Fragile X mental retardation protein

Mazroui, R., Huot, M. E., Tremblay, S., Filion, C., Labelle, Y., and Khandjian, E. W. (2002). Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression. Hum. Mol. Genet. 11, 3007—3017. 

Zalfa, F. and Bagni, C. Molecular insights into mental retardation multiple functions for the Fragile X mental retardation protein Curr. Issues Mol. Biol. 6 73-88, 2004. 

Fragile X syndrome has some things in common with Hnntington s disease. The genetic defect is in the FMRl (Fragile X mental retardation 1) gene. The affected protein is FMRP (Fragile X mental retardation protein). 

Eberhart DE, Malter HE, Feng Y, et al. The fragile X mental retardation protein is a ribonucleopro-tein containing both nuclear localization and nuclear export signals. Hum Mol Genet 5 1083-1091,1996. 

Reeve SP, Bassetto L, Genova GK, Kleyner Y, Leyssen M, Jackson FR, Hassan BA (2005) The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain. CurrBiol 15 1156-1163... 

Larson J, Jessen RE, Kim D, Fine AK, du Hoffmann J. 2005. Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. J Neurosd 25 9460-9469. (Recent study using the LTP protocol in the APC slice)... 

A. A complete loss of fragile X mental retardation protein (FMRP)... 

Translational control by 3 end binding is often used in developmental processes to inactivate a specific mRNA at certain developmental stages. Examples are the Pumilio protein (review Parisi and Lin, 2000) and the fragile X mental retardation protein (review Kaytor and Orr, 2001) which are sequence-specific RNA binding proteins that bind to short RNA motifs at the 3-end of specific mRNA thereby inhibiting mRNA translation. 

Valverde R, Pozdnyakova I, Kajander T, Venkatraman J, Regan L. Fragile X mental retardation syndrome stmcture of the KH1-KH2 domains of fragile X mental retardation protein structure. 2007 15 1090-1098. 

Darnell JC, Fraser CE, Mostovetsky O, Darnell RB. Discrimination of common and unique RNA-binding activities among fragile X mental retardation protein paralogs. Hum Mol Genet 2009 18 3164-77. 

Mutations in the fragile-X gene (FMRl), which encodes a protein containing a KH RNA-blndlng motif, are associated with the most common form of heritable mental retardation. Recent results indicate that the FMRl protein is a subunit of human RISC complexes. 

---