BIOL 430 2010 Lecture 6 handout

BIOL 430 2010 Lecture 6 handout - BIOL 430 Lecture 6...

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BIOL 430 Lecture 6 January 22 nd 2010 C. elegans intro Identification of genes by mutation orward genetics) (forward genetics) Nature of Mutations –Muller’s Morphs BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca)
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How do we Identity Genes volved in Development? Involved in Development? Spontaneous Mutations Genes were originally defined by mutation and we suggest a Ge es e e o g a y de ed by u a o a d e sugges 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 lassical “Forward Genetics” : Classical Forward Genetics : Mutant phenotype to Gene Reverse Genetics” : Post genomic Era Gene to Mutant Phenotype g RNAi (i=interference) BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) eg. RNAi (i interference) Site directed Gene Knock out
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ntennapedia 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
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Wild –type Mutant eyeless (lf) BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca)
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pax-6 (eyeless) mutations in mouse and umans cause absence of eyes 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)
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“eyes” 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
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Not all mutations are created equally! allele: One of the variant forms of a genetic cus differing from other forms in locus differing from other forms in its nucleotide sequence. * oint mutations ( ilent missense stop Point mutations ( silent, missense, stop ) *Chromosome rearrangements (deletions, duplications, translocations, Inversions) BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) *Transposable elements (jumping genes)
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The Nature of Mutations Recessive mutation m/m Wild type +/+ X ominant Mutations M/+ X X Dominant Mutations homozygous m/m or +/+ heterozygous hemizygous +/m /m yg 0/m Duplication +/+;Dp extra copies of the gene BIOL 430 Molecular Genetics of Development 2010 Dr. Ian Chin-Sang (www.chin-sang.ca) 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 - BIOL 430 Lecture 6...

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