BTKbase: The mutation database for X-linked agammaglobulinemia

Human Mutation

Volumn 27, Issue 12, 2006, Pages 1209-1217

  Väliaho, Jouni ^a   Smith, C I Edvard ^b   Vihinen, Mauno ^a,c  

^a UNIVERSITY OF TAMPERE   (Finland)

^b KAROLINSKA INSTITUTE   (Sweden)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

BTK; Genotype phenotype correlations; Immune deficiency; Immunodeficiency; Immunogenetics; Immunology; Mutation database; X linked agammaglobulinemia; XLA

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN CLASS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; B LYMPHOCYTE; BACTERIAL INFECTION; BIOINFORMATICS; BTK GENE; COMPUTER ANALYSIS; CPG ISLAND; CRYSTALLOGRAPHY; ENZYME STABILITY; ENZYME STRUCTURE; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HOST SUSCEPTIBILITY; HUMAN; IMMUNE DEFICIENCY; INFECTION SENSITIVITY; INFORMATION RETRIEVAL; INFORMATION STORAGE; LYMPHOCYTE COUNT; MISSENSE MUTATION; MOLECULAR MODEL; MUTATION DATABASE; MUTATION RATE; NUCLEAR MAGNETIC RESONANCE; NUCLEOTIDE SEQUENCE; PATIENT INFORMATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; REVIEW; SEQUENCE ANALYSIS; SEQUENCE DATABASE; STRUCTURE ACTIVITY RELATION; WEB BROWSER; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; AMINO ACID SEQUENCE; DATABASES, GENETIC; GENETIC DISEASES, X-LINKED; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; STRUCTURE-ACTIVITY RELATIONSHIP;

BACTERIA (MICROORGANISMS);

EID: 33750973379     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20410     Document Type: Review

References (54)

