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Two models for dominance of a mutation a Model 1: Model 2: Phenotype t Haploinsufficiency Dominant negative p +/+ a 2 "doses" of product Dimer Wild type be MIM Mutant a 0 "dose" ti ti +/M Mutant t 1 "dose" (inadequate) tl sufficiency and the a« mutation is illustrated FIGURE 6-2 Amutation may be dominant because (left) a single wild-type gene does not produce enough protein product for proper function or (right) the mutant allele acts as a dominant negative that produces a "spoiler" protein product. KEY CONCEPT expression (such gen recessive. Harmful mu Mutations in genes the dominant negatives, a

Two models for dominance of a mutation a Model 1: Model 2: Phenotype t Haploinsufficiency Dominant negative p +/+ a 2 "doses" of product Dimer Wild type be MIM Mutant a 0 "dose" ti ti +/M Mutant t 1 "dose" (inadequate) tl sufficiency and the a« mutation is illustrated FIGURE 6-2 Amutation may be dominant because (left) a single wild-type gene does not produce enough protein product for proper function or (right) the mutant allele acts as a dominant negative that produces a "spoiler" protein product. KEY CONCEPT expression (such gen recessive. Harmful mu Mutations in genes the dominant negatives, a

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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In Figure 6-2, explain how the mutant polypeptide acts
as a spoiler and what its net effect on phenotype is.

Two models for dominance of a mutation a Model 1: Model 2: Phenotype t Haploinsufficiency Dominant negative p +/+ a 2 "doses" of product Dimer Wild type be MIM Mutant a 0 "dose" ti ti +/M Mutant t 1 "dose" (inadequate) tl sufficiency and the a« mutation is illustrated FIGURE 6-2 Amutation may be dominant because (left) a single wild-type gene does not produce enough protein product for proper function or (right) the mutant allele acts as a dominant negative that produces a "spoiler" protein product. KEY CONCEPT expression (such gen recessive. Harmful mu Mutations in genes the dominant negatives, a
Transcribed Image Text:Two models for dominance of a mutation a Model 1: Model 2: Phenotype t Haploinsufficiency Dominant negative p +/+ a 2 "doses" of product Dimer Wild type be MIM Mutant a 0 "dose" ti ti +/M Mutant t 1 "dose" (inadequate) tl sufficiency and the a« mutation is illustrated FIGURE 6-2 Amutation may be dominant because (left) a single wild-type gene does not produce enough protein product for proper function or (right) the mutant allele acts as a dominant negative that produces a "spoiler" protein product. KEY CONCEPT expression (such gen recessive. Harmful mu Mutations in genes the dominant negatives, a
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