Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect

Blood Cells, Molecules, and Diseases

Volumn 30, Issue 3, 2003, Pages 231-237

  Le Gac, Gérald ^a,d   Dupradeau, François Yves ^d   Mura, Catherine ^b,d   Jacolot, Sandrine ^b,d   Scotet, Virginie ^a,d   Esnault, Germain ^c   Mercier, Anne Yvonne ^a   Rochette, Jacques ^d,e   Férec, Claude ^a,b,d  

^a Site de Brest   (France)

^b UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^c UNIVERSITÉ DE NANTES   (France)

^d UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^e AMIENS UNIVERSITY HOSPITAL   (France)

Author keywords

D HPLC screening; Hereditary hemochromatosis; HFE allelic heterogeneity; Q283P mutation; Unrestrained molecular dynamics

Indexed keywords

ADENINE; AMINO ACID; CYTOSINE; DNA; GLUTAMINE; HEREDITARY HEMOCHROMATOSIS PROTEIN; PROLINE; PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME MUTATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE COURSE; DISORDERS OF METAL METABOLISM; DNA SEQUENCE; EXON; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SEQUENCE ANALYSIS; STRUCTURE ACTIVITY RELATION;

EID: 0037624551     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1079-9796(03)00036-6     Document Type: Article

References (35)

