title: The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.
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.
authors.affiliation: International Institute of Genetics and Biophysics (IIGB-CNR), Via G. Marconi, 10, 80125, Naples, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Ambrosio
authors.forename: Giorgia
authors.initials: G
authors.lastname: Fimiani
authors.forename: Jlenia
authors.initials: J
authors.lastname: Monfregola
authors.forename: Emma
authors.initials: E
authors.lastname: Sanzari
authors.forename: Nicola
authors.initials: N
authors.lastname: De Felice
authors.forename: Maria Carolina
authors.initials: MC
authors.lastname: Salerno
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.forename: Michele
authors.initials: M
authors.lastname: D'Urso
authors.forename: Matilde Valeria
authors.initials: MV
authors.lastname: Ursini
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D017398:Alternative Splicing; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006367:HeLa Cells; D006801:Humans; D007438:Introns; D019169:Jurkat Cells; D008894:Milk Proteins; D008969:Molecular Sequence Data; D010802:Phylogeny; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D050799:STAT5 Transcription Factor; D017422:Sequence Analysis, DNA; D015534:Trans-Activators / Q000235:genetics*; D014158:Transcription, Genetic; D014407:Tumor Cells, Cultured; D025521:Tumor Suppressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D008894:Milk Proteins; D020033:Protein Isoforms; D050799:STAT5 Transcription Factor; C494092:STAT5A protein, human; C494095:STAT5B protein, human; D015534:Trans-Activators; D025521:Tumor Suppressor Proteins; D004247:DNA