Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation

Genes and Immunity

Volumn 14, Issue 4, 2013, Pages 223-233

  Teh, C E ^a   Horikawa, K ^a   Arnold, C N ^b   Beutler, B ^b,c   Kucharska, E M ^a   Vinuesa, C G ^a   Bertram, E M ^a   Goodnow, C C ^a   Enders, A ^a  

^a Australian National University   (Australia)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

mis sense mutation; protein kinase C ; T independent antibody response

Indexed keywords

INTERLEUKIN 2 RECEPTOR ALPHA; POLYSACCHARIDE; POLYSACCHARIDE ANTIBODY; PROTEIN KINASE C BETA; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANTIBODY ISOLATION; ANTIBODY PRODUCTION; ANTIBODY RESPONSE; ARTICLE; AUTOPHOSPHORYLATION; B LYMPHOCYTE; CELL FRACTIONATION; CELL STIMULATION; CONTROLLED STUDY; DNA SYNTHESIS; ENZYME SUBSTRATE; HETEROZYGOTE; HOMOZYGOTE; MALE; MISSENSE MUTATION; MOLECULAR DOCKING; MOUSE; NONHUMAN; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ANIMALS; B-LYMPHOCYTE SUBSETS; BINDING SITES; GENOME; HETEROZYGOTE; IMMUNOGLOBULINS; MALE; MICE; MICE, INBRED C57BL; MUTATION, MISSENSE; PEDIGREE; PROTEIN KINASE C BETA;

MUS;

EID: 84878948772     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2013.11     Document Type: Article

References (41)

