Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.
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.
Rideau
Alexandra
A
Mangeat
Bastien
B
Matthes
Thomas
T
Trono
Didier
D
Beris
Photis
P
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
D020121:5' Untranslated Regions; D023181:Antimicrobial Cationic Peptides; D018387:Codon, Initiator; C578702:HAMP protein, human; D064451:Hepcidins; D012333:RNA, Messenger