1. Broides A, Yang W, Conley ME. 2006. Genotype/phenotype correlations in X-linked agammaglobulinemia. Clin Immunol 118:195-200.
2. Conley ME. 2003. Genes required for B cell development. J Clin Invest 112:1636-1638.
3. Conley ME, Notarangelo LD, Etzioni A. 1999. Diagnostic criteria for primary immunodeficiencies. Clin Immunol 93:190-197.
4. den Dunnen JT, Antonarakis SE. 2000. Mutarion nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
5. Etzold T, Argos P. 1993. SRS-an indexing and retrieval tool for flat file data libraries. Comput Appl Biosci 9:49-57.
6. Fleisher TA, White RM, Broder S, Nissley SP, Blaese RM, Mulvihill JJ, Olive G, Waldmann TA. 1980. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med 302:1429-1434.
7. Hansson H, Mattsson PT, Allard P, Haapaniemi P, Vihinen M, Smith CIE, Hard T. 1998. Solution structure of the SH3 domain from Bruton's tyrosine kinase. Biochemistry 37:2912-2924.
8. Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Backesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CIE, Meindl A. 1998. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics 101:276-284.
9. Hyvönen M, Saraste M. 1997. Structure ot the PH domain and Btk morif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. EMBO J 16:3396-3404.
10. Jin H, Webster ADB, Vihinen M, Sideras P, Vořechovský I, Haromarström L, Bernatowska-Matuszkiewicz E, Smith CIE, Bobrow M, Vetrie D. 1995. Identification ot Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Hum Mol Genet 4:693-700.
11. Korpi M, Väliaho J, Vihinen M. 2000. Structure-function effects in primary immunodeficiencies. Scand J Immunol 52:226-232.
12. Lindvall JM, Bbmberg KE, Väliaho J, Vargas L, Heinonen JE, Berglöf A, Mohamed AJ, Nore BF, Vihinen M, Smith CIE. 2005. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev 203:200-215.
13. López-Granados E, Pérez de Diego R, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC. 2005. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. J Allergy Clin Immunol 116:690-697.
14. Maniar HS, Vihinen M, Webster ADB, Nilsson L, Smith CIE. 1995. Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Brk residues R562, W563, and A582. Clin Immunol Immunopathol 76:5198-5202.
15. Mao C, Zhou M, Uckun FM. 2001. Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia. J Biol Chem 276:41435-41443.
16. Márquez JA, Smith CIE, Petoukhov MV, Lo Surdo P, Mattsson PT, Knekr M, Westlund A, Scheffzek K, Saraste M, Svergun DI. 2003. Conformation ot full-length Bruton tyrosine kinase (Btk) from synchrotron X-ray solution scattering. EMBO J 22:4616-4624.
17. Mattsson PT, Lappalainen I, Backesjö CM, Brockmann E, Lauren S, Vihinen M, Smith CIE. 2000. Six X-linked agammaglobnlinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis. J Immunol 164:4170-4177.
18. Noordzij JG, de Bruin-Versteeg S, Hartwig NG, Weemaes CMR, Gerritsen EJA, Bernatowska E, van Lierde S, de Groot R, van Dongen JJM. 2002. XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. J Clin Immunol 22:306-318.
19. Okoh MP, Vihinen M. 1999. Pleckstrin homology domains of tec family protein kinases. Biochem Biophys Res Commun 265:151-157.
20. Ollila J, Lappalainen I, Vihinen M. 1996. Sequence specificity in CpG mutation hotspots. FEBS Lett 396:119-122.
21. Ortutay C, Väliaho J, Stenberg K, Vihinen M. 2005. KinMutBase: a registry of disease-causing mutations in protein kinase domains. Hum Mutat 25:435-442.
22. Park H, Wahl MI, Afar DE, Turck CW, Rawlings DJ, Tam C, Scharenberg AM, Kinet JP, Witte ON. 1996. Regulation of Btk function by a major autophosphorylation site within the SH3 domain. Immunity 4:515-525.
23. Pürilä H, Väliaho J, Vihinen M. 2006. Immunodeficiency mutation databases (IDbases). Human Mutation. Hum Mutat 27:1200-1208.
24. Rawlings DJ, Scharenberg AM, Park H, Wahl MI, Lin S, Kato RM, Fluckiger AC, Witte ON, Kinet JP. 1996. Activation of BTK by a phosphorylation mechanism initiated by SRC family kinases. Science 271:822-825.
25. Riikonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15:852-859.
26. Saha BK, Curtis SK, Vogler LB, Vihinen M. 1997. Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. Mol Med 3:477-485.
27. Saito K, Scharenberg AM, Kinet JP. 2001. Interaction between the Btk PH domain and phosphatidylinositol-3,4,5-trisphosphate directly regulates Btk. J Biol Chem 276:16201-16206.
28. Salim K, Bottomley MJ, Querfurth E, Zvelebil MJ, Gout I, Scaife R, Matgolis RL, Gigg R, Smith CIE, Driseoll PC, Waterfield MD, Panayotou G. 1996. Distinct specificity in the recognition of phosphoinositides by the pleckstrin homology domains of dynamin and Bruton's tyrosine kinase. EMBO J 15:6241-6250.
29. Samarghitean C, Väliaho J, Vihinen M. 2004. Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics. J Clin Immunol 24:53-61.
