation in the RNA-binding domain of FMRP results in an exceptionally severe form of mental retardation. 2. We have investigated the subcellular localization of FMRP and its I304N-mutated form in cultured hippocampal neurons and PC12 cells, using immunofluorescence microscopy. In PC12 cells, FMRP was predominantly localized to the cytoplasm and also to the processes after differentiation by NGF. 3. In cultured hippocampal neurons, granular labeling was detected along the neuronal processes. 4. Double-labeling with synaptophysin antibody revealed FMRP at synaptic sites in neurons. 5. The I304N mutation did not appear to affect the transport of FMRP to dendrites or its localization at synaptic sites. Thus, FMRP is a synaptic protein and the severe phenotype observed in the patient with the I304N mutation is not produced by alterations in dendritic transport.

Item Type:	Refereed Article
Research Division:	Medical and Health Sciences
Research Group:	Neurosciences
Research Field:	Central Nervous System
Objective Division:	Health
Objective Group:	Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:	Nervous System and Disorders
Author:	Saunders, NR (Professor Norman Saunders)
Author:	Knott, GW (Dr Graham Knott)
Author:	Dziegielewska, KM (Dr Kate Dziegielewska)
ID Code:	19737
Year Published:	2000
Web of Science® Times Cited:	10
Deposited By:	Anatomy and Physiology
Deposited On:	2000-08-01
Last Modified:	2001-03-20
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