Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain. Fragile X mental retardation protein deletion in mice enhances metabotropic glutamate receptor-5-dependent long-term depression in the hippocampus and cerebellum. Here we show that ...

Models of evolution by genome rearrangements are prone to two types of flaws: One is to ignore the diversity of susceptibility to breakage across genomic regions, and the other is to suppose that susceptibility values are given. Without necessarily supposing their precise localization, we call "solid" the regions that are improbably broken by rearrangements and "fragile" the regions outside sol...

Fragile X syndrome is caused by the functional loss of the fragile X mental retardation 1 (FMR1) gene. D eletion of the FMR1 ortholog in D rosophila melanogaster (Fmr1) recapitulates many phenotypes associated w ith fragile X syndrome. W e have discovered that Fmr1 mutant D rosophila die during development when reared on food containing increased levels of glutamate, w hich is consistent w ith ...

OBJECTIVE To examine longitudinally the adaptive behavior patterns in fragile X syndrome. METHOD Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2-18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS Standard scores of adaptive be...

The fragile X syndrome is an X linked, semidominant mental retardation disorder caused by the amplification of a CGG repeat in the 5' UTR of the FMR1 gene. Nineteen fragile X families in which the mutated FMR1 gene segregated were evaluated. The implications of the diagnosis for the parents and family were studied through pedigree information, interviews, and questionnaires. Information about t...

The human FHIT gene is a putative tumor suppressor gene that maps to human chromosome band 3p14.2 in a region that is frequently deleted in cancers. It exhibits both genomic deletions and aberrant transcripts in a variety of tumors and spans the common fragile site FRA3B. This fragile site extends over a broad region of several hundred kb within the FHIT gene and may account for its instability...

Techniques to establish the authenticity and integrity of digital images are becoming increasly essential over the Intermet. The authentication algorithm should distinguish malicious manipulations from the original watermarked image[1]. Fragile watermarking is recomended for a very sensible image authentication scheme, able to localize the slightest changes occured to the marked image. The frag...

PURPOSE OF REVIEW Fragile X syndrome is the most common form of inherited intellectual disability. Over the past 2 decades, insights into the cause of this disease have increased tremendously. This review will highlight recent discoveries with an emphasis on biochemical pathways affected in the disorder that are potentially amenable to treatment. RECENT FINDINGS Recent work in the field demon...