Genomic Mutations of the STAT5 Transcription Factor Are Associated with Human Cancer and Immune Diseases.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Original Publication: Basel, Switzerland : MDPI, [2000-

Immune System Diseases*/genetics ; Neoplasms*/genetics; Animals ; Genomics ; Humans ; Mammals/metabolism ; Mutation ; STAT5 Transcription Factor/metabolism

Signal transducer and activation of transcription 5 (STAT5) is a key transcription factor that regulates various biological processes in mammalian development. Aberrant regulation of STAT5 has also been causally linked to many diseases, including cancers and immune-related diseases. Although persistent activation of STAT5 due to dysregulation of the signaling cascade has been reported to be associated with the progression of solid tumors and leukemia, various genomic mutations of STAT5 have also been found to cause a wide range of diseases. The present review comprehensively summarizes results of recent studies evaluating the intrinsic function of STAT5 and the link between STAT5 mutations and human diseases. This review also describes the types of disease models useful for investigating the mechanism underlying STAT5-driven disease progression. These findings provide basic knowledge for understanding the regulatory mechanisms of STAT5 and the progression of various diseases resulting from aberrant regulation of STAT5. Moreover, this review may provide insights needed to create optimal disease models that reflect human disease associated STAT5 mutations and to design gene therapies to correct STAT5 mutations.

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2022R1F1A1073325 National Research Foundation of Korea (NRF) grant funded by the Korean government (MSIT)

Keywords: STAT5; genomic mutations; human diseases; transcriptional regulation

0 (STAT5 Transcription Factor)

Date Created: 20221014 Date Completed: 20221017 Latest Revision: 20221019

20250114

PMC9569778

10.3390/ijms231911297

36232600