Abstract
The cytoplasmic tyrosine kinase, Bruton's tyrosine kinase (Btk, formerly bpk or atk), is crucial for B cell development. Loss of kinase activity results in the human immunodeficiency, X-linked agammaglobulinemia, characterized by a failure to produce B cells. In the murine X-linked immunodeficiency (XID), B cells are present but respond abnormally to activating signals. The Btk gene, btk , was mapped to the xid region of the mouse X chromosome by interspecific backcross analysis. A single conserved residue within the amino terminal unique region of Btk was mutated in XID mice. This change in xid probably interferes with normal B cell signaling mediated by Btk protein interactions.
Bibliography
Rawlings, D. J., Saffran, D. C., Tsukada, S., Largaespada, D. A., Grimaldi, J. C., Cohen, L., Mohr, R. N., Bazan, J. F., Howard, M., Copeland, N. G., Jenkins, N. A., & Witte, O. N. (1993). Mutation of Unique Region of Brutonâs Tyrosine Kinase in Immunodeficient XID Mice. Science, 261(5119), 358â361.
Authors
12
- David J. Rawlings (first)
- Douglas C. Saffran (additional)
- Satoshi Tsukada (additional)
- David A. Largaespada (additional)
- J. Christopher Grimaldi (additional)
- Lucie Cohen (additional)
- Randolph N. Mohr (additional)
- J. Fernando Bazan (additional)
- Maureen Howard (additional)
- Neal G. Copeland (additional)
- Nancy A. Jenkins (additional)
- Owen N. Witte (additional)
References
40
Referenced
686
- Handbook on Genetically Standardized JAX Mice 4 9 (1990).
-
BENNER, S.A., CURR OPIN STRUC BIOL 2: 402 (1992).
(
10.1016/0959-440X(92)90232-V
) / CURR OPIN STRUC BIOL (1992) -
BROWN, S. D. M., MAMMALIAN GENOME 3: S274 (1992).
(
10.1007/BF00648438
) / MAMMALIAN GENOME (1992) -
CHUNG, H.Y., B-CELL DEFICIENCY PROGRESSES WITH LINEAGE MATURATION IN NUDE X-LINKED IMMUNODEFICIENT MICE B-CELL DEFICIENCY PROGRESSES WITH LINEAGE MATURATION, JOURNAL OF IMMUNOLOGY 149: 3456 (1992).
(
10.4049/jimmunol.149.11.3456
) / JOURNAL OF IMMUNOLOGY (1992) -
CLARK, E.A., REGULATION OF HUMAN B-CELL ACTIVATION AND ADHESION, ANNUAL REVIEW OF IMMUNOLOGY 9: 97 (1991).
(
10.1146/annurev.iy.09.040191.000525
) / ANNUAL REVIEW OF IMMUNOLOGY (1991) -
CONLEY, M.E., B-CELLS IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA, JOURNAL OF IMMUNOLOGY 134: 3070 (1985).
(
10.4049/jimmunol.134.5.3070
) / JOURNAL OF IMMUNOLOGY (1985) -
CONLEY, M.E., EXPRESSION OF THE GENE DEFECT IN X-LINKED AGAMMAGLOBULINEMIA, NEW ENGLAND JOURNAL OF MEDICINE 315: 564 (1986).
(
10.1056/NEJM198608283150907
) / NEW ENGLAND JOURNAL OF MEDICINE (1986) 10.1016/0168-9525(91)90085-5
-
DEFRANCO, A.L., TYROSINE PHOSPHORYLATION AND THE MECHANISM OF SIGNAL TRANSDUCTION BY THE LYMPHOCYTE-B ANTIGEN RECEPTOR, EUROPEAN JOURNAL OF BIOCHEMISTRY 210: 381 (1992).
(
10.1111/j.1432-1033.1992.tb17432.x
) / EUROPEAN JOURNAL OF BIOCHEMISTRY (1992) -
FORRESTER, L.M., DEVELOPMENT OF LYMPHOCYTES-B IN MICE HETEROZYGOUS FOR THE X-LINKED IMMUNODEFICIENCY (XID) MUTATION - XID INHIBITS DEVELOPMENT OF ALL SPLENIC AND LYMPH-NODE B-CELLS AT A STAGE SUBSEQUENT TO THEIR INITIAL FORMATION IN BONE-MARROW, JOURNAL OF EXPERIMENTAL MEDICINE 165: 949 (1987).
