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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