1. The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.
- Author
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Ambrosio R, Fimiani G, Monfregola J, Sanzari E, De Felice N, Salerno MC, Pignata C, D'Urso M, and Ursini MV
- Subjects
- 5' Flanking Region genetics, DNA chemistry, DNA genetics, Exons, Female, Gene Expression, Genes genetics, Growth Disorders genetics, HeLa Cells, Humans, Introns, Jurkat Cells, Molecular Sequence Data, Phylogeny, Polymorphism, Genetic, Protein Isoforms genetics, STAT5 Transcription Factor, Sequence Analysis, DNA, Transcription, Genetic, Tumor Cells, Cultured, Tumor Suppressor Proteins, Alternative Splicing, DNA-Binding Proteins genetics, Milk Proteins, Promoter Regions, Genetic genetics, Trans-Activators genetics
- Abstract
STAT5A and STAT5B genes belong to the signal transducer and activators of transcription (STAT) family of transcription factors. They show a high degree of sequence homology at levels of mRNA, however, in spite of their supposed redundancy, each STAT5 has distinct biological functions mainly related to the immune system, hematopoiesis, growth and mammary development. We isolated and sequenced both STAT5A and STAT5B encoding human genes finding that they are segmented in 20 and 19 exons, respectively, of comparable size except for the extreme 5' exons and the 3' exons. Two CpG islands, 23.2% CpG for STAT5A and 30.2% for STAT5B, are present at the 5' of both STAT5 genes covering the 5' untranslated regions. More surprisingly, the two genes share two major regions of almost identical sequence which diverge between the different species indicating an intra-species specific mechanism of preservation. Furthermore, we identified two alternative 5' exons in STAT5B genes and thus two alternative promoters. The second putative promoter is not embedded in a CpG island and it shows a tissue specific pattern of expression. Finally, the STAT5B gene was assessed as a candidate gene in a human disorder related to growth failure.
- Published
- 2002
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