Table 1 Selected examples of P450 mutants characterized in various organisms
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) |