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Molecular analysis of Cornelia de Lange syndrom
Vokáčová, Markéta ; Schierová, Michaela (advisor) ; Jedličková, Jana (referee)
Cornelia de Lange syndrome is a rare, very heterogeneous, genetic disorder classified as a cohesinopathy. It is caused by mutations in genes that encode proteins of the cohesin complex or its regulators. So far, 5 major genes, whose defects are responsible for the syndrome, have been discovered. The mutated gene determines the type of heredity and, above all, the extent of the pathology. Due to dysfunction of the cohesin complex, not only the cohesion of sister chromatids is impaired, but also the regulation of gene expression and the repair of DNA double-strand breaks. Knowledge of molecular aspects of the disease has been enhanced by ongoing experiments with animal models of Cornelia de Lange syndrome, cell cultures from patients, and the yeast Saccharomyces cerevisiae. The detailed analysis of the biological functions of the cohesin complex may help to develop therapeutic methods. Keywords: Cornelia de Lange syndrome, cohesin complex, cohesinopathy, transcriptome change, genome integrity, topologically associating domains, NIPBL
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