1. Edwards C.Q., Griffen L.M., Goldgar D., Drummond C., Skolnick M.H., Kushner J.P. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N. Engl. J. Med. 318:1988;1355-1362.
2. Niederau C., Fisher R., Puerschel A., Stremmel W., Haeussinger D., Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 110:1996;1107-1119.
3. Feder J.N., Gnirke A., Thomas W., Tsuchihasdi Z., Ruddy D.A., Basava A., Dormishian F., Domingo R., Ellis M.C., Fullan A., Hinton L.M., Jones N.L., Kimmel B.E., Kronmal G.S., Láuer P., Lee V.K., Loeb D.B., Mapa F.A., McClelland E., Meyer N.C., Mintier G.A., Moeller N., Moore T., Morikang E., Prass C.E., Quintana L., Starnes S.M., Schatzman R.C., Brunke K.J., Drayna D.T., Risch N.J., Bacon B.R., Wolff R.K. A novel MHC classI-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13:1996;399-408.
4. Feder J.N., Penny D.M., Irrinki A., Lee V.K., Lebron J.A., Watson N., Tsuchihasdi Z., Sigal E., Bjorkman P.J., Schatzman R.C. The hemochromatosis gene product complexe with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA. 95:1998;1472-1477.
5. Salter-Cid L., Brunmark A., Yuanhao L., Leturcq D., Peterson P.A., Jackson M.R., Yang Y. Transferrin receptor is negatively modulated by the hemochromatosis protein HFE implications for cellular iron homeostasis . Proc. Natl. Acad. Sci. USA. 96:1999;5434-5439.
6. Lebron J.A., West A.P. Jr., Bjorkman P.J. The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor. J. Mol. Biol. 294:1999;239-245.
7. Roy C.N., Penny D.M., Feder J.N., Enns C.A. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biochem. Chem. 274:1999;9022-9028.
8. Waheed A., Parrkila S., Zhou X.Y., Tomatsu S., Tsuchihashi Z., Feder J.N., Schatzman R.C., Britton R.S., Bacon B.R., Sly W.S. Hereditary hemochromatosis effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-cells . Proc. Natl. Acad. Sci. USA. 94:1997;12384-12389.
9. Jaswinska E.C., Cullen L.M., Busfield F., Pyper W.R., Webb S.I., Powell L.W. Haemochromatosis and HLA-H. Nature Genet. 14:1996;249-251.
10. Jouanolle A.M., Gandon G., Jézéquel P., Blayau M., Campion M.L., Yaouanq J. Haemochromatosis and HLA-H. Nature Genet. 14:1996;251-252.
11. Beutler E., Gelbart T., West C., Lee P., Adams M., Blackstone R., Pockros P., Kosty M., Venditti C.P., Phatak P.D., Seese N.K., Chorney K.A., Ten Elshof A.E., Gerhard G.S., Chorney M. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 31:1996;187-194.
12. Mura C., Nousbaum J.B., Verger P., Moalic M.T., Raguenes O., Mercier A.Y., Ferec C. Phenotype-genotype correlation in haemochromatosis subjects. Hum. Genet. 101:1997;271-276.
13. Carella M., D'Ambrossio L., Totaro A., Grifa A., Valentino M.A., Piperno A., Girelli D., Roetto A., Franco B., Gasparini P., Camashella C. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60:1997;828-832.
14. Barton J.C., Shich W.W.H., Sawada-Hirai R., Acton R.T., Harmon L., Rivers C., Rothenberg B.E. Genetic and clinical description of hemochromatosis probands and heterozygotes evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis . Blood Cells Mol Dis. 23:1997;135-145.
15. Le Gac G., Mura C., Ferec C. Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC. Clin. Chem. 47:2001;1633-1640.
16. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
17. Mura C., Raguenes O., Ferec C. HFE mutation analysis in 711 hemochromatosis probands evidence for S65C implication in mild form of hemochromatosis . Blood. 8:1999;2502-2505.
18. Case D.A., Pearlman D.A., Caldwell J.W., Cheatham T.E., Ross W.S., Simmerling C.L., Darden T.A., Merz K.M., Stanton R.V., Cheng A.L., Vincent J.J., Crowley M., Tsui V., Radmer R.J., Duan Y., Pitera J., Massova I., Seibel G.L., Singh U.C., Weiner P.K., Kollman P.A. AMBER 6. 1999;University of California, San Francisco, CA.
19. Wang J., Cieplak P., Kollman P.A. How well does a retrained electrostatic potential (RESP) model perform in calculating the conformational energies of organic and biological molecules? J. Comput. Chem. 21:2000;1049-1074.
20. Lebron J.A., Bennett M.J., Vaughn D.E., Chirino A.J., Snow P.M., Mintier G.A., Feder J.N., Bjorkman P.J. Crystal structure of the hemochromatosis protein HFE and characterization of its interactions with transferrin receptor. Cell. 93:1998;111-123.
21. Berman H.M., Westbrook J., Feng Z., Gilliland G., Bhat T.N., Weissing H., Shindyalov I.N., Bourne P.E. The protein data bank. Nucleic Acids Res. 28:2000;235-242.
22. Reyes C.M., Kollman P.A. Investigating the binding specificity of UA1-RNA by computational mutagenesis. J. Mol. Biol. 295:2000;1-6.
23. Rychaert J.P., Cicotti G., Bederendsen H.J.C. Numerical integration of the cartesian equations of motion of a system with contraints molecular dynamics of n-alkanes . J. Comput. Phys. 23:1977;327-341.
24. Kollman P.A., Massova I., Reyes C., Kuhn B., Huo S.H., Chong L., Lee M., Lee T., Duan Y., Wang W., Donini O., Cieplak P., Srinivasan J., Case D.A., Cheatham T.E. Calculating structures and free energies of complex molecules combining molecular mechanics and continuum models . Acc. Chem. Res. 33:2000;889-897.
25. Jayaram B., Sprous D., Beveridge D.L. Solvation free energy of biomacromolecules parameters for a modified generalized born model consistent with the AMBER force field . J. Physiol. Chem. B. 102:2002;9571-9576.
26. Still W.C., Tempczyk A., Hawley R.C., Hendrickson T. Semianalytical treatment of solvation for molecular mechanics and dynamics. J. Am. Chem. Soc. 112:1990;6127-6129.
27. Gochee P.A., Powell L.W., Cullen L.M., Du Sart D., Rossi E., Olynyk J.K. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 122:2002;646-651.
28. Li S.C., Goto N.K., Williams K.A., Deber C.M. Alpha-helical, but not beta-sheet, propensity of proline is determined by peptide environment. Proc. Natl. Acad. Sci. USA. 93:1996;6676-6681.
29. Plaxco K.W., Spitzfaden C., Campbell I.D., Dobson C.M. Rapid refolding of a proline rich all-beta-sheet fibronectin type III module. Proc. Natl. Acad. Sci. USA. 93:1996;10703-10706.
30. Wood S.J., Wetzel R., Martin J.D., Hurle M.R. Prolines and amyloidogenicity in fragments of the Alzheimer's peptide beta/A4. Biochemistry. 34:1995;724-730.
31. Zaremba S.N., Gregoret L.M. Context-dependence of amino acid residue pairing in anti parallel beta-sheets. J. Mol. Biol. 291:1999;463-479.
32. Anfinsen C.B. Principles that govern the folding of protein chains. Science. 181:1973;223-230.
33. Moult J., Hubbard T., Fidelis K., Pedersen J.T. Critical assessment of methods of proteins structure prediction (CASP) round III . Proteins. (Suppl. 3):1999;2-6.
34. Duan Y., Kollman P.A. Pathways to a protein folding intermediate observed in a 1-microsecond simulation in aqueous solution. Science. 282:1998;740-744.
35. Cregut D., Serrano L. Molecular dynamics as a tool to detect protein foldability. A mutant of domain B1 of protein G with non-native secondary structure propensities. Protein Sci. 8:1999;271-282.