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Developmental genetics: The intersection of genetics, birth defects and functional genomics Many human birth defects are due to impairment of developmental processes – ex.: aniridia, Waardenburg syndrome, holoprosencephaly 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) 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 anteriorposterior axis) • genetic map order reflective of developmental expression along an axis Functional genomics of testis development SRY/Sry: how does this key gene regulate the morphogenesis of the testis? Experimental model: mouse Transformation of “bipotential” gonad into a testis involves cell migration, proliferation and assortment to form testis cords surrounding the germ cells Experimental analyses reveal the influence of Sry on these processes