DEVELOPMENTAL EXPRESSION PATTERNS OF GENES IN VCFS

Yeshiva University, New York NY

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Abstract

The goal of this project is to assess the contribution of genes lying in the region of 22qll deleted in velo-cardio-facial/DiGeorge syndrome (VCFS/DGS) to the etiology of the syndrome. Our approach is to study patterns of genes expression in pathways of mammalian development that are relevant to VCFS/DGS. We propose to use high-throughput gene expression analysis with DNA microarrays to identify gene expression changes in mouse embryos carrying various mutations in mouse chromosome 16, the VCFS/DGS orthologous region in mice. We will also use this method to evaluate gene expression changes in mouse embryos with mutations on other chromosomes that produce phenotypes of VCFS/DGS. Finally, to understand the possible role of genes in the VCFS/DGS deleted region in the complete spectrum of phenotypes in VCFS/DGS patients, we proposed to continue to examine the developmental and tissue-specific expression patterns of genes located in the commonly deleted 3 Mb region that are identified in Project. The proposed studies will provide crucial information to guide experiments proposed in Projects 1 and 3. They will also contribute to our understanding of the mechanisms and pathways during early development that are relevant to VCFS/DGS and other congenital anomaly disorders.