Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

American Journal of Hematology

Volumn 58, Issue 1, 1998, Pages 36-41

  Hayette, S ^a   Carre G ^a   Bozon, M ^a   Alloisio, N ^a   Maillet, P ^a,b   Wilmotte, R ^a   Pascal, O ^c   Reynaud, J ^d   Reman, O ^e   Stephan J L ^d   Morle L ^a,f   Delaunay, J ^a  

^a CNRS   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NORD   (France)

^e CAEN UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ LYON 1   (France)

Author keywords

ANK1 gene; Hereditary spherocytosis; Nonsense mutations; Truncated ankyrins

Indexed keywords

ANKYRIN;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; EXON; FEMALE; GENETIC VARIABILITY; HEREDITARY SPHEROCYTOSIS; HUMAN; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SPLENECTOMY; SPLENOMEGALY;

ADULT; AGED; ANKYRINS; BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; HUMANS; MUTATION; RNA, MESSENGER; SPHEROCYTOSIS, HEREDITARY; SPLENECTOMY; VARIATION (GENETICS);

EID: 0031924304     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199805)58:1<36::AID-AJH7>3.0.CO;2-1     Document Type: Article

References (23)

1. Gallagher PG, Tse WT, Scarpa AL, Lux SE, Forget BG: Structure and organisation of the human ankyrin-1 gene. Basis for complexity of the pre-mRNA processing. J Biol Chem 272:19220, 1997.
2. Peters LL, Lux SE: Ankyrins: Structure and function in normal cells and hereditary spherocytes. Semin Hematol 30:85, 1993.
3. Lux SE, Tse WT, Menninger JC, John KM, Harris P, Shalev O, Chilcote RR, Marchesi SL, Watkins PC, Bennett V, McIntosh S, Collins FS, Francke U, Ward DC, Forget BG: Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature 345:736, 1990.
4. Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schröter W, Forget BG, Lux SE: Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genet 13:214, 1996.
5. Miraglia del Giudice E, Hayette S, Bozon M, Perrotta S, Alloisio N, Vallier A, Iolascon A, Delaunay J, Morlé L: Ankyrin Napoli: A de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis. Br J Haematol 93:828, 1996.
6. Özcan R, Jarolim P, Brabec V, Lux SE, Eber SW: High frequency of frameshift/nonsense mutations of ankyrin-1 in Czech patients with dominant hereditary spherocytosis (DHS) (Abstr). Blood 88:5a, 1996.
7. Gallagher PG, Ferreira JDS, Saad STO, Kerbally J, Costa FF, Forget B: A recurring frameshift mutation of the ankyrin-1 gene associated with severe hereditary spherocytosis in Brazil (Abstr). Blood 88:6a, 1996.
8. Morlé L, Bozon M, Alloisio N, Vallier A, Hayette S, Pascal O, Monier D, Philippe N, Forget BG, Delaunay J: Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of ankyrin gene (ANK1), associated with spherocytosis. Am J Hematol 54:242, 1997.
9. Randon J, Miraglia del Giudice E, Bozon M, Perrotta S, De Vivo M, Iolascon A, Delaunay J, Morlé L: Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis. Three new ANK1 variants: ankyrin Bari, Napoli II and Anzio. Br J Haematol 96:500, 1997.
10. Lux SE, Palek J: Disorders of the red cell membrane. In Handin RI, Lux SE, Stossel TP (eds): "Blood, Principles and Practice of Hematology." Philadelphia: Lippincott, 1995, pp 1701-1818.
11. n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. Blood 85:3278, 1995.
12. Agre P, Orringer EP, Bennett V: Deficient red-cell spectrin in severe, recessively inherited spherocytosis. N Engl J Med 306:1155, 1982.
13. Jarolim P, Brabec V, Lambert S, Liu SC, Zheu Z, Palek J: Ankyrin Prague: A dominantly inherited mutation of the regulatory domain of ankyrin associated with hereditary spherocytosis (Abstr). Blood 76: 37a, 1990.
14. Rakovnik) (Abstr). Blood 82:5a, 1993.
15. Reman O, Carré G, Belloy F, Galateau F, Cheze S, Macro M, Leporrier M: Extramedullary haematopoiesis in hereditary spherocytosis simulating mediastinal tumour. Eur J Haematol 58:124, 1997.
16. Fairbanks G, Steck TL, Wallach DFH: Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 10:2606, 1971.
17. Delaunay J: Disorders of the erythrocyte membrane skeleton. In Davis S (ed): "Critical Reviews in Oncology/Hematology." Ireland Ltd.: Elsevier Scientific Publishers, 1995, 19, pp 79-110.
18. Jarolim P, Rubin HL, Brabec V, Palek J: A nonsense mutation 1669 Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (Band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J Clin Invest 95:941, 1995.
19. Cooper DN: Human gene mutations affecting RNA processing and translation. Ann Med 25:11, 1993.
20. Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR: The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680, 1993.
21. Belgrader P, Maquat LE: Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol Cell Biol 14:6326, 1994.
22. Hall TG, Bennett V: Regulatory domains of erythrocyte ankyrin. J Biol Chem 262:10537, 1987.
23. Davis LH, Davis JQ, Bennett V: Ankyrin regulation: An alternatively spliced segment of the regulatory domain functions as an intramolecular modulator. J Biol Chem 267:18966, 1992.