Introduction to Genetic Analysis 537

Introduction to - Deletion(c Gain of function hypermorphic mutation Mutant phenotype Mutant phenotype Deletion MM Gain of extra gene activity in

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536 Chapter 16 Dissection of Gene Function + (a) Loss of function: null (amorphic) mutation Homozygous wild type Controls Duplication Deletion Wild-type phenotype Loss of gene activity by deletion of one copy of wild-type allele compensated by duplication of wild-type allele ++ M Mutant phenotype Loss of gene activity in exactly matched by deletion in wild-type homozygote Wild-type phenotype Loss of gene activity in compensated by duplication Mutant phenotype Loss of gene activity in less severe than loss by deletion in wild-type homozygote Loss of gene activity in compensated by duplication (b) Loss of function: hypomorphic (leaky) mutation Deletion Wild-type phenotype
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Unformatted text preview: Deletion (c) Gain of function: hypermorphic mutation Mutant phenotype Mutant phenotype Deletion MM Gain of extra gene activity in partly compensated by deletion Gain of extra gene activity in made more severe by duplication (d) Gain of function: neomorphic mutation New mutant phenotype Deletion Novel gene activity encoded by insensitive to gene dosage of wild-type gene: All M phenotype Figure 16-22 Distinguishing various functional causes of dominant mutations. See the text for discussion. 44200_16–p521-544 3/17/04 9:12 AM Page 536...
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This note was uploaded on 01/10/2011 for the course BIOL BIOL taught by Professor Johnson during the Spring '08 term at Aberystwyth University.

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