The EYA-SO/SIX complex in development and disease

• Published in: Pediatric nephrology (Berlin, West) Vol. 28; no. 6; pp. 843 - 854
• Main Author: Xu, Pin-Xian
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.06.2013; Springer; Springer Nature B.V
• Subjects: Amino acids; Animals; Cell growth; Disease; Embryonic Development; Gene mutations; Genes; Homeodomain Proteins - genetics; Homeodomain Proteins - physiology; Humans; Insects; Intracellular Signaling Peptides and Proteins - genetics; Intracellular Signaling Peptides and Proteins - physiology; Kidney - embryology; Kidney Diseases - genetics; Medicine; Medicine & Public Health; Mice; Nephrology; Neurogenesis; Nuclear Proteins - genetics; Nuclear Proteins - physiology; Pediatrics; Phosphatase; Physiological aspects; Protein Tyrosine Phosphatases - genetics; Protein Tyrosine Phosphatases - physiology; Proteins; Review; RNA polymerase; Transcription factors; Transcription, Genetic; Urology; United States; Cell proliferation; Cell survival; Specification of metanephric mesenchyme; Sensory placode; Induction of ureteric bud; Ureter; Transcription factor; Phosphatase
• ISSN: 0931-041X; 1432-198X; 1432-198X
• DOI: 10.1007/s00467-012-2246-1

Eyes absent (EYA) and Sine oculis (SO/SIX) proteins function as transcriptional activation complexes and play essential roles in organogenesis during embryonic development in regulating cell proliferation and survival and coordination of particular differentiation programs. Mutations of the Eya and So/Six genes cause profound developmental defects in organisms as diverse as flies, frogs, fish, mice, and humans. EYA proteins also possess an intrinsic phosphatase activity, which is essential for normal development. Here, we review crucial roles of EYA and SO/SIX in development and disease in mice and humans.