HMB265H1 Lecture Notes - Lecture 20: Aniridia, Maternal Effect, Eric F. Wieschaus
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HMB265H1 Full Course Notes
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Document Summary
Large collection of mutants in labs know how to work and manipulate the organism based on previous research. Genomes sequenced: easy to identify genes with mutant phenotypes. Huge advantage: developmental mutants in the larval stages are easy to identify because of the exoskeleton (outside of the organism). Any changes in the exoskeleton are very easily seen. Mutations isolated in drosophila are used as treasure hunts for similar genes in other organisms. Evolution has conserved basic strategies of development across multicellular eukaryotes same gene important in eye development from drosophlia to humans. Homologous genes across eukaryotes: eyeless (drosophila), pax-6 (mice) and. Aniridia (humans) are all homologous and control eye development. Pax-6 and aniridia can direct eye development in a knockout drosophila strain. Conservation at the molecular level allows the human gene to recover drosophila eye development even though they have very different eyes! Aniridia: mutation is inherited in a dominant fashion. Heterozygote: (affected) iris is abnormal, either completely or partially absent.
