Index of lecture „Grundlagen der Entwicklungsgenetik des Menschen“ VO 2 Std.; lecturers: Christian Schöfer, Klara Weipoltshammer The aim of this lecture is to give an overview of the many aspects of basic regulatory mechanisms which drive embryonic development. Throughout the lecture, evolutionary aspects of development are integrated as well as medical aspects whenever appropriate. I. History - From Aristoteles to Dolly a. b. c. d. II. Antiquity, Aristoteles: De generatione animalium, Historia animalium Arabians, middle ages, enlightenment Influences on embryology during 19th and early 20th century From second half of 20th century to present Methodology a. b. Descriptive, experimental embryology, developmental genetics and biology Selected techniques III. Important model systems From C. elegans to M. musculus IV. Early mammalian development – epigenetic expression control a. b. c. d. V. Meiosis, gametogenesis, fertilization, cleavage, morula, blastocyst Epigenetic chromatin modifications X-inactivation Determination, differentiation, cellular potency (Weismann, cloning) From disk to embryo – development 2nd to 4th week a. b. Implantation, gastrulation, delamination from yolk sac General principles VI. Developmental genetics a. Developmental control genes and signal molecules b. Drosophila: maternal morphogenes, segmentation-, selector-, patterning genes c. The homeotic selector genes - homeobox genes and homeotic transformations d. Master control genes – Pax6 and eye development e. Control of developmental gene expression VII. Positional identity, pattern formation and gradients a. b. c. Drosophila – bicoid Somitogenesis – gradient and oscillating genes Models: French flag, clock-wave front model, etc. VIII. Limb development – integration of basic principles a. b. c. Basics – three axes, hind- and forelimb definition Immigration of cells into limb anlagen Apoptosis and morphogenesis IX. Developmental genes and cancer a. b. X. Example: Hedgehog signalling Stem cells and cancer stem cells Developmental mechanics a. b. c. d. e. f. g. Self organisation Cytoskeleton and morphogenesis Directed cellular movement Cell-cell interactions - contact guidance, waypoint navigation, CAMs Cell condensation Morphogenesis – tubules, branches Oriented cell divisions and morphogenesis XI. Medical aspects a. Therapeutically and reproductive cloning b. IVF c. Teratology d. Excursion to the “Narrenturm”; collection of congenital disorders In addition to the lecture, students will perform a typical experiment in the field of developmental biology. In our case, we will detect the expression pattern of a specific developmental gene in chicken embryos by in-situ hybridization. Furthermore, an excursion to the Pathologisch-anatomisches Bundesmuseum (“Narrenturm”) will take place at the end of the lecture in order to study malformations as consequences of aberrant gene function.