@article{0fbcc015e44e4c9c87aee9bbf2a89c74,
title = "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia",
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.",
author = "Satoshi Tsukada and Saffran, {Douglas C.} and Rawlings, {David J.} and Ornella Parolini and Allen, {R. Cutler} and Ivana Klisak and Sparkes, {Robert S.} and Hiromi Kubagawa and Thuluvancheri Mohandas and Shirley Quan and Belmont, {John W.} and Cooper, {Max D.} and Conley, {Mary Ellen} and Witte, {Owen N.}",
note = "Funding Information: We thank Michael Gilly and Randolph Wall for the 70213 cDNA library; Yoshiro Maru for human LTK probe; Jami McLaughlin and Kathleen Burke for preparation of B lymphoid progenitors and construction of the cDNA library; James lhle for personal communication; Charles Sawyers, Steve Smale, Danny Afar, Tim Hughes, and Mikhail Gishizky for critical reading of the manuscript; Chris Denny for providing the human cosmid library and helpful discussions; Robert Nussbaum for DNA from patients with choroideremia; M. B. Passage for technical assistance; Numan Parada for photography; Bill Biggs for computer design expertise and Kris Vensei and Julia Shimaoka for great assistance in preparation of the manuscript. S. T. is an Associate with the Howard Hughes Medical Institute. D. C. S. was an Associate with the Howard Hughes Medical Institute and is a Fellow with the Leukemia Society of America. D. J. R. is supported by a National Institutes of Health Immunology Training Grant. J. W. B. is an Assistant Investigator and M. D. C. and 0. N. W. are Investigators with the Howard Hughes Medical Institute. This work was supported by the Howard Hughes Medical Institute and Grants Al25129, A130879, and CA13148.",
year = "1993",
month = jan,
day = "29",
doi = "10.1016/0092-8674(93)90667-F",
language = "English (US)",
volume = "72",
pages = "279--290",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "2",
}