Molecular analysis of synapsin I, a candidate gene for Rett syndrome.
The characteristics of Rett syndrome suggest that it is an X-linked neurodegenerative disorder. Laboratory investigations to date have not revealed any metabolic abnormalities in affected individuals. Synapsin I is a neuron-specific protein thought to play a fundamental role in neuronal function. In this report we summarize the circumstantial evidence suggesting that a defect in synapsin I gene structure or expression might be involved in Rett syndrome. This evidence includes analysis of structural and functional aspects of synapsin I primary structure, characterization of synapsin I messenger RNAs, location of the synapsin I gene on the human X chromosome and preliminary analysis of synapsin I gene structure in Rett individuals.
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051381:Rats; D016704:Synapsins; D013577:Syndrome; D014960:X Chromosome / Q000032:analysis
D009419:Nerve Tissue Proteins; D016704:Synapsins; D004247:DNA