In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides

Archivum Immunologiae et Therapiae Experimentalis

Volumn 62, Issue 5, 2014, Pages 431-436

  Rattanachartnarong, Natthakorn ^a,b   Tongkobpetch, Siraprapa ^a,b   Chatchatee, Pantipa ^a   Daengsuwan, Tassalapa ^c   Ittiwut, Chupong ^a,b   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^c Bangkok Children's Hospital   (Thailand)

Author keywords

Antisense morpholino oligonucleotides; BTK; Mis splicing; X linked agammaglobulinemia

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; BRUTON TYROSINE KINASE; GENOMIC DNA; MESSENGER RNA; MORPHOLINO OLIGONUCLEOTIDE; AGAMMAGLOBULINAEMIA TYROSINE KINASE; PROTEIN TYROSINE KINASE;

ARTICLE; BACTEREMIA; CASE REPORT; CHILD; CONTROLLED STUDY; EXON; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; RNA EXTRACTION; RNA SPLICING; SEQUENCE ANALYSIS; SPLICING DEFECT; X LINKED AGAMMAGLOBULINEMIA; AGAMMAGLOBULINEMIA; CELL CULTURE; GENE EXPRESSION REGULATION; GENE THERAPY; GENETIC DISEASES, X-LINKED; GENETIC POLYMORPHISM; GENETICS; METABOLISM; MOLECULAR GENETICS; MONONUCLEAR CELL; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; THAILAND;

AGAMMAGLOBULINEMIA; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; GENETIC DISEASES, X-LINKED; GENETIC THERAPY; HUMANS; IN VITRO TECHNIQUES; INTRONS; LEUKOCYTES, MONONUCLEAR; MALE; MOLECULAR SEQUENCE DATA; MORPHOLINOS; MUTAGENESIS, INSERTIONAL; OLIGORIBONUCLEOTIDES, ANTISENSE; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE KINASES; RNA SPLICING; THAILAND;

EID: 84919839008     PISSN: 0004069X     EISSN: 16614917     Source Type: Journal    
DOI: 10.1007/s00005-014-0283-0     Document Type: Article

References (31)

1. Buggy JJ, Elias L (2012) Bruton tyrosine kinase (BTK) and its role in B-cell malignancy. Int Rev Immunol 31:119–132
2. Carvajal JJ, Cox D, Summerbell D et al (2001) A BAC transgenic analysis of the Mrf4/Myf5 locus reveals interdigitated elements that control activation and maintenance of gene expression during muscle development. Development 128:1857–1868
3. Conley ME, Dobbs AK, Quintana AM et al (2012) Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med 209:463–470
4. Corey DR, Abrams JM (2001) Morpholino antisense oligonucleotides: tools for investigating vertebrate development. Genome Biol 2:REVIEWS1015
5. D’Eufemia P, Nigro G, Celli M et al (2000) Low-dosage immunoglobulins for an infant with hypogammaglobulinemia, maple syrup urine disease, and parvovirus B19-associated aplastic crisis. J Pediatr Hematol Oncol 22:485–487
6. Dobbs AK, Yang T, Farmer D et al (2007) Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunol 179:2055–2059
7. Dominski Z, Kole R (1993) Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci USA 90:8673–8677
8. Du L, Gatti RA (2011) Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases. J Immunol Methods 365:1–7
9. Du L, Pollard JM, Gatti RA (2007) Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci USA 104:6007–6012
10. Ferrari S, Lougaris V, Caraffi S et al (2007a) Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med 204:2047–2051
11. Ferrari S, Zuntini R, Lougaris V et al (2007b) Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun 8:325–333
12. Friedman KJ, Kole J, Cohn JA et al (1999) Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 274:36193–36199
13. Goto M, Sawamura D, Nishie W et al (2006) Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Investig Dermatol 126:2614–2620
14. Hendriks RW, Bredius RG, Pike-Overzet K et al (2011) Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in man. Expert Opin Ther Targets 15:1003–1021
15. Kanegane H, Tsukada S, Iwata T et al (2000) Detection of Bruton’s tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol 120:512–517
16. Keerthikumar S, Raju R, Kandasamy K et al (2009) RAPID: resource of Asian primary immunodeficiency diseases. Nucleic Acids Res 37:D863–D867
17. Minegishi Y, Coustan-Smith E, Wang YH et al (1998) Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 187:71–77
18. Minegishi Y, Coustan-Smith E, Rapalus L et al (1999a) Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Investig 104:1115–1121
19. Minegishi Y, Rohrer J, Coustan-Smith E et al (1999b) An essential role for BLNK in human B cell development. Science 286:1954–1957
20. Moschese V, Orlandi P, Plebani A et al (2000) X-chromosome inactivation and mutation pattern in the Bruton’s tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group. Mol Med 6:104–113
21. Rodriguez-Pascau L, Coll MJ, Vilageliu L et al (2009) Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Hum Mutat 30:E993–E1001
22. Sawada A, Takihara Y, Kim JY et al (2003) A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Investig 112:1707–1713
23. Sideras P, Smith CI (1995) Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 59:135–223
24. Tsukada S, Saffran DC, Rawlings DJ et al (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279–290
25. Vacek M, Sazani P, Kole R (2003) Antisense-mediated redirection of mRNA splicing. Cell Mol Life Sci 60:825–833
26. Valiaho J, Smith CI, Vihinen M (2006) BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat 27:1209–1217
27. van Deutekom JC, Janson AA, Ginjaar IB et al (2007) Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357:2677–2686
28. Vihinen M, Mattsson PT, Smith CI (2000) Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA). Front Biosci 5:D917–D928
29. Witmer C, Young G (2013) Factor VIII inhibitors in hemophilia A: rationale and latest evidence. Ther Adv Hematol 4:59–72
30. Zhang YM, Tung CH, He J et al (2006) Construction of a novel chimera consisting of a chelator-containing Tat peptide conjugated to a morpholino antisense oligomer for technetium-99 m labeling and accelerating cellular kinetics. Nucl Med Biol 33:263–269
31. Zhao Y, Ishibashi S, Amaya E (2012) Reverse genetic studies using antisense morpholino oligonucleotides. Methods Mol Biol 917:143–154