1. Scher I. The CBA/N mouse strain: an experimental model illustrating the influence of the X-chromosome on immunity. Adv Immunol 1982; 33: 1-71.
2. Moresco EM, LaVine D, Beutler B. Toll-like receptors. Curr Biol 2011; 21: R488-R493.
3. Brunswick M, Finkelman FD, Highet PF, Inman JK, Dintzis HM, Mond JJ. Picogram quantities of anti-Ig antibodies coupled to dextran induce B cell proliferation. J Immunol 1988; 140: 3364-3372.
4. Dintzis RZ, Middleton MH, Dintzis HM. Studies on the immunogenicity and tolerogenicity of T-independent antigens. J Immunol 1983; 131: 2196-2203. (Pubitemid 13023926)
5. Pillai S, Cariappa A, Moran ST. Marginal zone B cells. Annu Rev Immunol 2005; 23: 161-196. (Pubitemid 40563168)
6. Alugupalli KR, Leong JM, Woodland RT, Muramatsu M, Honjo T, Gerstein RM. B1b lymphocytes confer T cell-independent long-lasting immunity. Immunity 2004; 21: 379-390. (Pubitemid 39208339)
7. Haas KM, Poe JC, Steeber DA, Tedder TF. B-1a and B-1b cells exhibit distinct developmental requirements and have unique functional roles in innate and adaptive immunity to S. pneumoniae. Immunity 2005; 23: 7-18. (Pubitemid 41019653)
8. Mond JJ, Vos Q, Lees A, Snapper CM. T cell independent antigens. Curr Opin Immunol 1995; 7: 349-354.
9. Carr TF, Koterba AP, Chandra R, Grammer LC, Conley DB, Harris KE et al. Characterization of specific antibody deficiency in adults with medically refractory chronic rhinosinusitis. Am J Rhinol Allergy 2011; 25: 241-244.
10. Faden H. The microbiologic and immunologic basis for recurrent otitis media in children. Eur J Pediatr 2001; 160: 407-413. (Pubitemid 32662358)
11. Kaur R, Casey JR, Pichichero ME. Serum antibody response to three non-typeable Haemophilus influenzae outer membrane proteins during acute otitis media and nasopharyngeal colonization in otitis prone and non-otitis prone children. Vaccine 2011; 29: 1023-1028.
12. Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun 2010; 1: 131.
13. Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG et al. Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci USA 2011; 108: 11983-11988.
14. Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science (New York, NY) 2012; 336: 740-743.
15. Nelson MR, Wegmann D, Ehm MG, Kessner St D, Jean P, Verzilli C et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science 2012; 337: 100-104.
16. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-69.
17. MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012; 335: 823-828.
18. Vinuesa CG, Goodnow CC. Illuminating autoimmune regulators through controlled variation of the mouse genome sequence. Immunity 2004; 20: 669-679. (Pubitemid 38757438)
19. Nelms KA, Goodnow CC, Genome-wide ENU. mutagenesis to reveal immune regulators. Immunity 2001; 15: 409-418.
20. Leitges M, Schmedt C, Guinamard R, Davoust J, Schaal S, Stabel S et al. Immunodeficiency in protein kinase cbeta-deficient mice. Science 1996; 273: 788-791. (Pubitemid 26271522)
21. Newton AC. Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions. Chem Rev 2001; 101: 2353-2364. (Pubitemid 35373023)
22. Dutil EM, Toker A, Newton AC. Regulation of conventional protein kinase C isozymes by phosphoinositide-dependent kinase 1 (PDK-1). Curr Biol 1998; 8: 1366-1375. (Pubitemid 29020145)
23. Behn-Krappa A, Newton AC. The hydrophobic phosphorylation motif of conventional protein kinase C is regulated by autophosphorylation. Curr Biol 1999; 9: 728-737. (Pubitemid 29350851)
24. Toellner KM, Luther SA, Sze DM, Choy RK, Taylor DR, MacLennan IC et al. T helper 1 (Th1) and Th2 characteristics start to develop during T cell priming and are associated with an immediate ability to induce immunoglobulin class switching. J Exp Med 1998; 187: 1193-1204. (Pubitemid 28189109)
25. Khan WN, Alt FW, Gerstein RM, Malynn BA, Larsson I, Rathbun G et al. Defective B cell development and function in Btk-deficient mice. Immunity 1995; 3: 283-299.
26. Wang D, Feng J, Wen R, Marine JC, Sangster MY, Parganas E et al. Phospholipase Cgamma2 is essential in the functions of B cell and several Fc receptors. Immunity 2000; 13: 25-35.
27. Jun JE, Wilson LE, Vinuesa CG, Lesage S, Blery M, Miosge LA et al. Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis. Immunity 2003; 18: 751-762. (Pubitemid 36776425)
28. Shinohara H, Maeda S, Watarai H, Kurosaki T. IkappaB kinase beta-induced phosphorylation of CARMA1 contributes to CARMA1 Bcl10 MALT1 complex formation in B cells. J Exp Med 2007; 204: 3285-3293.
29. Sommer K, Guo B, Pomerantz JL, Bandaranayake AD, Moreno-Garcia ME, Ovechkina YL et al. Phosphorylation of the CARMA1 linker controls NF-kappaB activation. Immunity 2005; 23: 561-574. (Pubitemid 41779479)
30. House C, Kemp BE. Protein kinase C contains a pseudosubstrate prototope in its regulatory domain. Science (New York, NY) 1987; 238: 1726-1728. (Pubitemid 18046276)
31. House C, Robinson PJ, Kemp BE. A synthetic peptide analog of the putative substrate-binding motif activates protein kinase C. FEBS Lett 1989; 249: 243-247. (Pubitemid 19143471)
32. Orr JW, Newton AC. Intrapeptide regulation of protein kinase C. J Biolog Chem 1994; 269: 8383-8387. (Pubitemid 24200257)
33. Hansra G, Garcia-Paramio P, Prevostel C, Whelan RD, Bornancin F, Parker PJ. Multisite dephosphorylation and desensitization of conventional protein kinase C isotypes. Biochem J 1999; 342(Pt 2): 337-344. (Pubitemid 29425355)
34. Kawakami Y, Kitaura J, Hartman SE, Lowell CA, Siraganian RP, Kawakami T. Regulation of protein kinase CbetaI by two protein-tyrosine kinases, Btk and Syk. Proc Natl Acad Sci USA 2000; 97: 7423-7428. (Pubitemid 30431479)
35. Patke A, Mecklenbrauker I, Erdjument-Bromage H, Tempst P, Tarakhovsky A. BAFF controls B cell metabolic fitness through a PKC beta-and Akt-dependent mechanism. J Exp Med 2006; 203: 2551-2562. (Pubitemid 44664624)
36. Su TT, Guo B, Kawakami Y, Sommer K, Chae K, Humphries LA et al. PKC-beta controls I kappa B kinase lipid raft recruitment and activation in response to BCR signaling. Nat Immunol 2002; 3: 780-786.
37. Eris JM, Basten A, Brink R, Doherty K, Kehry MR, Hodgkin PD. Anergic self-reactive B cells present self antigen and respond normally to CD40-dependent T-cell signals but are defective in antigen-receptor-mediated functions. Proc Natl Acad Sci USA 1994; 91: 4392-4396. (Pubitemid 24143439)
38. Sampson SR, Cooper DR. Specific protein kinase C isoforms as transducers and modulators of insulin signaling. Mol Genet Metab 2006; 89: 32-47. (Pubitemid 44205471)
39. Arnold CN, Barnes MJ, Berger M, Blasius AL, Brandl K, Croker B et al. ENU-induced phenovariance in mice: inferences from 587 mutations. BMC Res Notes 2012; 5: 577.
40. Cornall RJ, Cyster JG, Hibbs ML, Dunn AR, Otipoby KL, Clark EA et al. Polygenic autoimmune traits: Lyn, CD22, and SHP-1 are limiting elements of a biochemical pathway regulating BCR signaling and selection. Immunity 1998; 8: 497-508. (Pubitemid 28196803)
41. Miosge LA, Blasioli J, Blery M, Goodnow CC. Analysis of an ethylnitrosoureagenerated mouse mutation defines a cell intrinsic role of nuclear factor kappaB2 in regulating circulating B cell numbers. J Exp Med 2002; 196: 1113-1119. (Pubitemid 35231770)