Sceening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)

Blood

Volumn 103, Issue 6, 2004, Pages 2407-2409

  Roetto, Antonella ^b   Daraio, Filomena ^b   Porporato, Paolo ^b   Caruso, Roberta ^b   Cox, Timothy M ^b   Cazzola, Mario ^b   Gasparini, Paolo ^b   Piperno, Alberto ^b   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DISULFIDE; HEPCIDIN; POLYPEPTIDE; ANTIMICROBIAL CATIONIC PEPTIDE;

ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; IRON OVERLOAD; JUVENILE HEMOCHROMATOSIS; MALE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; AMINO ACID SEQUENCE; CHEMISTRY; CHILD; GENETIC SCREENING; GENETICS; MISSENSE MUTATION; MOLECULAR GENETICS; PROTEIN CONFORMATION;

AMINO ACID SEQUENCE; ANTIMICROBIAL CATIONIC PEPTIDES; CHILD; CYSTEINE; GENETIC SCREENING; HEMOCHROMATOSIS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN CONFORMATION;

EID: 1542283709     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-10-3390     Document Type: Article

References (23)

1. Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Semin Hematol. 2002;39:242-248.
2. Roetto A, Totaro A, Cazzola M, et al. The juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 1999;64:1388-1393.
3. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
4. Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2000;276:7806-7810.
5. Nicolas G, Bennoun M, Devaoux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A. 2000; 98:8780-8785.
6. Nicolas G, Bennoun M, Porteu A, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A. 2002;99:4596-4601.
7. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated hemochromatosis and the liver as a regulator of body iron homeostasis. Lancet. 2003;361:669-673.
8. Gehrke SG, Kulaksiz H, Herrmann T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood. 2003;102:371-376.
9. Pigeon C, Ilvyn G, Courselaud B, et al. A new mouse-liver specific gene encoding a protein homologous to human antimicrobial peptide hepcidin is overexpressed during iron overload. J Biol Chem. 2001;276:7811-7819.
10. Ahmad KA, Ahmann JR, Migas MC, et al. Decreased liver hepcidin expression in the hfe knockout mouse. Blood Cells Mol Dis. 2002;29: 361-366.
11. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet. 2003;34: 102-107.
12. Nicolas G, Viatte L, Lou DQ, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet. 2003;34:97-101.
13. Krause A, Neitz S, Magert HJ, et al. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett. 2000; 480:147-150.
14. Hunter HN, Fulton DB, Ganz T, Vogel HJ. The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. J Biol Chem. 2002;277:37597-35603.
15. α regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. J Biol Chem. 2002;277:41163-41170.
16. Nicolas G, Chauvet C, Viatte L, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest. 2002;110:1037-1044.
17. Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood. 2003;102:783-788.
18. De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol. 2002;117:973-979.
19. De Gobbi M, Caruso R, Daraio F, et al. Diagnosis of juvenile hemochromatosis in a 11 year old child combining genetic analysis and non-invasive liver iron quantitation. Eur J Pediatr. 2003;162:96-99.
20. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001;27:744-749.
21. Rivard SR, Lanzara C, Grimard D, et al. Juvenile hemochromatosis locus maps to chromosome 1q in a French-Canadian population. Eur J Hum Genet. 2003;11:585-589.
22. Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet. 2003;12:2241-2247.
23. Biasiotto G, Belloli S, Ruggeri G, et al. Identification of a new mutation of HFE, hepcidin and transferrin receptor 2 genes by DHPLC analysis of subjects with biochemical parameters of iron overload. Clin Chem. 2003;49:1981-1988.