Department of Genetics and Genomic Sciences and Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.
Pediatr Nephrol. 2013 Jun;28(6):843-54. doi: 10.1007/s00467-012-2246-1. Epub 2012 Jul 19.
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.
EYA 和 Sine oculis (SO/SIX) 蛋白作为转录激活复合物发挥作用，在胚胎发育过程中的器官发生中对于调节细胞增殖和存活以及特定分化程序的协调至关重要。EYA 和 So/Six 基因的突变会导致从苍蝇、青蛙、鱼类、老鼠到人类等各种生物体中出现严重的发育缺陷。EYA 蛋白还具有内在的磷酸酶活性，这对于正常发育是必不可少的。在这里，我们综述了 EYA 和 SO/SIX 在小鼠和人类发育及疾病中的关键作用。
