Understanding fragile X syndrome: insights from retarded flies.
Fragile X syndrome, the most common form of inherited mental retardation, is caused by loss-of-function mutations in the fragile X mental retardation 1 (fmr1) gene. FMR1 is an RNA binding protein that is highly expressed in neurons of the central nervous system. Recent studies in Drosophila indicate that FMR1 plays an important role in synaptogenesis and axonal arborization, which may underlie the observed deficits in flight ability and circadian behavior of fmr1 mutant flies. The relevance of these studies to our understanding of fragile X syndrome is discussed.
Gao
Fen-Biao
FB
Gladstone Institute of Neurological Disease and Department of Neurology, University of California, San Francisco, San Francisco, CA 94141, USA. fgao@gladstone.ucsf.edu
D000818:Animals; D004330:Drosophila / Q000737:chemistry / Q000235:genetics; D029721:Drosophila Proteins / Q000172:deficiency / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000378:metabolism; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics; D016601:RNA-Binding Proteins; D017385:Sequence Homology
D029721:Drosophila Proteins; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins