BIOL 430 2010 Lecture 6 handout 6 slides

BIOL 430 2010 Lecture 6 handout 6 slides - How do we...

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1 BIOL 430 Lecture 6 January 22 nd 2010 C. elegans intro Identification of genes by mutation BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) (forward genetics) Nature of Mutations –Muller’s Morphs How do we Identity Genes Involved in Development? Spontaneous Mutations Genes were originally defined by mutation and we suggest a function for the gene based on the mutant phenotype. For example a mutation called eyeless causes flies to develop without eyes. Therefore the function of the eyeless gene is required for the formation of eyes. Genetic Screens for Mutations BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) Classical “Forward Genetics” : Mutant phenotype to Gene “Reverse Genetics” : Post genomic Era Gene to Mutant Phenotype eg. RNAi (i=interference) Site directed Gene Knock out BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) Wild-type Antennapedia (Dominant mutation, Homeotic transformation) http://www.biozentrum.unibas.ch/Research/Cell_Biology/Gehring/Pictures/pic1/pic1.html BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) Wild –type Mutant eyeless (lf) pax-6 (eyeless) mutations in mouse and humans cause absence of eyes BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) Glaser et al. Nature Genetics 7, 463 - 471 (1994) BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) http://www.biozentrum.unibas.ch/Research/Cell_Biology/Gehring/Pictures/pictures.html ectopic expression of eyeless “eyes”
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2 allele: One of the variant forms of a genetic locus differing from other forms in its nucleotide sequence. Not all mutations are created equally! *Point mutations ( silent, missense, stop ) BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) *Chromosome rearrangements (deletions, duplications, translocations, Inversions) *Transposable elements (jumping genes) The Nature of Mutations Recessive mutation Dominant Mutations m/m M/+ Wild type +/+ X X X BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) homozygous heterozygous hemizygous m/m or +/+ +/m 0/m Duplication +/+;Dp Deficiency +/Df Deletion in the region
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This note was uploaded on 12/06/2011 for the course BIOL 430 taught by Professor Dr.ianchin-sang during the Winter '10 term at Queens University.

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BIOL 430 2010 Lecture 6 handout 6 slides - How do we...

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