Activation-induced cytidine deaminase splicing patterns in chronic lymphocytic leukemia

Blood Cells, Molecules, and Diseases

Volumn 44, Issue 4, 2010, Pages 262-267

  Marantidou, Foteini ^a,b   Dagklis, Antonis ^c   Stalika, Evangelia ^d   Korkolopoulou, Panagiota ^a   Saetta, Alina ^a   Anagnostopoulos, Achilles ^d   Laoutaris, Nikolaos ^b   Stamatopoulos, Kostas ^d   Belessi, Chrysoula ^b   Scouras, Zacharias ^c   Patsouris, Efstratios ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b GENERAL HOSPITAL OF NIKEA   (Greece)

^c ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^d G PAPANICOLAOU HOSPITAL   (Greece)

Author keywords

Activation induced cytidine deaminase; CLL; Immunoglobulin

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN HEAVY VARIABLE; IMMUNOGLOBULIN HEAVY VARIABLE[1-2]; IMMUNOGLOBULIN HEAVY VARIABLE[1-69]; IMMUNOGLOBULIN HEAVY VARIABLE[3-23]; IMMUNOGLOBULIN HEAVY VARIABLE[3-7]; IMMUNOGLOBULIN HEAVY VARIABLE[4-34]; IMMUNOGLOBULIN HEAVY VARIABLE[4-39]; LYMPHOCYTE MEMBRANE IMMUNOGLOBULIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; B CELL LEUKEMIA; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOMATIC HYPERMUTATION;

ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; B-LYMPHOCYTES; CYTIDINE DEAMINASE; FEMALE; GENE REARRANGEMENT, B-LYMPHOCYTE; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; IMMUNOGLOBULIN HEAVY CHAINS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, NEOPLASM; SOMATIC HYPERMUTATION, IMMUNOGLOBULIN; VDJ EXONS;

EID: 77950296359     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.12.005     Document Type: Article

References (50)

