The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

ABSTRACT: The basic helix-loop-helix/Per-ARNT-SIM (bHLH-PAS) proteins are a family of transcription factors regulating expression of a wide range of genes involved in different functions, ranging from differentiation and development control by oxygen and toxins sensing to circadian clock setting. In addition to the well-preserved DNA-binding bHLH and PAS domains, bHLH-PAS proteins contain long intrinsically disordered C-terminal regions, responsible for regulation of their activity. Our aim was to analyze the potential connection between disordered regions of the bHLH-PAS transcription factors, post-transcriptional modifications and liquid-liquid phase separation, in the context of disease-associated missense mutations. Highly flexible disordered regions, enriched in short motives which are more ord

SUBMITTER: Kolonko-Adamska M 

PROVIDER: S-EPMC8001110 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature