Genomic studies of the spleen protein tyrosine kinase locus reveal a complex promoter structure and several genetic variants
| Autor: | Patricia A. Goodman, Fatih M. Uckun, Carla M. Wood, Brian Juran |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Silent mutation
Untranslated region Cancer Research DNA Complementary Genetic Structures Molecular Sequence Data Syk Biology Polymorphism Single Nucleotide Exon Mice Rapid amplification of cDNA ends Complementary DNA Animals Humans Syk Kinase Cloning Molecular Promoter Regions Genetic Gene Genetics Enzyme Precursors Base Sequence Intron Intracellular Signaling Peptides and Proteins Chromosome Mapping hemic and immune systems Hematology Exons Protein-Tyrosine Kinases Molecular biology Oncology Haplotypes CpG Islands 5' Untranslated Regions Spleen |
| Zdroj: | Leukemialymphoma. 43(8) |
| ISSN: | 1042-8194 |
| Popis: | Here we show that the gene of the cytoplasmic tyrosine kinase SYK spans a region of 90 kb with 13 coding exons, an alternative exon 14 and at least two 5' untranslated regions exons 1a and 1b. 5' RACE (Rapid amplification of cDNA ends) of human Syk cDNAs demonstrated a complex promoter usage and splicing pattern. We identified three common single nucleotide polymorphisms in the exon 1a promoter region of the Syk gene as well as a variant Syk cDNA haplotype. This haplotype was characterized by a constellation of 5 silent mutations in the Syk cDNA: 1065(C-T), 1302(G-C), 1338(G-A), 1521(C-T) and 1545(T-C). A hypervariable CATATA (n ) repeat polymorphism was also localized to the intron between exons 11 and 12. These novel insights into the genomic organization, promoter structure and genetic variability of Syk will serve as a foundation for detailed molecular epidemiological investigation of its potential role in human cancer biology. |
| Databáze: | OpenAIRE |
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