The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia
- St. Jude Children`s Research Hospital, Memphis, TN (United States)
- Baylor College of Medicine, Houston, TX (United States)
It has recently been demonstrated that mutations in the gene for Bruton`s tyrosine kinase (BTK) are responsible for X-linked agammaglobulinemia. Southern blot analysis and sequencing of cDNA were used to document deletions, insertions, and single base pair substitutions. To facilitate analysis of BTK regulation and to permit the development of assays that could be used to screen genomic DNA for mutations in BTK, the authors determined the genomic organization of this gene. Subcloning of a cosmid and a yeast artificial chromosome showed that BTK is divided into 19 exons spanning 37 kilobases of genomic DNA. Analysis of the region 5{prime} to the first untranslated exon revealed no consensus TATAA or CAAT boxes; however, three retinoic acid binding sites were identified in this region. Comparison of the structure of BTK with that of other nonreceptor tyrosine kinases, including SRC, FES, and CSK, demonstrated a lack of conservation of exon borders. Information obtained in this study will contribute to understanding of the evolution of nonreceptor tyrosine kinases. It will also be useful in diagnostic studies, including carrier detection, and in studies directed towards gene therapy or gene replacement. 29 refs., 2 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 69611
- Journal Information:
- Immunogenetics, Journal Name: Immunogenetics Journal Issue: 5 Vol. 40; ISSN IMNGBK; ISSN 0093-7711
- Country of Publication:
- United States
- Language:
- English
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