1. Chiorazzi N., Rai K.R., Ferrarini M. Chronic lymphocytic leukemia. N. Engl. J. Med. 2005, 352:804-815.
2. Ghia P., Chiorazzi N., Stamatopoulos K. Microenvironmental influences in chronic lymphocytic leukaemia: the role of antigen stimulation. J. Intern. Med. 2008, 264:549-562.
3. Fais F., Ghiotto F., Hashimoto S., et al. Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors. J. Clin. Invest. 1998, 102:1515-1525.
4. Chiorazzi N., Ferrarini M. B cell chronic lymphocytic leukemia: lessons learned from studies of the B cell antigen receptor. Annu. Rev. Immunol. 2003, 21:841-894.
5. Tobin G., Thunberg U., Johnson A., et al. Chronic lymphocytic leukemias utilizing the VH3-21 gene display highly restricted Vlambda2-14 gene use and homologous CDR3s: implicating recognition of a common antigen epitope. Blood 2003, 101:4952-4957.
6. Ghiotto F., Fais F., Valetto A., et al. Remarkably similar antigen receptors among a subset of patients with chronic lymphocytic leukemia. J. Clin. Invest. 2004, 113:1008-1016.
7. Messmer B.T., Albesiano E., Efremov D.G., et al. Multiple distinct sets of stereotyped antigen receptors indicate a role for antigen in promoting chronic lymphocytic leukemia. J. Exp. Med. 2004, 200:519-525.
8. Tobin G., Thunberg U., Karlsson K., et al. Subsets with restricted immunoglobulin gene rearrangement features indicate a role for antigen selection in the development of chronic lymphocytic leukemia. Blood 2004, 104:2879-2885.
9. Widhopf G.F., Rassenti L.Z., Toy T.L., et al. Chronic lymphocytic leukemia B cells of more than 1% of patients express virtually identical immunoglobulins. Blood 2004, 104:2499-2504.
10. Ghia P., Stamatopoulos K., Belessi C., et al. Geographic patterns and pathogenetic implications of IGHV gene usage in chronic lymphocytic leukemia: the lesson of the IGHV3-21 gene. Blood 2005, 105:1678-1685.
11. Thorselius M., Krober A., Murray F., et al. Strikingly homologous immunoglobulin gene rearrangements and poor outcome in VH3-21-utilizing chronic lymphocytic leukemia independent of geographical origin and mutational status. Blood 2006, 107:2889-2894.
12. Stamatopoulos K., Belessi C., Moreno C., et al. Over 20% of patients with chronic lymphocytic leukemia carry stereotyped receptors: pathogenetic implications and clinical correlations. Blood 2007, 109:259-270.
13. Murray F., Darzentas N., Hadzidimitriou A., et al. Stereotyped patterns of somatic hypermutation in subsets of patients with chronic lymphocytic leukemia: implications for the role of antigen selection in leukemogenesis. Blood 2008, 111:1524-1533.
14. Bomben R., Dal Bo M., Capello D., et al. Molecular and clinical features of chronic lymphocytic leukaemia with stereotyped B cell receptors: results from an Italian multicentre study. Br. J. Haematol. 2009, 144:492-506.
15. Darzentas N., Hadzidimitriou A., Murray F., et al. A different ontogenesis for chronic lymphocytic leukemia cases carrying stereotyped antigen receptors: molecular and computational evidence. Leukemia 2009, [electronic publication ahead of print].
16. Damle R.N., Wasil T., Fais F., et al. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood 1999, 94:1840-1847.
17. Hamblin T.J., Davis Z., Gardiner A., et al. Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 1999, 94:1848-1854.
18. Di Noia J.M., Neuberger M.S. Molecular mechanisms of antibody somatic hypermutation. Annu. Rev. Biochem. 2007, 76:1-22.
19. Teng G., Papavasiliou F.N. Immunoglobulin somatic hypermutation. Annu. Rev. Genet. 2007, 41:107-120.
20. Papavasiliou F.N., Schatz D.G. The activation-induced deaminase functions in a postcleavage step of the somatic hypermutation process. J. Exp. Med. 2002, 195:1193-1198.
21. Shinkura R., Ito S., Begum N., et al. Separate domains of AID are required for somatic hypermutation and class-switch recombination. Nat. Immunol. 2004, 5:707-712.
22. Cattoretti G., Büttner M., Shaknovich R., et al. Nuclear and cytoplasmic AID in extrafollicular and Germinal Center B cells. Blood 2006, 107:3967-3975.
23. Wu X., Darce J.R., Chang S.K., et al. Alternative splicing regulates activation-induced cytidine deaminase (AID): implications for suppression of AID mutagenic activity in normal and malignant B cells. Blood 2008, 112:4675-4682.
24. Gonda H., Sugai M., Nambu Y., et al. The balance between Pax5 and Id2 activities is the key to AID gene expression. J. Exp. Med. 2003, 198:1427-1437.
25. Dedeoglu F., Horwitz B., Chaudhuri J., et al. Induction of activation induced cytidine deaminase gene expression by IL-4 and CD40 ligation is dependent on STAT6 and NFkappaB. Int. Immunol. 2004, 16:395-404.
