A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient

Human Mutation

Volumn 27, Issue 4, 2006, Pages 370-375

  Du, Wei ^a   Kumaki, Satoru ^a   Uchiyama, Toru ^a   Yachie, Akihiro ^c   Looi, Chung Yeng ^a   Kawai, Shin ^a   Minegishi, Masayoshi ^b   Ramesh, Narayanaswamy ^d,e   Geha, Raif S ^d,e   Sasahara, Yoji ^a   Tsuchiya, Shigeru ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY HOSPITAL   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN; WISKOTT ALDRICH SYNDROME PROTEIN INTERACTING PROTEIN;

ADOLESCENT; ANIMAL CELL; ARTICLE; CASE REPORT; CELL GROWTH; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOCYTE SUBPOPULATION; MALE; MOSAICISM; NATURAL KILLER T CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RNA TRANSLATION; START CODON; T LYMPHOCYTE; WASP GENE; WISKOTT ALDRICH SYNDROME;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CERCOPITHECUS AETHIOPS; CODON, INITIATOR; COS CELLS; CYTOSKELETAL PROTEINS; GENES, T-CELL RECEPTOR BETA; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KILLER CELLS, NATURAL; LYMPHOCYTE SUBSETS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

ANIMALIA;

EID: 33645780233     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20308     Document Type: Article

References (26)

1. Aldrich RA, Steinburg AG, Campbell DC. 1954. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13:133-139.
2. Ariga T, Yamada M, Sakiyama Y, Tatsuzawa O. 1998. A case of Wiskott-Aldrich syndrome with dual mutations in Exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. Blood 92:699-701.
3. Ariga T, Kondoh T, Yamaguchi K, Yamada M, Sasaki S, Nelson DL, Ikeda H, Kobayashi K, Moriuchi H, Sakiyama Y. 2001. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol 166:5245-5249.
4. Badour K, Zhang J, Siminovitch KA. 2004. Involvement of the Wiskott-Aldrich syndrome protein and other actin regulatory adaptors in T cell activation. Semin Immunol 16:395-407.
5. Derry JM, Ochs HD, Francke U. 1994. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635-644.
6. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE. 1996. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 13:290-295.
7. Hirschhorn R. 2003. In vivo reversion to normal of inherited mutations in humans. J Med Genet 40:721-728.
8. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F. 2004. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 351:1409-1418.
9. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. 2004. Mutations of the Wiskott-Aldrich syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104:4010-4019.
10. Kawai S, Minegishi M, Ohashi Y, Sasahara Y, Kumaki S, Konno T, Miki H, Derry J, Nonoyama S, Miyawaki T, Horibe K, Tachibana N, Kudoh E, Yoshimura Y, Izumikawa Y, Sako M, Tsuchiya S. 2002. Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J Immunol Methods 260:195-205.
11. Konno A, Wada T, Schurman SH, Garabedian EK, Kirby M, Anderson SM, Candotti F. 2004. Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages. Blood 15:676-678.
12. Kozak M. 1987. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 20:8125-8148.
13. Kumaki S, Villa A, Asada H, Kawai S, Ohashi Y, Takahashi M, Hakozaki I, Nitanai E, Minegishi M, Tsuchiya S. 2001. Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency. Blood 98:1464-1468.
14. Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E. 2005. Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome. Blood 106:2815-2817.
15. Pittis MG, Ricci V, Guerci VI, Marcais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B. 2004. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Hum Mutat 24:186-187.
16. Ramesh N, Anton IM, Hartwig JH, Geha RS. 1997. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. Proc Natl Acad Sci USA 94:14671-14676.
17. Sasahara Y, Kawai S, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S. 2000. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. Eur J Pediatr 159:23-30.
18. Sasahara Y, Fujie H, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S. 2001. Epstein-Barr virus-associated Hodgkin's disease in a patient with Wiskott-Aldrich syndrome. Acta Pediatr 90:1348-1351.
19. Sasahara Y, Rachid R, Byrne M, de la Fuente MA, Abraham RT, Ramesh N, Geha RS. 2002. Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation. Mol Cell 10:1269-1281.
20. Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, Muller-Fleckenstein I, Horneff G, Schroten H, Fisher A, de Saint Basile G. 1996. A typical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 335:1563-1567.
21. Wada T, Schurman SH, Otsu M, Garabedian EK, Ochs HD, Nelson DL, Candotti F. 2001. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci USA 98:8697-8702.
22. Wada T, Jagadeesh GJ, Nelson DL, Candotti F. 2002. Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction. Hum Gene Ther 13:1039-1046.
23. Wada T, Konno A, Schurman SH, Garabedian EK, Anderson SM, Kirby M, Nelson DL, Candotti F. 2003. Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest 111:1389-1397.
24. Wada T, Schurman SH, Garabedian EK, Yachie A, Candotti F. 2005. Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome. Blood 106:3895-3897.
25. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. 1995. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 85:2471-2477.
26. Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD. 1995. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 86:3797-3804.