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Table 1 Selected examples of P450 mutants characterized in various organisms

From: Cytochromes P450: a success story

P450 mutation Organism Phenotype Function altered Reference
(mutant name)     
CYP1B1 defect Human Congenital glaucoma Unknown [38]
CYP17 Human Sex steroid production Steroid17a-hydroxylase and 17, 20-lyase  
(more than 20 alleles)   affected in both sexes   
(some allelic variants)    Only the 17,20-lyase activity [39]
CYP19 defect Human Failure of normal female development Aromatase (aromatizes ring A of steroids, [40]
    thus producing estrogens)  
(overactive)   Male feminization   
CYP51 Uncinula necator Azole fungicide resistance Eburicol 14 a-demethylase [41]
(resistant variants with (powdery mildew)    
point mutations)     
CYP84A1 defect A. thaliana Does not accumulate sinapoyl malate; Coniferyl aldehyde 5-hydroxylase [42]
(EMS mutant fah1)   alterered lignin composition   
CYP90A1 defect A. thaliana De-etiolated in dark and dwarfism; Brassinolide 23-hydroxylase (synthesis of [43]
(via T-DNA tagging, cpd)   male sterility in the light steroid hormones)  
CYP71C2 defect Maize Defect in the production of DIMBOA*, Indolin-2-one 3-hydroxylase [6]
(transposon-tagged mutant,   more susceptible to pathogens   
Bx3::Mu)     
CYP72B1 overactive A. thaliana Suppression of long hypocotyl phenotype Brassinolide 26-hydroxylase (catabolism of [44]
(activation tagging,   of photoreceptor phyB-4 mutant brassinosteroids)  
bas1-D)     
CYP75A1 Petunia Altered flower color (blue to pink) Flavonoid 3',5'-hydroxylase [45]
(breeding mutants;     
2 alleles, Hf1 and Hf2)     
CYP302A1 defect Drosophila melanogaster Embryonic morphogenesis and cuticle Probable enzyme in the pathway of ecdysteroid [46]
(EMS mutants)   Deposition impaired (insect molting hormone) biosynthesis  
CYP504 Aspergillus nidulans Penicillin overproduction Phenylacetate 2-hydroxylase (a reaction [47]
(disruption)    competing with antibiotic biosynthesis)  
  1. This is not an exhaustive list, but is only meant to provide a glimpse of the functional diversity of P450 enzymes. *2,4-dihydroxy-7-methoxy-1,4-benzoxazin-3-one (DIMBOA) is one of the major defense compounds against microbial pathogens and insects accumulated in the gramineae.