Cytochrome b (5) null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis

Robert D. Finn, Lesley A. McLaughlin, Catherine Hughes, Chengli Song, Colin J. Henderson, C. Roland Wolf

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    22 Citations (Scopus)


    Microsomal cytochrome b (5) is a ubiquitous, 15.2 kDa haemoprotein implicated in a number of cellular processes such as fatty acid desaturation, drug metabolism, steroid hormone biosynthesis and methaemoglobin reduction. As a consequence of these functions this protein has been considered essential for life. Most of the ascribed functions of cytochrome b (5), however, stem from in vitro studies and for this reason we have carried out a germline deletion of this enzyme. We have unexpectedly found that cytochrome b (5) null mice were viable and fertile, with pups being born at expected Mendelian ratios. However, a number of intriguing phenotypes were identified, including altered drug metabolism, methaemoglobinemia and disrupted steroid hormone homeostasis. In addition to these previously identified roles for this protein, cytochrome b (5) null mice displayed skin defects closely resembling those observed in autosomal recessive congenital ichthyosis and retardation of neonatal development, indicating that this protein, possibly as a consequence of its role in the de novo biosynthesis of unsaturated fatty acids, plays a central role in skin development and neonatal nutrition. Results from fatty acid profile analysis of several tissues suggest that cytochrome b (5) plays a role controlling saturated/unsaturated homeostasis. These data demonstrate that regional concentrations of unsaturated fatty acids are controlled by endogenous metabolic pathways and not by diet alone.

    Original languageEnglish
    Pages (from-to)491-502
    Number of pages12
    JournalTransgenic Research
    Issue number3
    Publication statusPublished - Jun 2011


    • Cytochrome b(5)
    • Ichthyosis
    • Methaemoglobinemia
    • Nutrition
    • Skin
    • Unsaturated fatty acids
    • B(5)
    • GENE


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