| Literature DB >> 11753383 |
Laurent Gouya1, Herve Puy, Anne-Marie Robreau, Monique Bourgeois, Jerôme Lamoril, Vasco Da Silva, Bernard Grandchamp, Jean-Charles Deybach.
Abstract
Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by a partial deficiency of ferrochelatase (FECH, EC 4.99.1.1). EPP is transmitted as an autosomal dominant disorder with an incomplete penetrance. Using haplotype segregation analysis, we have identified an intronic single nucleotide polymorphism (SNP), IVS3-48T/C, that modulates the use of a constitutive aberrant acceptor splice site. The aberrantly spliced mRNA is degraded by a nonsense-mediated decay mechanism (NMD), producing a decreased steady-state level of mRNA and the additional FECH enzyme deficiency necessary for EPP phenotypic expression.Entities:
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Year: 2001 PMID： 11753383 DOI： 10.1038/ng809
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330