(
10.1084/jem.165.4.949
) / JOURNAL OF EXPERIMENTAL MEDICINE (1987) -
GAUL, U, A PUTATIVE RAS GTPASE ACTIVATING PROTEIN ACTS AS A NEGATIVE REGULATOR OF SIGNALING BY THE SEVENLESS RECEPTOR TYROSINE KINASE, CELL 68: 1007 (1992).
(
10.1016/0092-8674(92)90073-L
) / CELL (1992) -
GO, N.F., INTERLEUKIN-10, A NOVEL B-CELL STIMULATORY FACTOR - UNRESPONSIVENESS OF X-CHROMOSOME LINKED IMMUNODEFICIENCY-B CELLS, JOURNAL OF EXPERIMENTAL MEDICINE 172: 1625 (1990).
(
10.1084/jem.172.6.1625
) / JOURNAL OF EXPERIMENTAL MEDICINE (1990) - Green, E. L., Genetics and Probability in Animal Breeding Experiments: 77 (1981). / Genetics and Probability in Animal Breeding Experiments (1981)
- GREGORY, R.J., PRIMARY SEQUENCE AND DEVELOPMENTAL EXPRESSION OF A NOVEL DROSOPHILA-MELANOGASTER SRC GENE, MOLECULAR AND CELLULAR BIOLOGY 7: 2119 (1987). / MOLECULAR AND CELLULAR BIOLOGY (1987)
-
GRIBSKOV, M, PROFILE ANALYSIS, METHODS IN ENZYMOLOGY 183: 146 (1990).
(
10.1016/0076-6879(90)83011-W
) / METHODS IN ENZYMOLOGY (1990) -
HARDY, R.R., DEMONSTRATION OF B-CELL MATURATION IN X-LINKED IMMUNODEFICIENT MICE BY SIMULTANEOUS 3-COLOR IMMUNOFLUORESCENCE, NATURE 306: 270 (1983).
(
10.1038/306270a0
) / NATURE (1983) - HARDY, R.R., SEMIN IMMUNOL 2: 197 (1990). / SEMIN IMMUNOL (1990)
- HEYECK, S.D., DEVELOPMENTAL REGULATION OF A MURINE T-CELL-SPECIFIC TYROSINE KINASE GENE, TSK, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 90: 669 (1993). / PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (1993)
- HILLYARD, A.L., MOUSE GENOME 90: 8 (1992). / MOUSE GENOME (1992)
- Innis, M. A., PCR Protocols: A Guide to Methods and Applications: 3 (1990). / PCR Protocols: A Guide to Methods and Applications (1990)
- Kawasaki, E. S., PCR Protocols: A Guide to Methods and Applications: 21 (1990). / PCR Protocols: A Guide to Methods and Applications (1990)
-
Hitoshi, Y., International Immunology 5: 1183 (1993).
(
10.1093/intimm/5.9.1183
) / International Immunology (1993) - KONOPKA, J.B., DETECTION OF C-ABL TYROSINE KINASE-ACTIVITY INVITRO PERMITS DIRECT COMPARISON OF NORMAL AND ALTERED ABL GENE-PRODUCTS, MOLECULAR AND CELLULAR BIOLOGY 5: 3116 (1985). / MOLECULAR AND CELLULAR BIOLOGY (1985)
- MANO, H, A NOVEL PROTEIN-TYROSINE KINASE, TEC, IS PREFERENTIALLY EXPRESSED IN LIVER, ONCOGENE 5: 1781 (1990). / ONCOGENE (1990)
- MANO, H, EXPRESSION OF A NOVEL FORM OF TEC KINASE IN HEMATOPOIETIC-CELLS AND MAPPING OF THE GENE TO CHROMOSOME-5 NEAR KIT, ONCOGENE 8: 417 (1993). / ONCOGENE (1993)
- MCLAUGHLIN, J, INVITRO TRANSFORMATION OF IMMATURE HEMATOPOIETIC-CELLS BY THE P210 BCR ABL ONCOGENE PRODUCT OF THE PHILADELPHIA-CHROMOSOME, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 84: 6558 (1987). / PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (1987)
- MOSIER, D. E., JOURNAL OF MOLECULAR AND CELLULAR IMMUNOLOGY 2: 70 (1985). / JOURNAL OF MOLECULAR AND CELLULAR IMMUNOLOGY (1985)
-
NAHM, M.H., UN-BALANCED X-CHROMOSOME MOSAICISM IN B-CELLS OF MICE WITH X-LINKED IMMUNODEFICIENCY, JOURNAL OF EXPERIMENTAL MEDICINE 158: 920 (1983).
