[Fragile X syndrome: a model of gene-brain-behaviour relationships].
BACKGROUND
Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations.


METHODS
This paper will review our knowledge of the regulation of FMR1 gene expression and the genotype-phenotype relationships. The clinical variability is related to several factors including: 1) molecular variations at FMR1 leading to a range of FMRP levels, 2) the combined effect of background genes interacting directly or indirectly with FMRP, 3) environmental factors which can either enhance or impede development and the degree of dysfunction which ensues.


CONCLUSIONS
Advances in neuroimaging, neurosciences, and knockout mice further our understanding of the gene-brain-behavior relationships in Fragile X Syndrome.
Hagerman
R J
RJ
M.I.N.D. Institute and Department of Pediatrics, University of California, Davis Medical Center, Sacramento, California, USA. randi.hagerman@ucdmc.ucdavis.edu
Hagerman
P J
PJ
D000818:Animals; D001519:Behavior / Q000502:physiology*; D001921:Brain / Q000502:physiology*; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000503:physiopathology*; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism*
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse