Mutations of the human BTK gene coding for Bruton tyrosine kinase in X- linked agammaglobulinemia

Human Mutation

Volumn 13, Issue 4, 1999, Pages 280-285

  Vihinen, Mauno ^a   Kwan, Sau Ping ^b   Lester, Tracy ^c   Ochs, Hans D ^d   Resnick, Igor ^e   Väliaho, Jouni ^a   Conley, Mary Ellen ^f   Smith, C I Edvard ^g,h  

^a UNIVERSITY OF TAMPERE   (Finland)

^b RUSH MEDICAL COLLEGE   (United States)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e Ctrl Republican Paediatric Hospital   (Russian Federation)

^f ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^g KAROLINSKA INSTITUTE   (Sweden)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Bruton agammaglobulinemia tyrosine kinase; BTK; BTKbase; Database; Immunodeficiency; X linked agammaglobulinemia; XLA

Indexed keywords

PROTEIN TYROSINE KINASE;

DATA BASE; DIAGNOSTIC VALUE; DNA POLYMORPHISM; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVIEW; SEQUENCE ANALYSIS; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; HUMANS; LINKAGE (GENETICS); MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE KINASES; X CHROMOSOME;

EID: 0033058967     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L     Document Type: Review

References (34)

1. Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. 1998. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 62:1034-1043.
2. Fukuda M, Kojima T, Kabayama H, Mikoshiba K. 1996. Mutation of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity. J Biol Chem 271:30303-30306.
3. Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, Kurimoto M, Niida Y, Matsuoka H, Sakiyama Y, Iwata T, Tsuchiya S, Tatsuzawa O, Yoshizaki K, Kishimoto T. 1998. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 91:595-602.
4. Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, Camerino G. 1989. Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet 84:19-21.
5. Hansson H, Mattsson PE, Allard P, Haapaniemi P, Vihinen M, Smith CIE, Härd T. 1998. Solution structure of the SH3 domain from Bruton's tyrosine kinase. Biochemistry 37:2912-2924.
6. Jiang Y, Ma W, Wan Y, Kozasa T, Hatton S, Huang X-Y. 1998. The G protein Ga12 stimulates Bruton's tyrosine kinase and a rasGAP through a conserved PH/BM domain. Nature 395:808-813.
7. Hyvönen M, Saraste M. 1997. Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinemia. EMBO J 16:3396-3404.
8. Kwan S-P, Kunkel L, Bruns G, Wedgwood RI, Latt S, Rosen FS. 1986. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest 77:649-652.
9. Ma Y-C, Huang X-Y. 1998. Identification of the binding site for Gqa on its effector Bruton's tyrosine kinase. Proc Natl Acad Sci USA 95:12197-12201.
10. Mattsson P, Vihinen M, Smith CIE. 1996. X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase disease. BioEssays 10:825-834.
11. Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW. 1997. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res 7:315-329.
12. Ollila J, Lappalainen I, Vihinen M. 1996. Sequence specificity in CpG mutation hotspots. FEBS Lett 396:119-122.
13. Rawlings DJ, Saffran DC, Tsukada S, Largaespada DA, Grimaldi JC, Cohen L, Mohr RN, Bazan JF, Howard M, Copeland NG, Jenkins NA, Witte ON. 1993. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261:358-361.
14. Rohrer J, Conley ME. 1998. Transcriptional regulatory elements within the first intron of Bruton's tyrosine kinase. Blood 91:214-221.
15. Salim K, Bottomley MJ, Querfurth E, Zvelebil MJ, Gout I, Scaife R, Margolis RL, Gigg R, Smith CIE, Driscoll 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. EMBOJ 15:6241-6250.
16. Sideras P, Smith CIE. 1995. Molecular and cellular aspects of X-linked agammaglobulinemia. Adv Immunol 59:135-223.
17. Smith CIE, Baskin B, Humire-Greiff P, Zhou J-N, Olsson PG, Maniar HS, Kjellén P, Lambris JD, Christensson B, Hammarström L, Bentley D, Vetrie D, Islam KB, Vorechovský 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.
18. Smith CIE, Bäckesjö C-M, Berglöf A, Brandén L, Islam T, Mattson PT, Mohamed AJ, Müller S, Nore B, Vihinen M. 1998. X-linked agammaglobulinemia: lack of mature B lineage cells caused by mutations in the Btk kinase. Springer Semin Immunopathol 19:369-381.
19. Stenberg KAE, Riikonen PT, Vihinen M. 1999. KinMutBase - a database of human disease-causing protein kinase mutations. Nucleic Acids Res 27:362-364.
20. Thomas JD, Sideras P, Smith CIE, Vorechovský I, Chapman V, Paul WE. 1993. Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 261:355-358.
21. 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.
22. Vetrie D, Vorechovský 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 of protein-tyrosine kinases. Nature 361:226-233.
23. Vihinen M, Smith CIE. 1996. Structural aspects of signal transduction in B cells. Crit Rev Immunol 17:495-496.
24. Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovský I, Webster ADB, Notarangelo LD, Nilsson L, Sowadski JM, Smith CIE. 1994a) Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci USA 91:12803-12807.
25. Vihinen M, Nilsson L, Smith CIE. 1994b) Structural basis of SH2 domain mutations in X-linked agammaglobulinemia. Biochem Biophys Res Commun 205:1270-1277.
26. Vihinen M, Zvelebil MJJM, Zhu Q, Brooimans RA, Ochs HD, Zegers BJM, Nilsson L, Waterfield MD, Smith CIE. 1995a. Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. Biochem 34:1475-1481.
27. Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan S-P, Litman GW, Notarangelo LD, Ochs HD, Rosen FS, Vetrie D, Webster ADB, Zegers BJM, Smith CIE. 1995b. BTKbase: a database of XLA causing mutations. Immunol Today 16:460-465.
28. Vihinen M, Iwata T, Kinnon C, Kwan S-P, Ochs HD, Vorechovský I, Smith CIE. 1996. BTKbase, mutation database for X-linked agammaglobulinemia. Nucleic Acids Res 24:160-165.
29. Vihinen M, Mattsson P, Smith CIE. 1997a. Btk, the tyrosine kinase affected in X-linked agammaglobulinemia. Front Biosci 2:d27-42.
30. Vihinen M, Nore B, Mattsson PT, Bäckesjö C-M, Nars M, Koutaniemi S, Watanabe C, Lester T, Jones A, Ochs HD, Smith CIE. 1997b. Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. FEBS Lett 413:205-210.
31. Vihinen M, Brandau O, Brandén L, Kwan S-P, Lappalainen I, Lester T, Noordzij JG, Ochs HD, Ollila J, Pienaar SM, Riikonen P, Saha BK, Smith CIE. 1998. BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res 26:242-247.
32. Yao L, Kawakami Y, Kawakami T. 1994. The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C. Proc Natl Acad Sci USA 91:9175-9179.
33. Yao L, Suzuki H, Ozawa K, Deng J, Lehel C, Fukamachi H, Anderson W, Kawakami Y, Kawakami T. 1997. Interactions between protein kinase C and pleckstrin homology domains. J Biol Chem. 272:13033-13039.
34. Zhu Q, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan S-P, 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.