(
10.1084/jem.158.3.920
) / JOURNAL OF EXPERIMENTAL MEDICINE (1983) - RAWLINGS D.J. unpublished data.
10.1016/0092-8674(91)90032-T
- ROST, B, JURY RETURNS ON STRUCTURE PREDICTION, NATURE 360: 540 (1992). / NATURE (1992)
10.1126/science.2999980
-
SCHER, I, THE CBA N MOUSE STRAIN - AN EXPERIMENTAL-MODEL ILLUSTRATING THE INFLUENCE OF THE X-CHROMOSOME ON IMMUNITY, ADVANCES IN IMMUNOLOGY 33: 1 (1982).
(
10.1016/S0065-2776(08)60834-2
) / ADVANCES IN IMMUNOLOGY (1982) - SILICIANO, J.D., ITK, A T-CELL-SPECIFIC TYROSINE KINASE GENE INDUCIBLE BY INTERLEUKIN-2, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 89: 11194 (1992). / PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (1992)
-
TAKEMORI, T, A TEMPERATURE-SENSITIVE MUTANT OF ABELSON MURINE LEUKEMIA-VIRUS CONFERS INDUCIBILITY OF IGM EXPRESSION TO TRANSFORMED LYMPHOID-CELLS, EMBO JOURNAL 6: 951 (1987).
(
10.1002/j.1460-2075.1987.tb04844.x
) / EMBO JOURNAL (1987) -
TSUKADA, S, DEFICIENT EXPRESSION OF A B-CELL CYTOPLASMIC TYROSINE KINASE IN HUMAN X-LINKED AGAMMAGLOBULINEMIA, CELL 72: 279 (1993).
(
10.1016/0092-8674(93)90667-F
) / CELL (1993) -
VETRIE, D, THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES, NATURE 361: 226 (1993).
(
10.1038/361226a0
) / NATURE (1993) - Weiss R. RNA Tumor Viruses. Molecular Biology of Tumor Viruses 2 (1984).
- Whitlock, C. A., Proceedings of the National Academy of Sciences of the United States of America 79: 3608 (1982). / Proceedings of the National Academy of Sciences of the United States of America (1982)
- WICKER, L.S., X-LINKED IMMUNE-DEFICIENCY (XID) OF CBA/N MICE, CURRENT TOPICS IN MICROBIOLOGY AND IMMUNOLOGY 124: 87 (1986). / CURRENT TOPICS IN MICROBIOLOGY AND IMMUNOLOGY (1986)
Dates
Type | When |
---|---|
Created | 18 years, 11 months ago (Oct. 5, 2006, 7:05 p.m.) |
Deposited | 1 year, 7 months ago (Jan. 15, 2024, 6:26 a.m.) |
Indexed | 3 days, 1 hour ago (Sept. 3, 2025, 6:12 a.m.) |
Issued | 32 years, 1 month ago (July 16, 1993) |
Published | 32 years, 1 month ago (July 16, 1993) |
Published Print | 32 years, 1 month ago (July 16, 1993) |
@article{Rawlings_1993, title={Mutation of Unique Region of Bruton’s Tyrosine Kinase in Immunodeficient XID Mice}, volume={261}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.8332901}, DOI={10.1126/science.8332901}, number={5119}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Rawlings, David J. and Saffran, Douglas C. and Tsukada, Satoshi and Largaespada, David A. and Grimaldi, J. Christopher and Cohen, Lucie and Mohr, Randolph N. and Bazan, J. Fernando and Howard, Maureen and Copeland, Neal G. and Jenkins, Nancy A. and Witte, Owen N.}, year={1993}, month=jul, pages={358–361} }