10-Mutations & gene function-10

10-Mutations & gene function-10 - How mutations...

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How mutations affect gene expression and function 11/10/10
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Lecture Outline How nonsense suppressors work (problem discussed at the end of last class) How mutations affect gene expression and protein function Loss-of-function mutations Gain-of-function mutations
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Fig. 8.32.a Nonsense mutations cause translation to terminate prematurely
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Fig. 8.32.b Mutations in certain tRNA genes can suppress nonsense mutations
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Relationship between genes, proteins, phenotype Today we will be integrating several concepts
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Fig. 8.28.a
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Fig. 8.28.b
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Mutations can be classified based on how they affect gene function Loss-of-function mutations (common) usually recessive Protein cannot be synthesized Mutant protein is inactive Gain-of-function mutations (rare) dominant Protein activity is higher than normal Protein is not regulated properly Mutant protein has a new activity
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Example of a recessive, loss-of-function mutation in the xanthine dehydrogenase gene of Drosophila Fig. 8.29
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Fig. 8.31.a In rare instances, loss-of-function mutations are dominant, for example, the mouse T locus.
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Fig. 8.31.b
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This note was uploaded on 02/24/2011 for the course BIOL 202 taught by Professor Kieber-hogan during the Fall '08 term at UNC.

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10-Mutations & gene function-10 - How mutations...

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