Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency

Nature Genetics

Volumn 34, Issue 1, 2003, Pages 59-64

  Paw, Barry H ^a,b,c   Davidson, Alan J ^a,b   Zhou, Yi ^a,b   Li, Rong ^b   Pratt, Stephen J ^a,b   Lee, Charles ^c   Trede, Nikolaus S ^a,b   Brownlie, Alison ^a,b,k   Donovan, Adriana ^a,b   Liao, Eric C ^a,b   Ziai, James M ^a,b   Drejer, Anna H ^a,b   Guo, Wen ^a,b   Kim, Carol H ^d   Gwynn, Babette ^e   Peters, Luanne L ^e   Chernova, Marina N ^b   Alper, Seth L ^b   Zapata, Agustin ^f   Wickramasinghe, Sunitha N ^g,h   Lee, Matthew J ^g,h   Lux, Samuel E ^a,b   Fritz, Andreas ⁱ   Postlethwait, John H ^j   Zon, Leonard I ^a,b   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d UNIVERSITY OF MAINE   (United States)

^e JACKSON LABORATORY   (United States)

^f UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^g UNIVERSITY OF OXFORD   (United Kingdom)

^h IMPERIAL COLLEGE LONDON   (United Kingdom)

ⁱ EMORY UNIVERSITY   (United States)

^j UNIVERSITY OF OREGON   (United States)

^k Xenon Genetics Inc   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CYTOSKELETON PROTEIN; ERYTHROCYTE BAND 3 PROTEIN; PROTEIN SLC4A1; UNCLASSIFIED DRUG;

ADAPTATION; ANIMAL CELL; ANIMAL TISSUE; ANION EXCHANGE; APOPTOSIS; ARTICLE; CELL DIVISION; CELL SPECIFICITY; CELL TYPE; CHROMOSOME; CHROMOSOME SEGREGATION; CONTROLLED STUDY; CYTOKINESIS; DYSERYTHROPOIESIS; EMBRYO; ERYTHROBLAST; ERYTHROID CELL; EUKARYOTE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HEREDITARY HEMOLYTIC ANEMIA; MITOSIS; MITOSIS INHIBITION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; ZEBRA FISH;

AMINO ACID SEQUENCE; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANIMALS; ANIMALS, GENETICALLY MODIFIED; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ERYTHROPOIESIS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MITOSIS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; ZEBRAFISH;

ANIMALIA; DANIO RERIO; EUKARYOTA;

EID: 0037994133     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1137     Document Type: Article

References (29)

1. Field, C., Li, R. & Oegema, K. Cytokinesis in eukaryotes: a mechanistic comparison. Curr. Opin. Cell Biol. 11, 68-80 (1999).
2. Ransom, D.G. et al. Characterization of zebrafish mutants with defects in embryonic hematopoiesis. Development 123, 311-319 (1996).
3. Fukuda, M.N. Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. Baillieres Clin. Haematol. 6, 493-511 (1993).
4. Wickramasinghe, S.N. Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev. 12, 178-200 (1998).
5. Liao, E.C. et al. Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid Β-spectrin structure, and function in red cell morphogenesis and membrane stability. Development 127, 5123-5132 (2000).
6. Shafizadeh, E. et al. Characterization of zebrafish meriotichablis as a nonmammalian vertebrate model for severe hereditary elliptocytosis due to protein 4.1 deficiency. Development 129, 4359-4370 (2002).
7. Alloisio, N. et al. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originating from the endoplasmic reticulum. Blood 87, 4433-4439 (1996).
8. Wei, Y. et al. Phosphorylation of histone H3 is required for proper chromosome condensation and segregation. Cell 97, 99-109 (1999).
9. Knapik, E.W. et al. A microsatellite genetic linkage map for zebrafish (Danio rerio) Nat. Genet. 18, 338-343 (1998).
10. Handin, R.I., Lux, S.E. & Stossel, T.P. Blood: Principles and Practice of Hematology. (J.P. Lippincott, Philadelphia, 1995).
11. Fritz, A., Rozowski, M., Walker, C. & Westerfield, M. Identification of selected gamma-ray induced deficiencies in zebrafish using multiplex polymerase chain reaction. Genetics 144, 1735-1745 (1996).
12. Peters, L.L. et al. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86, 917-927 (1996).
13. Peters L.L. et al. Failure of effective reticulocytosis in a new spontaneous band 3 deficient mouse strain (C3H/HeJ-wan) and in a subset of targeted band 3 null mice (B6,129 AE1-/-) suggests the presence of genetic modifiers of band 3 function in red blood cells. Blood 92 Suppl. 1, 301 (1998).
14. Sekler, I., Lo, R.S. & Kopito, R.R. A conserved glutamate is responsible for ion selectivity and pH dependence of the mammalian anion exchangers AE1 and AE2. J. Biol. Chem. 270, 28751-28758 (1995).
15. Chernova, M.N. et al. Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q. J. Gen. Physiol. 109. 345-360 (1997).
16. Jons, T. & Drenckhahn, D. Identification of the binding interface involved in linkage of cytoskeletal protein 4.1 to erythroid anion exchanger. EMBO J. 11, 2863-2867 (1992).
17. An, X-L. et al. Modulation of band 3-ankyrin interaction by protein 4.1. J. Biol. Chem. 271, 33187-33191 (1996).
18. Lombardo, C.R., Willardson, B.M., Low, P.S. Localization of the protein 4.1-binding site on the cytoplasmic domain of erythrocyte membrane band 3. J. Biol. Chem. 267, 9540-9546 (1992).
19. Shi, Z-T. et al. Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. J. Clin. Invest. 103, 331-340 (1999).
20. Krauss, S.W. et al. Structural protein 4.1 in the nucleus of human cells: dynamic rearrangements during cell division. J. Cell Biol. 137, 275-289 (1997).
21. Krauss, S.W. et al. Structural protein 4.1 is located in mammalian centrosomes. Proc. Natl. Acad. Sci. USA 94, 7297-7302 (1997).
22. Mattagajasingh, S.N. et al. A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein. J. Cell. Biol. 145, 29-43 (1999).
23. Krauss, S.W. et al. Two distinct domains of protein 4.1 critical for assembly of functional nuclei in vitro. J. Biol. Chem. 277, 44339-44346 (2002).
24. Perez-Ferreiro, C.M. et al. 4.1R protein associate with interphase microtubules in human T cells. J. Biol. Chem. 276, 44785-44791 (2001).
25. Gasparini, R et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome-wide search. Am. J. Hum. Genet. 61, 1112-1116 (1997).
26. Iolascon, A. et al. Genetic heterogeneity of congenital dyserythropoietic anemia type II. Blood 92, 2593-2594 (1998).
27. De Franceschi, L. et al. Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. Exp. Hematol. 26, 869-873 (1998).
28. Brownlie, A. et al. Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia. Nat. Genet. 20, 244-250 (1998).
29. Farr, C.J., Saiki, R.K., Erlich, H.A., McCormick, F. & Marshall, C.J. Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes. Proc. Natl. Acad. Sci. USA 85, 1629-1633 (1988).