| First Author | Finn RD | Year | 2011 |
| Journal | Transgenic Res | Volume | 20 |
| Issue | 3 | Pages | 491-502 |
| PubMed ID | 20676935 | Mgi Jnum | J:172621 |
| Mgi Id | MGI:5008369 | Doi | 10.1007/s11248-010-9426-1 |
| Citation | Finn RD, et al. (2011) Cytochrome b (5) null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis. Transgenic Res 20(3):491-502 |
| abstractText | 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. |
