Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia

Blood Cells, Molecules, and Diseases

Volumn 35, Issue 2, 2005, Pages 189-192

  Quigley, John G ^a   Gazda, Hanna ^b,c   Yang, Zhantao ^a   Ball, Sarah ^d   Sieff, Colin A ^b,c   Abkowitz, Janis L ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Diamond Blackfan anemia; FLVCR; Heme export

Indexed keywords

HEMOPROTEIN;

3' UNTRANSLATED REGION; ARTICLE; BLACKFAN DIAMOND ANEMIA; CHROMOSOME 1Q; ERYTHROCYTE APLASIA; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; HUMAN; LINKAGE ANALYSIS; PRIORITY JOURNAL; SOUTHERN BLOTTING;

3' UNTRANSLATED REGIONS; ANEMIA, DIAMOND-BLACKFAN; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HEME; HUMANS; LINKAGE (GENETICS); MEMBRANE TRANSPORT PROTEINS; PEDIGREE; POINT MUTATION; RECEPTORS, VIRUS;

EID: 24644524981     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.01.005     Document Type: Article

References (15)

1. D.S. Halperin, and M.H. Freedman Diamond-Blackfan anemia: etiology, pathophysiology, and treatment Am. J. Pediatr. Hematol./Oncol. 11 1989 380 394
2. T.N. Willig, H. Gazda, and C.A. Sieff Diamond Blackfan anemia Curr. Opin. Hematol. 7 2000 85 94
3. T.N. Willig, N. Draptchinskaia, I. Dianzani, S. Ball, C. Niemeyer, U. Ramenghi, K. Orfali, P. Gustavsson, E. Garelli, A. Brusco, C. Tiemann, J.L. Perignon, C. Bouchier, L. Cicchiello, N. Dahl, N. Mohandas, and G. Tchernia Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: wide variations in phenotypic expression Blood 94 1999 4294 4306
4. L. Da Costa, G. Narla, T.N. Willig, L.L. Peters, M. Parra, J. Fixler, G. Tchernia, and N. Mohandas Ribosomal protein S19 expression during erythroid differentiation Blood 101 2003 318 324
5. H. Gazda, J.M. Lipton, T.N. Willig, S. Ball, C.M. Niemeyer, G. Tchernia, N. Mohandas, M.J. Daly, A. Ploszynska, K.A. Orfali, A. Vlachos, B.E. Glader, R. Rokicka-Milewska, A. Ohara, D. Baker, D. Pospisilova, A. Webber, D.H. Viskochil, D.G. Nathan, A.H. Beggs, and C.A. Sieff Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease Blood 97 2001 2145 2150
6. J.G. Quigley, C.C. Burn, M.M. Anderson, E.D. Lynch, K.M. Sabo, J. Overbaugh, and J.L. Abkowitz Cloning of the cellular receptor for feline leukemia virus subgroup C, a retrovirus that induces red cell aplasia Blood 95 2000 1093 1099
7. S.S. Pao, I.T. Paulsen, and M.H. Saier Jr. Major facilitator superfamily Microbiol. Mol. Biol. Rev. 62 1994 1 34
8. J.G. Quigley, Z. Yang, M.T. Worthington, K.M. Sabo, D.E. Sabath, B.L. Wood, C.L. Berg, S. Sassa, and J.L. Abkowitz Identification of a human heme exporter that is essential for erythropoeisis Cell 118 2004 757 766
9. R. Heyn, E. Kurczynski, and R. Schmickel The association of Blackfan-Diamond syndrome, physical abnormalities, and an abnormality of chromosome 1 J. Pediatr. 85 1974 531 533
10. L. Lipovich, A.L. Hughes, M-C. King, J.L. Abkowitz, and J.G. Quigley Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus Gene 286 2002 203 213
11. A.S. Whitehead, D.E. Woods, E. Fleishnick, J.E. Chin, E.J. Yunis, A.J. Katz, P.S. Gerald, C.A. Alper, and H.R. Colten DNA polymorphism of C4 genes: a new marker for analysis of the major histocompatibility complex NEJM 310 1984 88 91
12. S. Araki, J. Yang, M. Hashiramoto, M. Kasuga, and G.D. Holman Subcellular trafficking kinetics of GLUT4 mutated at the N- and C-termini Biochem. J. 315 1996 153 159
13. C.S. Tailor, B.J. Willett, and D. Kabat A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily J. Virol. 73 1999 6500 6505
14. J.L. Abkowitz, R.D. Holly, and J.W. Adamson Retrovirus-induced feline pure red cell aplasia: the kinetics of erythroid marrow failure J. Cell. Physiol. 132 1987 571 577
15. Y. Ohene-Abuakwa, K.A. Orfali, C. Marius, and S.E. Ball Two phase culture in Diamond Blackfan anemia: localization of erythroid defect Blood 105 2005 838 846