Nikolaienko O. Development of chromosome 21 gene database and determination of new functional links of intersectin 1

The object - chromosome 21 trisomy. The aim - to create chromosome 21 database and to determine new functional links of intersectin 1, which gene is located in Down syndrome critical region of chromosome 21. Applied methods - structural and object-oriented programming, data processing, molecular cloning, affinity chromatography, transient transfection, immunoprecipitation, Western-blot analysis, protein-protein interaction prediction, GST pull-down, fluorescent confocal microscopy. Results and novelty - human chromosome 21 database, it's interface and manual curation application were created. The database unifies information on genes from human chromosome 21 and the orthologous regions on mouse chromosomes, and provides access to basic and advanced searches, lists of gene tables, and genomic sequence annotation. The database can be useful to predict the consequences of trisomy manifested as perturbations of biochemical, cellular and signalling pathways, to design additional mouse models of DS to explore regulation of the perturbations, and to aid in development of pharmacological agents to control these perturbations and manipulate mouse models. New protein partners of ITSN1 - Ruk/CIN85 and Cbl-b - were identified and subcellular localization of their complexes were determined. Obtained results can help in predicting pathway perturbations due to overexpression of ITSN1 in DS.