Article
Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Blood cells, molecules & diseases - 1 Oct 2013
Barman-Aksözen Jasmin, Béguin Chantal, Dogar Afzal M, Schneider-Yin Xiaoye, Minder Elisabeth I
Abstract excerpt
Erythropoietic protoporphyria (EPP) results from partial deficiency of ferrochelatase (FECH). Genetically, EPP patients differ from asymptomatic mutation carriers at the unmutated FECH allele, the expression of which is modulated by single nucleotide polymorphism IVS3-48C/T. The IVS3-48C genotype, which is present among patients, leads to correct splicing of 60% of the pre-mRNA and to alternative splicing of 40%,...
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