USF1 in the pathology of selected diseases

Joanna Iwanicka, Iwona Żak


USF1 belongs to a family of transcription factors characterized by highly conserved helix-loop-helix and leucine zipper domains. The USF1 polypeptide is encoded by the USF1 gene located in the long arm of chromosome 1. The USF1 protein can form homodimers or heterodimers with the USF2 polypeptide. Being a subunit of the dimeric upstream transcription factor, USF1 plays multiple roles in the transcription regulation of many genes, which includes the E-box motif in the promoter region. The activation of gene transcription depends on the integrity of the b-HLH-LZ dimerized domains of USF with the region of DNA. The expression of the USF1 gene and the binding abilities of the protein transcription factor to the promoter region of a target gene is regulated by phosphorylation and methylation processes. The 

transcription factor USF1 regulates the expression of numerous genes involved, e.g. in the cell cycle, cellular proliferation, cellular ageing, stress and immune response, carcinogenesis, and lipid and carbohydrate metabolism. Moreover, the genetic variants of USF1 can be associated, e.g. with changed levels of serum lipids, glucose and specific markers of carcinogenesis. Among the studied polymorphisms of USF1 a group of genetic variants can be identified, which are associated with risk factors for cardiovascular events. USF1 is also one of the main factors for coronary artery disease, metabolic syndrome, diabetes type II, and familial combined hyperlipidemia.


USF1; polymorphism; coronary artery disease; diabetes mellitus type II; cancers

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