Genetic Analysis of Development in Vertebrates Geneticists can study development in vertebrates by applying knowledge gained from the study of model invertebrates, by analyzing mutations and phenocopies of mutant genes in model vertebrates such as mice and zebrafish, and by examining the differentiation of stem cells.

The Mammalian Hox Genes

Evolution of the Hox Genes The four mammalian Hox gene clusters were created by quadruplication of a primordial cluster early in vertebrate evolution. The organization of the HOM/Hox genes has been preserved during evolution. Within each cluster, the physical order of the Hox genes corresponds to their anterior-posterior expression pattern.

Body Segmentation in Drosophila Cuticle patterns -Denticle belts

61 amino Acid conserved DNA Binding Sequence

Homeotic Genes Homeotic mutations transform one segment into another; this is called homeosis. Mutation in bithorax (bx) affect two thoracic segments. Mutations in Antennapedia transform the antennae into legs.

The Homeotic Genes of Drosophila The Drosophila homeotic genes form two large clusters on one of the autosomes. All of the homeotic genes encode helix-turn-helix transcription factors with a conserved homeodomain region involved in DNA binding. These genes control a regulatory cascade of target genes that control segment identity. The expression pattern of these genes along the anterior-posterior axis corresponds to the order of the genes along the chromosome.

The Bithorax and Antennapedia Complexes of Drosophila

Organ Formation Organ formation requires the organization of many different types of cells. Organ formation is under genetic control.

The eyeless Gene Mutant flies lack eyes. The wild-type eyeless gene encodes a homeodomain transcription factor that activates a pathway involving thousands of genes.

Mammalian Homologues of eyeless The mouse homologue of eyeless, Pax6, produces extra eyes when it is inserted into Drosophila. In mice, mutations in the eyeless homologue reduce the size of the eyes. Mutations in the human homologue cause aniridia.

Expression of eyeless in Other Tissues Causes Formation of Extra Eyes