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The EYA-SO/SIX complex in development and disease

Pin-Xian Xu1

  • 1Department of Genetics and Genomic Sciences and Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA. pinxian.xu@mssm.edu

Pediatric Nephrology (Berlin, Germany)
|July 19, 2012
PubMed

Insights

Eyes absent (EYA) and Sine oculis (SO/SIX) proteins are vital for embryonic development, regulating cell growth and differentiation. Mutations in EYA and SO/SIX genes lead to severe developmental defects in various species, including humans.

Area of Science:

  • Developmental Biology
  • Molecular Biology
  • Genetics

Background:

  • Eyes absent (EYA) and Sine oculis (SO/SIX) proteins form transcriptional activation complexes.
  • These proteins are crucial for organogenesis, regulating cell proliferation, survival, and differentiation programs.
  • Mutations in EYA and SO/SIX genes result in significant developmental abnormalities across diverse organisms.

Purpose of the Study:

  • To review the critical roles of EYA and SO/SIX proteins in embryonic development.
  • To discuss the involvement of these proteins in various diseases.
  • To highlight their functions in mice and humans.

Main Methods:

  • Literature review of studies on EYA and SO/SIX proteins.
  • Analysis of genetic mutations and their developmental consequences.
  • Examination of protein function in organogenesis and disease.

Main Results:

  • EYA and SO/SIX proteins are essential for coordinating cell proliferation, survival, and differentiation.
  • EYA proteins possess intrinsic phosphatase activity vital for development.
  • Dysregulation of EYA/SO/SIX pathways contributes to developmental defects and diseases.

Conclusions:

  • EYA and SO/SIX proteins are indispensable for normal embryonic development.
  • Understanding their roles is crucial for addressing developmental disorders.
  • Further research into EYA/SO/SIX functions can inform therapeutic strategies for related diseases.

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