Developmental genetics: The intersection of genetics, birth defects and functional genomics n Many human birth defects are due to impairment of developmental processes –ex.: aniridia, Waardenburg syndrome, holoprosencephaly n Many such cases are multifactorial - different genes and environmental effects –ex.: cleft palate, anomalies of sex determination

Animal development: Regulated and conserved mechanisms (and genes) n Mutagenesis screens utilizing Drosophila reaped many highly conserved genes and gene families (as well as a Nobel prize!) –ex.: the HOX genes transcription factors that specify segmentation (e.g., the anterior- posterior axis) genetic map order reflective of developmental expression along an axis

Functional genomics of testis development n SRY/Sry: how does this key gene regulate the morphogenesis of the testis? Experimental model: mouse n Transformation of “bipotential” gonad into a testis involves cell migration, proliferation and assortment to form testis cords surrounding the germ cells n Experimental analyses reveal the influence of Sry on these processes