30. Sawada A. Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, Kubota K, Endo H, Onodera T, Ohta H, Ozono K, Hara J. 2003. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J Clin Invest 112:1707-1713.
31. Scriver CR, Nowacki PM, Lehväslaiho H. 1999. Guidelines and recommendations for content, structure, and deployment of mutation databases. Hum Mutat 13:344-350.
32. Shen B, Vihinen M. 2004. Conservation and covariance in PH domain sequences: physicochemical profile and information theoretical analysis of XLA-causing mutations in the Btk PH domain. Protein Eng Des Sel 17:267-276.
33. Sideras P, Smith CIE. 1995. Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 59:135-223.
34. Smith CIE, Baskin B, Humire-Greiff P, Zhou JN, Olsson PG, Maniar HS, Kjellén P, Lambris JD, Christensson B, Hammarström L, Benrley D, Vetrie D, Islam KB, Vořechovský I, Sideras P. 1994. Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. J Immunol 152:557-565.
35. Smith CIE, Bäckesjö CM, Berglöl A, Brandén LJ, Islam T, Mattsson PT, Mohamed AJ, Müller S, Nore B, Vihinen M. 1998. X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Brk kinase. Springer Semin Imnnmopathol 19:369-381.
36. Smith CIE, Islam TC, Mattsson PT, Mohamed AJ, Nore BF, Vihinen M. 2001. The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species. Bioessays 23:436-446.
37. Smith CIE, Witte ON. 1999. X-linked agammaglobulinemia: A disease of btk tyrosine kinase. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases. A molecular and genetic approach. New York, Oxford: Oxford University Press. p 263-284.
38. Speletas M, Kanariou M, Kanakoudi-Tsakalidou F, Papadopoulou-Alataki E, Arvanitidis K, Pardali E, Constantopoulos A, Kartalis G, Vihinen M, Sideras P, Ritis K. 2001. Analysis of Btk murations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. Scand J Immunol 54:321-327.
39. Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON. 1993. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279-290.
40. Väliaho J, Pusa M, Ylinen T, Vihinen M. 2002. IDR: the immunodeficiency resource. Nucleic Acids Res 30:232-234.
41. Vetrie D, Vořechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR. 1993. The gene involved in X-linked agammaglobulinaemia is a member of the src family ot protein-tyrosine kinases. Nature 361:226-233.
42. Vihinen M, Nilsson L, Smith CIE. 1994a. Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. Biochem Biophys Res Commun 205:1270-1277.
43. Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vořechovský I, Webster ADB, Notarangelo LD, Nilsson L, Sowadski JM, Smith CIE. 1994b. Structural basis tor chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci USA 91:12803-12807.
44. Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan SP, Litman GW, Notarangelo LD, Ochs HD, Rosen FS, Vertrie D, Webster ADB, Zegers BJM, Smith CIE. 1995a. BTKbase: a darabase ot XLA-causing mutations. Immunol Today 16:460-465.
45. Vihinen M, Zvelebil MJ, Zhu Q, Brooimans RA, Ochs HD, Zegers BJ, Nilsson L, Waterfield MD, Smith CIE. 1995b. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. Biochemistry 34:1475-1481.
46. Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan SP, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vořechovský I, Weiss M, Smith CIE. 1997a. BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res 25:166-171.
47. Vihinen M, Nore BF, Mattsson PT, Bäckesjö CM, Nars M, Koutaniemi S, Watanabe C, Lester T, Jones A, Ochs HD, Smith CIE. 1997b. Missense mutations effecting a conserved cysteine pair in the TH domain of Btk. FEBS Lett 413:205-210.
48. Vihinen M, Lehväslaiho H, Corton RDH. 1999. Immunodeficiency mutation databases. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases. A molecular and genetic approach. New York, Oxford: Oxford University Press. p 443-446.
49. Vihinen M, Durandy A. 2006. Primary immunodeficiencies: genotype-phenotype correlations. In: Fahis A, editor. Immunogenetics and human disease. Hoboken, NJ: John Wiley & Sons. p 443-460.
50. Vořechovský I, Vihinen M, de Saint Basile G, Honsova S, Hammarström L, Muller S, Nilsson L, Fischer A, Smith CIE. 1995. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet 4:51-58.
51. Wang Z, Moult J. 2001. SNPs, protein structure, and disease. Hum Mutat 17:263-270.
52. Yu L, Mohamed AJ, Vargas L, Berglöf A, Finn G, Lu KP, Smith CIE. 2006. Regulation of Bruton's tyrosine kinase (Btk) by the peptidyl-prolyl isomerase Pin1. J Biol Chem 281:18201-18207.
53. Yue P, Li Z, Moult J. 2005. Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol 353:459-473.
54. Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan SP, Nilsson L, Smith CIE, Witte ON, Chen S-H, Ochs HD. 1994. Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180:461-470.