Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

Ornella Parolini, Satoshi Tsukada, Douglas C. Saffran, David J. Rawlings, R.Cutler Allen, Ivana Klisak, Robert S. Sparkes, Hiromi Kubagawa, Thuluvancheri Mohandas, Shirley Quan, John W. Belmont, Max D. Cooper, Mary Ellen Conley, Owen N. Witte

Risultato della ricerca: Contributo in rivistaArticolo in rivista

1057 Citazioni (Scopus)

Abstract

We describe a novel cytoplasmic tyrosine kinase, termed BPK (B cell progenitor kinase), which is expressed in all stages of the B lineage and in myeloid cells. BPK has classic SH1, SH2, and SH3 domains, but lacks myristylation signals and a regulatory phosphorylation site corresponding to tyrosine 527 of c-src. BPK has a long, basic amino-terminal region upstream of the SH3 domain. BPK was evaluated as a candidate for human X-linked agammaglobulinemia (XLA), an inherited immunodeficiency characterized by a severe deficit of B and plasma cells and profound hypogammaglobulinemia. BPK mapped to within 100 kb of a probe defining the polymorphism most closely linked to XLA at DXS178. Reduction in or the absence of BPK mRNA, protein expression, and kinase activity was observed in XLA pre-B and B cell lines. BPK is likely the XLA gene and functions in pathways critical to B cell expansion.
Lingua originaleEnglish
pagine (da-a)279-290
Numero di pagine12
RivistaCell
Volume72
DOI
Stato di pubblicazionePubblicato - 1993

Keywords

  • Agammaglobulinemia
  • Amino Acid Sequence
  • Animals
  • B-Lymphocytes
  • Blotting, Northern
  • Blotting, Southern
  • Cell Line
  • Chromosome Mapping
  • Cloning, Molecular
  • Cosmids
  • Cytoplasm
  • DNA
  • Heterozygote Detection
  • Humans
  • Hybrid Cells
  • Mice
  • Molecular Sequence Data
  • Protein-Tyrosine Kinases
  • RNA, Messenger
  • Sequence Homology, Amino Acid
  • Transcription, Genetic
  • Tumor Cells, Cultured
  • X Chromosome

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