The Eyes Absent proteins in development and in developmental disorders

Biochem Soc Trans. 2021 Jun 30;49(3):1397-1408. doi: 10.1042/BST20201302.

Abstract

The Eyes Absent (EYA) transactivator-phosphatase proteins are important contributors to cell-fate determination processes and to the development of multiple organs. The transcriptional regulatory activity as well as the protein tyrosine phosphatase activities of the EYA proteins can independently contribute to proliferation, differentiation, morphogenesis and tissue homeostasis in different contexts. Aberrant EYA levels or activity are associated with numerous syndromic and non-syndromic developmental disorders, as well as cancers. Commensurate with the multiplicity of biochemical activities carried out by the EYA proteins, they impact upon a range of cellular signaling pathways. Here, we provide a broad overview of the roles played by EYA proteins in development, and highlight the molecular signaling pathways known to be linked with EYA-associated organ development and developmental disorders.

Keywords: Eyes Absent; branchio-oto-renal syndrome; organ development; protein tyrosine phosphatase; retinal determination gene network.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Congenital Abnormalities / embryology
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / metabolism
  • Eye / embryology
  • Eye / growth & development
  • Eye / metabolism*
  • Gene Expression Regulation, Developmental*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Kidney / embryology
  • Kidney / growth & development
  • Kidney / metabolism*
  • Mutation
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases / metabolism
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism

Substances

  • Trans-Activators
  • Protein Tyrosine Phosphatases