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

Cell. 1993 Jan 29;72(2):279-90. doi: 10.1016/0092-8674(93)90667-f.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Agammaglobulinemia / enzymology*
  • Agammaglobulinemia / genetics*
  • Agammaglobulinemia / immunology
  • Amino Acid Sequence
  • Animals
  • B-Lymphocytes / enzymology*
  • Blotting, Northern
  • Blotting, Southern
  • Cell Line
  • Chromosome Mapping
  • Cloning, Molecular
  • Cosmids
  • Cytoplasm / enzymology
  • DNA / genetics
  • DNA / isolation & purification
  • Genetic Carrier Screening
  • Humans
  • Hybrid Cells / cytology
  • Mice
  • Molecular Sequence Data
  • Protein-Tyrosine Kinases / deficiency*
  • Protein-Tyrosine Kinases / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Homology, Amino Acid
  • Transcription, Genetic
  • Tumor Cells, Cultured
  • X Chromosome*

Substances

  • RNA, Messenger
  • DNA
  • Protein-Tyrosine Kinases

Associated data

  • GENBANK/L08967
  • GENBANK/L20977
  • GENBANK/L33702
  • GENBANK/L33703
  • GENBANK/L33704
  • GENBANK/L33705
  • GENBANK/L33706
  • GENBANK/L33707
  • GENBANK/L33708
  • GENBANK/L33709