A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis

Experimental Hematology

Volumn 39, Issue 3, 2011, Pages

  Hughes, Michael R ^a   Anderson, Nicole ^b   Maltby, Steven ^a   Wong, Justin ^a   Berberovic, Zorana ^g   Birkenmeier, Connie S ^d   Haddon, D James ^a   Garcha, Kamal ^c   Flenniken, Ann ^g   Osborne, Lucy R ^b   Adamson, S Lee ^b,e   Rossant, Janet ^b,h   Peters, Luanne L ^d   Minden, Mark D ^b,i   Paulson, Robert F ^j   Wang, Chen ^f   Barber, Dwayne L ^b,i   McNagny, Kelly M ^a   Stanford, William L ^b,c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d JACKSON LABORATORY   (United States)

^e MOUNT SINAI HOSPITAL   (Canada)

^f MOUNT SINAI HOSPITAL   (Canada)

^g Toronto Centre for Phenogenomics   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ PRINCESS MARGARET HOSPITAL   (Canada)

^j PENNSYLVANIA STATE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; ANKYRIN 1; SPECTRIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ERYTHROCYTE GHOST; ERYTHROPOIESIS; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; HEMATOPOIESIS; HEREDITARY SPHEROCYTOSIS; HETEROZYGOSITY; HOMOZYGOSITY; IMMUNOREACTIVITY; MALE; MOUSE; MUTAGENESIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING;

MUS;

EID: 79951868966     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exphem.2010.12.009     Document Type: Article

References (37)

1. Flenniken A.M., Osborne L.R., Anderson N., et al. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development 2005, 132:4375-4386.
2. Perrotta S., Gallagher P., Mohandas N. Hereditary spherocytosis. Lancet 2008, 372:1411-1426.
3. Sato T., Vries R., Snippert H., et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature 2009, 459:262-265.
4. Gallagher P. Hematologically important mutations: ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis 2005, 35:345-347.
5. Eber S.W., Gonzalez J.M., Lux M.L., et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 1996, 13:214-218.
6. Eber S., Lux S.E. Hereditary spherocytosis-defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 2004, 41:118-141.
7. Bennett V., Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med 2008, 14:28-36.
8. Bennett V. Purification of an active proteolytic fragment of the membrane attachment site for human erythrocyte spectrin. J Biol Chem 1978, 253:2292-2299.
9. Peters L., Birkenmeier C., Bronson R., et al. Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol 1991, 114:1233-1241.
10. Kordeli E., Bennett V. Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice. J Cell Biol 1991, 114:1243-1259.
11. Zhou D., Birkenmeier C.S., Williams M.W., Sharp J.J., Barker J.E., Bloch R.J. Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle. J Cell Biol 1997, 136:621-631.
12. Birkenmeier C., Sharp J., Gifford E., Deveau S., Barker J. An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor. Genomics 1998, 50:79-88.
13. Gallagher P.G., Forget B.G. An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene. J Biol Chem 1998, 273:1339-1348.
14. Peters L.L., Turtzo L.C., Birkenmeier C.S., Barker J.E. Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice. Blood 1993, 81:2144-2149.
15. Gallagher P., Tse W., Scarpa A., Lux S., Forget B. Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. J Biol Chem 1997, 272:19220-19228.
16. Birkenmeier C.S., White R.A., Peters L.L., Hall E.J., Lux S.E., Barker J.E. Complex patterns of sequence variation and multiple 5' and 3' ends are found among transcripts of the erythroid ankyrin gene. J Biol Chem 1993, 268:9533-9540.
17. Birkenmeier C., Gifford E., Barker J. Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1. Hematol J 2003, 4:445-449.
18. Porter N.C., Resneck W.G., O'Neill A., Van Rossum D.B., Stone M.R., Bloch R.J. Association of small ankyrin 1 with the sarcoplasmic reticulum. Mol Membr Biol 2005, 22:421-432.
19. Rubtsov A.M., Lopina O.D. Ankyrins. FEBS Lett 2000, 482:1-5.
20. Ding Y., Kobayashi S., Kopito R. Mapping of ankyrin binding determinants on the erythroid anion exchanger, AE1. J Biol Chem 1996, 271:22494-22498.
21. Czogalla A., Jaszewski A.R., Diakowski W., Bok E., Jezierski A., Sikorski A.F. Structural insight into an ankyrin-sensitive lipid-binding site of erythroid beta-spectrin. Mol Membr Biol 2007, 24:215-224.
22. Ipsaro J., Huang L., Mondragón A. Structures of the spectrin-ankyrin interaction binding domains. Blood 2009, 113:5385-5393.
23. Stabach P., Simonovic I., Ranieri M., et al. The structure of the ankyrin-binding site of β-spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties. Blood 2009, 113:5377-5384.
24. Kodippili G.C., Spector J., Sullivan C., et al. Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes. Blood 2009, 113:6237-6245.
25. Hall T.G., Bennett V. Regulatory domains of erythrocyte ankyrin. J Biol Chem 1987, 262:10537-10545.
26. Davis L.H., Davis J.Q., Bennett V. Ankyrin regulation: an alternatively spliced segment of the regulatory domain functions as an intramolecular modulator. J Biol Chem 1992, 267:18966-18972.
27. Pao-Wen L., Chu-Jing S., Mariano T. Phosphorylation of ankyrin decreases its affinity for spectrin tetramer. J Biol Chem 1987, 60:14958-14964.
28. Gallagher P.G., Tse W.T., Scarpa A.L., Lux S.E., Forget B.G. Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin. Trans Assoc Am Physicians 1992, 105:268-277.
29. Justice M.J., Carpenter D.A., Favor J., et al. Effects of ENU dosage on mouse strains. Mamm Genome 2000, 11:484-488.
30. Girodon F., Garcon L., Bergoin E., et al. Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis. Br J Haematol 2008, 140:468-470.
31. Rank G., Sutton R., Marshall V., et al. Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant. Blood 2009, 113:3352-3362.
32. Raphael P., Takakuwa Y., Manno S., Liu S.C., Chishti A.H., Hanspal M. A cysteine protease activity from Plasmodium falciparum cleaves human erythrocyte ankyrin. Mol Biochem Parasitol 2000, 110:259-272.
33. Ozcan R., Jarolim P., Lux S.E., Ungewickell E., Eber S.W. Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol 2003, 122:669-677.
34. Bernstein SE. Hereditary disorders of the rodent erythron. In: Anonymous Genetics in Laboratory Animal Medicine: Proceedings of a Symposium Conducted at Boston, Massachusetts, July 22, 1968. National Academy of Sciences; 1969:9.
35. Bodine D.M., Birkenmeier C.S., Barker J.E. Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell 1984, 37:721-729.
36. Shear H.L., Roth E.F., Ng C., Nagel R.L. Resistance to malaria in ankyrin and spectrin deficient mice. Br J Haematol 1991, 78:555-560.
37. Ito C.Y., Li C.Y., Bernstein A., Dick J.E., Stanford W.L. Hematopoietic stem cell and progenitor defects in Sca-1/Ly-6A-null mice. Blood 2003, 101:517-523.