The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter

Raffaele Ambrosio, Giorgia Fimiani, Jlenia Monfregola, Emma Sanzari, Nicola De Felice, Maria Carolina Salerno, Claudio Pignata, Michele D'Urso, Matilde Valeria Ursini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)311-318
Number of pages8
JournalGene
Volume285
Issue number1-2
DOIs
Publication statusPublished - Feb 20 2002

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Keywords

  • Genomic structure
  • Idiopathic short stature
  • Phylogenetic trees
  • Redundant genes
  • STAT5 genes

ASJC Scopus subject areas

  • Genetics

Cite this

Ambrosio, R., Fimiani, G., Monfregola, J., Sanzari, E., De Felice, N., Salerno, M. C., Pignata, C., D'Urso, M., & Ursini, M. V. (2002). The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter. Gene, 285(1-2), 311-318. https://doi.org/10.1016/S0378-1119(02)00421-3