Molecular analysis of synapsin I, a candidate gene for Rett syndrome
Biochemistry & Molecular Pharmacology
Graduate School of Biomedical Sciences; Department of Neurology and Cell Biology
Medical Subject Headings
Amino Acid Sequence; Animals; Base Sequence; Brain Diseases; DNA; Female; Humans; Mental Retardation; Molecular Sequence Data; Nerve Tissue Proteins; Rats; Synapsins; Syndrome; X Chromosome
Life Sciences | Medicine and Health Sciences
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.
Rights and Permissions
Citation: Brain Dev. 1987;9(5):469-74.
Brain and development
DeGennaro, Louis J.; McCaffery, Cheryl A.; Kirchgessner, Cordula U.; Yang-Feng, Teresa L.; and Francke, Uta, "Molecular analysis of synapsin I, a candidate gene for Rett syndrome" (1987). GSBS Student Publications. 266.