Characterisation of human chromosome 21 genes

One of the needs for understanding DS is to create genetic network maps that could be affected by the dosage imbalance of the trisomy. This will require the integration of different types of data, starting from the generation of a complete catalogue of HSA21 genes, following with the production of tissue and developmental expression maps, and ending with an improvement in the knowledge of the function of the genes present in the chromosome. All this should be complemented with the definition of protein-protein interaction maps that could reveal cross-talks between different pathways.

The estimations in the number of genes present in HSA21 are around 250-300 genes. The initial annotation of the complete sequence of HSA21 included 127 known genes and a similar number of genes belonging to the group of as-yet-undescribed HSA21 genes. With the aim to contribute to a complete gene catalogue, the group will continue working in the identification of new HSA21 genes as well as in the characterization of their expression profiles.