Biology 2581B Lecture Notes - Lecture 2: Arabidopsis Thaliana, Haploinsufficiency, Stop Codon
15 Mar 2015
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Does not produce (or enough) wild- type product. Negative loss of function: no product made, gene function knocked out, reduced protein synthesis. Or: protein is somewhat deformed imparts weak function. Intermediate levels of gene products cause intermediate phenotypes: different combinations of alleles phenotype ranges. Haplo-insufficiency: one wt allele is not sufficient for wt phenotype, reveal dosage-sensitive genes, property of wild-type allele (not mutant allele) Testing: add second wild-type copy and see if it looks wildtype. Different alleles have different degrees of function: no eyes, small eyes, reduced eye sizes. Still have two protein interaction domains still form homo dimer. Needs two domains to interact with element in promoter one protein does not have domain to bind to dna. Increased protein synthesis or a protein that functions better (ex. enzyme with higher activity) Mutations where one type of organ is replaced by another. Usually expressed thoracic segment and required for leg development.
