科研之友
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摘要
Genomic diseases or syndromes with multiple manifestations arise spontaneously and unpredict-ably as a result of contiguous deletions and duplications generated by unequal recombination in chromosomal regions with a specific architecture. The Williams syndrome is believed to be one of the most attractive models for linking genes, the brain, behavior and cognitive functions. It is a neurogenetic disorder resulting from a 1.5 Mb deletion at 7q11.23 which covers more than 20 genes; the hemizigosity of these genes leads to multiple mani-festations, with the behavioral ones comprising three distinct domains: 1) visuo-spatial orientation; 2) verbal and linguistic defect; and 3) hypersocialisation. The shortest observed deletion leads to hemizigosity in only two genes: eln and limk1. Therefore, the first gene is supposed to be responsible for cardiovascular pathology; and the second one, for cognitive pathology. Since cognitive pathology diminishes with a patient%26apos;s age, the original idea of the crucial role of genes straightforwardly determining the brain%26apos;s morphology and behavior was substituted by ideas of the brain%26apos;s plasticity and the necessity of finding epigenetic factors that affect brain development and the functions manifested as behavioral changes. Recently, non-coding microRNAs ( miRs) began to be considered as the main players in these epigenetic events. This review tackles the following problems: is it possible to de-velop relatively simple model systems to analyze the contribution of both a single gene and the consequences of its epigenetic regulation in the formation of the Williams syndrome%26apos;s cognitive phenotype? Is it possible to use Drosophila as a simple model system?
- 出版日期2014-3
