The C282Y mutation causing hereditary hemochromatosis does not produce a null allele

Blood

Volumn 94, Issue 1, 1999, Pages 9-11

  Levy, Joanne E ^b   Montross, Lynne K ^b   Cohen, Dena E ^b   Fleming, Mark D ^b   Andrews, Nancy C ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL EXPERIMENT; CODON; GENE LOCUS; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOSITY; IRON METABOLISM; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

EID: 0033168767     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v94.1.9.413a43_9_11     Document Type: Review

References (10)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399, 1996
2. Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS: 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-7 cells. Proc Natl Acad Sci USA 94:12384, 1997
3. de Sousa M, Reimao R, Lacerda R, Hugo P, Kaufmann SH, Porto G: Iron overload in beta 2-microglobulin-deficient mice. Immunol Lett 39:105, 1994
4. Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Waheed A, Jiang J, Fei Y, Brunt EM, Ruddy DA, Prass CE, Schatzman RC, O'Neill R, Britton RS, Bacon BR, Sly WS: HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci USA 95:2492, 1998
5. Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P: Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911, 1996
6. Levy JE, Jin O, Fujiwara Y, Kuo F, Andrews NC: Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat Genet 21:396, 1999
7. LeBoeuf RC, Tolson D, Heinecke JW: Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains. J Lab Clin Med 126:128, 1995
8. Lakso M, Pichel JG, German JR, Sauer B, Okamoto Y, Lee E, Alt FW, Westphal H: Efficient in vivo manipulation of mouse genomic sequences at the zygote stage. Proc Natl Acad Sci USA 93:5860, 1996
9. Brink B, Disler P, Lynch S, Jacobs P, Charlton R, Bothwell T: Patterns of iron storage in dietary iron overload in idiopathic hemochromatosis. J Lab Clin Med 88:725, 1976
10. Torrance JD, Bothwell TH: Tissue iron stores, in Cook JD (ed) Methods in Hematology, vol 1. New York, NY, Churchill Livingstone, 1980, p 104