A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing

Blood

Volumn 91, Issue 11, 1998, Pages 4361-4367

  Dalla Venezia, N ^a   Maillet, P ^b   Morle L ^b   Roda, L ^b   Delaunay, J ^b   Baklouti, F ^b  

^a CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROCYTE BAND 4.1 PROTEIN; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; EXON; GENE DELETION; HEREDITARY ELLIPTOCYTOSIS; HUMAN; LYMPHOCYTE; PRIORITY JOURNAL; RETICULOCYTE;

EID: 2642708374     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.11.4361.411k21_4361_4367     Document Type: Article

References (34)

1. Lux S, Palek J: Disorders of the red cell membrane, in Handin RI, Lux SE, Stossel TP (eds): Blood: Principles and Practice of Hematology. Philadelphia, PA, Lippincott, 1995, p 1701
2. Delaunay J: Genetic disorders of the red cell membrane. Crit Rev Oncol Hematol 19:79, 1995
3. Conboy G: Structure, function, and molecular genetics of erythroid membrane skeletal protein 4.1 in normal and abnormal red blood cells. Semin Hematol 30:58, 1993
4. Pasternack G, Anderson R, Leto T, Marchesi V: Interaction between protein 4.1 and band 3. An alternative binding site for an element of the membrane skeleton. J Biol Chem 260:3676, 1985
5. Hemming N, Anstee D, Staricoff M, Tanner M, Mohandas N: Identification of the membrane attachment sites for protein 4.1 in the human erythrocyte. J Biol Chem 270:5360, 1995
6. Marfatia S, Lue R, Branton D, Chishti AH: Identification of the protein 4.1 binding interface on glycophorin C and p55, a homologue of the Drosophila discs-large tumor suppressor protein. J Biol Chem 270:715, 1995
7. Alloisio N, Dalla Venezia N, Rana A, Andrabi K, Texier P, Gilsanz F, Cartron JP, Delaunay J, Chishti AH: Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Blood 82:1323, 1993
8. Correas I, Leto T, Speicher D, Marchesi V: Identification of the functional site of erythrocyte protein 4.1 involved in spectrin-actin associations. J Biol Chem 261:3310, 1986
9. Horne W, Huang S, Becker P, Tang TK, Benz EJ Jr: Tissue-specific alternative splicing of protein 4.1 inserts an exon necessary for formation of the ternary complex with erythrocyte spectrin and F-actin. Blood 82:2558, 1993
10. Schischmanoff O, Winardi R, Discher D, Parra M, Bicknese S, Ewa Witkowska H, Conboy J, Mohandas N: Defining of the minimal domain of protein 4.1 involved in spectrin-actin binding. J Biol Chem 270:21243, 1995
11. Discher D, Winardi R, Schischmanoff O, Parra M, Conboy J, Mohandas N: Mechanochemistry of protein 4.1's spectrin-actin-binding domain: Ternary complex interactions, membrane binding, network integration, structural strengthening. J Cell Biol 130:897, 1995
12. Lorenzo F, Dalla Venezia N, Morlé L, Baklouti F, Alloisio N, Ducluzeau MT, Roda L, Lefrançois P, Delaunay J: Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton. J Clin Invest 94:1651, 1994
13. Tang CJ, Tang T: Rapid localization of membrane skeletal protein 4.1 (EL1) to human chromosome 1p33→p34.2 by nonradioactive in situ hybridization. Cytogenet Cell Genet 57:119, 1991
14. Tang T, Qin Z, Leto T, Marchesi V, Benz EJ Jr: Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues. J Cell Biol 110:617, 1990
15. Conboy J, Chan J, Chasis J, Kan Y, Mohandas N: Tissue- and development-specific alternative RNA splicing regulates expression of multiple isoforms of erythroid membrane protein 4.1. J Biol Chem 266:8273, 1991
16. Chasis J, Coulombel L, Conboy J, McGee S, Andrews K, Kan Y, Mohandas N: Differentiation-associated switches in protein 4.1 expression. Synthesis of multiple structural isoforms during normal human erythropoiesis. J Clin Invest 91:329, 1993
17. Baklouti F, Huang S, Tang T, Delaunay J, Marchesi V, Benz EJ Jr: Asynchronous regulation of splicing events within protein 4.1 pre-mRNA during erythroid differentiation. Blood 87:3934, 1996
18. Bennett V: The membrane skeleton of human erythrocytes and its implications for more complex cells. Annu Rev Biochem 54:273, 1985
19. Parra M, Gascard P, Walensky L, Snyder S, Mohandas N, Conboy J: Cloning of a novel human gene with high homology to the erythroid membrane skeletal protein 4.1. Mol Biol Cell Suppl 7:552a, 1996 (abstr)
20. Alloisio N, Morlé L, Dorléac E, Gentilhomme O, Bachir D, Guetarni D, Colonna P, Bost M, Zouaoui Z, Roda L, Roussel D, Delaunay J: The heterozygous form of 4.1(-) hereditary elliptocytosis (the 4.1(-) trait). Blood 65:46, 1985
21. Tchernia G, Mohandas N, Shohet S: Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. J Clin Invest 68:454, 1981
22. Dalla Venezia N, Gilsanz F, Alloisio N, Ducluzeau MT, Benz EJ Jr, Delaunay J: Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest 90:1713, 1992
23. Baklouti F, Huang S, Vulliamy T, Delaunay J, Benz EJ Jr: Organization of the human protein 4.1 genomic locus: New insights into the tissue-specific alternative splicing of the pre-mRNA. Genomics 39:289, 1997
24. Feddal S, Brunet G, Roda L, Chabanis S, Alloisio N, Morlé L, Ducluzeau MT, Marechal J, Robert JM, Benz EJ Jr, Delaunay J, Baklouti F: Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps. Blood 78:2113, 1991
25. Mathew J: The isolation of high molecular weight eucaryotic DNA, in Walda JM (eds): Methods in Molecular Biology (vol 2). Nucleic Acids. Clifton, NJ, Humana Press, 1984, p 31
26. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
27. Huang J, Tang CJ, Kou G, Marchesi V, Benz EJ Jr, Tang TK: Genomic structure of the locus encoding protein 4.1. Structural basis for complex combinational patterns of tissue-specific alternative RNA splicing. J Biol Chem 268:3758, 1993
28. Garbarz M, Devaux I, Bournier O, Grandchamp B, Dhermy D: Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4.1(-) hereditary elliptocytosis. Hum Mutat 5:339, 1995
29. Conboy J, Chasis J, Winardi R, Tchernia G, Kan YW, Mohandas N: An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. J Clin Invest 91:77, 1993
30. Chasis J, Coulombel L, McGee S, Lee G, Tchernia G, Conboy J, Mohandas N: Differential use of protein 4.1 translation initiation sites during erythropoiesis: Implications for a mutation-induced stage-specific deficiency of protein 4.1 during erythroid development. Blood 87:5324, 1996
31. Pirastu M, Saglio G, Chang J, Cao A, Kan YW: Initiation codon mutation as a cause of α thalassemia. J Biol Chem 259:12315, 1984
32. Moi P, Cash F, Liebhaber S, Cao A, Pirastu M: An initiation codon mutation (AUG→GUG) of the human α 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest 80:1416, 1984
33. Cooper D: Human gene mutations affecting RNA processing and translation. Ann Med 25:11, 1993
34. Baklouti F, Zhou J, Delaunay J, Huang SC, Benz EJ Jr: Characterization of cis-elements modulating regulated alternative splicing of exons encoding the spectrin/actin binding domain in protein 4.1 pre-mRNA. Blood 84:361a, 1994 (abstr, suppl 1)