title: Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.
abstract: We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Rideau
authors.forename: Bastien
authors.initials: B
authors.lastname: Mangeat
authors.forename: Thomas
authors.initials: T
authors.lastname: Matthes
authors.forename: Didier
authors.initials: D
authors.lastname: Trono
authors.forename: Photis
authors.initials: P
authors.lastname: Beris
mesh_terms: D020121:5' Untranslated Regions; D023181:Antimicrobial Cationic Peptides / Q000097:blood* / Q000172:deficiency* / Q000235:genetics*; D002460:Cell Line; D018387:Codon, Initiator; D006432:Hemochromatosis / Q000097:blood*; D064451:Hepcidins; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D017354:Point Mutation; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000378:metabolism; D014162:Transfection
chemical_list: D020121:5' Untranslated Regions; D023181:Antimicrobial Cationic Peptides; D018387:Codon, Initiator; C578702:HAMP protein, human; D064451:Hepcidins; D012333:RNA, Messenger