GENOME CROSS-REFERENCING AND XREFDB - IMPLICATIONS FOR THE IDENTIFICATION AND ANALYSIS OF GENES MUTATED IN HUMAN-DISEASE

Comparative genomics approaches and multi-organismal biology are valua ble tools for genetic analysis. Cross-species connections between gene s mutated in human disease states and homologues in model organisms ca n be particularly powerful, as model-organism gene function data and e xperimental approaches can shed light an the molecular mechanisms defe ctive in the disease. We describe a project that is systematically ide ntifying novel expressed sequence tag (EST) sequences that are highly related to genes in model organisms and mapping them to positions on t he mouse and human maps. This process effectively cross-references mod el organism genes with mapped mammalian phenotypes, facilitating the i dentification of genes mutated in human disease states via the positio nal candidate approach. A public database, XREFdb (http://www.ncbi.nlm .nih.gov/XREFdb/), disseminates similarity search, mapping and mammali an phenotype information and increases the rate at which these cross-s pecies connections are established.