Human Gene Set: SCHMIDT_POR_TARGETS_IN_LIMB_BUD_UP

For the Mouse gene set with the same name, see SCHMIDT_POR_TARGETS_IN_LIMB_BUD_UP

Standard name SCHMIDT_POR_TARGETS_IN_LIMB_BUD_UP
Systematic name M2383
Brief description Genes up-regulated in E12.5 forelimb buds with POR [GeneID=5447] knockout.
Full description or abstract Cytochrome P450 oxidoreductase (POR) is the obligate electron donor for all microsomal cytochrome P450 enzymes, which catalyze the metabolism of a wide spectrum of xenobiotic and endobiotic compounds. Point mutations in POR have been found recently in patients with Antley-Bixler-like syndrome, which includes limb skeletal defects. In order to study P450 function during limb and skeletal development, we deleted POR specifically in mouse limb bud mesenchyme. Forelimbs and hind limbs in conditional knockout (CKO) mice were short with thin skeletal elements and fused joints. POR deletion occurred earlier in forelimbs than in hind limbs, leading additionally to soft tissue syndactyly and loss of wrist elements and phalanges due to changes in growth, cell death, and skeletal segmentation. Transcriptional analysis of E12.5 mouse forelimb buds demonstrated the expression of P450s involved in retinoic acid, cholesterol, and arachidonic acid metabolism. Biochemical analysis of CKO limbs confirmed retinoic acid excess. In CKO limbs, expression of genes throughout the whole cholesterol biosynthetic pathway was upregulated, and cholesterol deficiency can explain most aspects of the phenotype. Thus, cellular POR-dependent cholesterol synthesis is essential during limb and skeletal development. Modulation of P450 activity could contribute to susceptibility of the embryo and developing organs to teratogenesis.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 19273610   Authors: Schmidt K,Hughes C,Chudek JA,Goodyear SR,Aspden RM,Talbot R,Gundersen TE,Blomhoff R,Henderson C,Wolf CR,Tickle C
Exact source Fig. 7C: Fold change > 1
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Source species Mus musculus
Contributed by Arthur Liberzon (MSigDB Team)
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identifier namespace		 MOUSE_GENE_SYMBOL
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Version history 7.1: Fixed RIKEN identifiers.

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