26. Albesiano E., Messmer B.T., Damle R.N., et al. Activation-induced cytidine deaminase in chronic lymphocytic leukemia B cells: expression as multiple forms in a dynamic, variably sized fraction of the clone. Blood 2003, 102:3333-3339.
27. McCarthy H., Wierda W.G., Barron L.L., et al. High expression of activation-induced cytidine deaminase (AID) and splice variants is a distinctive feature of poor-prognosis chronic lymphocytic leukaemia. Blood 2003, 101:4903-4908.
28. Oppezzo P., Vuillier F., Vasconcelos Y., et al. Chronic lymphocytic leukemia B cells expressing AID display dissociation between class switch recombination and somatic hypermutation. Blood 2003, 101:4029-4032.
29. Oppezzo P., Magnac C., Bianchi S., et al. Do CLL B cells correspond to naive or memory B-lymphocytes? Evidence for an active Ig switch unrelated to phenotype expression and Ig mutational pattern in B-CLL cells. Leukemia 2002, 16:2438-2446.
30. Cerutti A., Zan H., Kim E.C., et al. Ongoing In Vivo Immunoglobulin Class Switch DNA Recombination in Chronic Lymphocytic Leukemia B Cells. J. Immunol. 2002, 169:6594-6603.
31. Hallek M., Cheson B.D., Catovsky D., et al. International Workshop on Chronic Lymphocytic Leukemia. Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 2008, 111:5446-5456.
32. Stavroyianni N., Belessi C., Stamatopoulos K., et al. Expression of recombination activating genes-1 and -2 immunoglobulin heavy chain gene rearrangements in acute myeloid leukemia: evaluation of biological and clinical significance in a series of 76 uniformly treated patients and review of the literature. Haematologica 2003, 88:268-274.
33. Brochet X., Lefranc M.P., Giudicelli V. IMGT/V-QUEST: the highly customized and integrated system for IG and TR standardized V-J and V-D-J sequence analysis. Nucleic Acids Res. 2008, 36:W503-W508.
34. Lefranc M.P., Giudicelli V., Ginestoux C., et al. IMGT, the international ImMunoGeneTics information system. Nucleic Acids Res. 2009, 37:D1006-D1012.
35. Muto T., Muramatsu M., Taniwaki M., et al. Isolation, tissue distribution, and chromosomal localization of the human activation induced cytidine deaminase (AID) gene. Genomics 2000, 68:85-88.
36. Bransteitter R., Pham P., Scharff M.D., Goodman M.F. Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNase. Proc. Natl. Acad. Sci. U S A. 2003, 100:4102-4107.
37. Ito S., Nagaoka H., Shinkura R., et al. Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:1975-1980.
38. Petersen-Mahrt S.K., Harris R.S., Neuberger M.S. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 2002, 418:99-103.
39. Shivarov V., Shinkura R., Honjo T. Dissociation of in vitro DNA deamination activity and physiological functions of AID mutants. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:15866-15871.
40. van Maldegem F., Scheeren F.A., Aarti Jibodh R., et al. AID splice variants lack deaminase activity. Blood 2009, 113:1862-1864.
41. Smit L.A., van Maldegem F., Langerak A.W., et al. Antigen receptors and somatic hypermutation in B-cell chronic lymphocytic leukemia with Richter's transformation. Haematologica 2006, 91:903-911.
42. Oppezzo P., Dumas G., Lalanne A.I., et al. Different isoforms of BSAP regulate expression of AID in normal and chronic lymphocytic leukemia B cells. Blood 2005, 105:2495-2503.
43. Heintel D., Kroemer E., Kienle D., et al. High expression of activation-induced cytidine deaminase (AID) mRNA is associated with unmutated IGVH gene status and unfavourable cytogenetic aberrations in patients with chronic lymphocytic leukaemia. Leukemia 2004, 18:756-762.
44. Hentze M.W., Kulozik A.E. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999, 96:307-310.
45. Wang J., Shinkura R., Muramatsu M., et al. Identification of a specific domain required for dimerization of activation-induced cytidine deaminase. J. Biol. Chem. 2006, 281:19115-19123.
46. Potter K.N., Mockridge C.I., Neville L., et al. Structural and functional features of the B-cell receptor in IgG-positive chronic lymphocytic leukemia. Clin. Cancer Res. 2006, 12:1672-1679.
47. Jackson S.M., Harp N., Patel D., et al. Key developmental transitions in human germinal center B cells are revealed by differential CD45RB expression. Blood 2009, 113:3999-4007.
48. Ghia P., Guida G., Stella S., et al. The pattern of CD38 expression defines a distinct subset of chronic lymphocytic leukemia (CLL) patients at risk of disease progression. Blood 2003, 101:1262-1269.
49. Damle R.N., Temburni S., Calissano C., et al. CD38 expression labels an activated subset within chronic lymphocytic leukemia clones enriched in proliferating B cells. Blood 2007, 110:3352-3359.
50. Kröber A., Seiler T., Benner A., et al. V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood 2002, 100:1410-1416.