HMB265H1 Lecture Notes - Lecture 24: Aniridia, Pax6, Human Cloning

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HMB265 Lecture 20 Using genetics to understand development
Model organisms and why they are used:
- Model organisms are used to study development
- Easy to grow
- Rapidly reproduce
- Small size
- Large collections of mutants with developmental defects maintained in stock centers
- Genes and pathways are conserved
- Genomes are sequenced
o Easier for geneticists to identify genes with mutant phenotypes
- Information gained is useful in understanding human development because all living
forms are related
o Evolution has conserved basic strategies of development across multicellular
eukaryotes
o Eyeless Pax-6 and Aniridia (humans) genes are homologous
o Pax-6 and Aniridia wild-type genes can direct eye development in Drosophila
o Individual with 1 defective copy of Aniridia is heterozygote
Genetic techniques used to study development
- Reverse genetics
o Knockout or mutation of selective genes
o Phenotype analysis
- Forward genetics
o Identify mutated gene
Stem cells and cloning
- Embryonic stem cells can be used for therapeutic purposes, as well as for cloning whole
organisms
- Human cloning is not allowed for ethical reasons
Classes of Drosophila segmentation-gene mutants
- Gap
o Kruppel
o Knirps
- Pair rule
o Even-skipped
o Odd-skipped
o Paired
o Runt
- Segment polarity
o Gooseberry
o Patched
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