Mutation analysis of HIF prolyl

hydroxylases (PHD/EGLN) in individuals y3, io4,5, search Ltd, Karolinska Institute, Nobelsvag 3, SE-171 77 VHL and SDHB-related RCC; both HIF dysregulation and disordered function of a prolyl and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (nZ82) and Endocrine-Related Cancer (2011) 18 73–83inherited RCC (nZ64) and no evidence of germline mutations in known susceptibility genes. No confirmed pathogenic mutations were detected suggesting that mutations in these genes are not a frequent cause of inherited phaeochromocytoma or RCC. Endocrine-Related Cancer (2011) 18 73–83hydroxylase domain isoform 3 (PHD3/EGLN3)-related pathway of neuronal apoptosis have been linked to the development of phaeochromocytoma. The 2-oxoglutarate-dependent prolyl hydroxylase enzymes PHD1 (EGLN2), PHD2 (EGLN1) and PHD3 (EGLN3) have a key role in regulating the stability of HIF-a subunits (and hence expression of the HIF-a transcription factors). A germline PHD2 mutation has been reported in association with congenital erythrocytosis and recurrent extra-adrenal phaeochromocytoma. We undertook mutation analysis of PHD1, PHD2Stockholm, Swede