Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice
| Autor: | Randolph N. Mohr, David A. Largaespada, Satoshi Tsukada, Lucie Cohen, Douglas C. Saffran, Maureen C. Howard, J. Fernando Bazan, Owen N. Witte, Nancy A. Jenkins, David J. Rawlings, J. Christopher Grimaldi, Neal G. Copeland |
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| Rok vydání: | 1993 |
| Předmět: |
Male
X Chromosome Genetic Linkage Molecular Sequence Data X-linked agammaglobulinemia chemical and pharmacologic phenomena medicine.disease_cause Cell Line Mice immune system diseases hemic and lymphatic diseases medicine Agammaglobulinaemia Tyrosine Kinase Bruton's tyrosine kinase Animals Amino Acid Sequence Kinase activity B cell Immunodeficiency Crosses Genetic Genetics Mutation B-Lymphocytes Multidisciplinary biology Base Sequence Immunologic Deficiency Syndromes Chromosome Mapping Exons Protein-Tyrosine Kinases medicine.disease Molecular biology Mice Mutant Strains Mice Inbred C57BL medicine.anatomical_structure Cell culture Mice Inbred DBA biology.protein Mice Inbred CBA Female Tyrosine kinase |
| Zdroj: | Science (New York, N.Y.). 261(5119) |
| ISSN: | 0036-8075 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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