Functional Significance of SRJ Domain Mutations in CITED2

  title={Functional Significance of SRJ Domain Mutations in CITED2},
  author={Chiann-Mun Chen and Jamie R Bentham and Catherine Cosgrove and Jos{\'e} Bragança and Ana Cuenda and Simon D. Bamforth and J{\"u}rgen E. Schneider and H. V. Watkins and Bernard D Keavney and Benjamin D Davies and Shoumo Bhattacharya},
  booktitle={PloS one},
CITED2 is a transcriptional co-activator with 3 conserved domains shared with other CITED family members and a unique Serine-Glycine Rich Junction (SRJ) that is highly conserved in placental mammals. Loss of Cited2 in mice results in cardiac and aortic arch malformations, adrenal agenesis, neural tube and placental defects, and partially penetrant defects in left-right patterning. By screening 1126 sporadic congenital heart disease (CHD) cases and 1227 controls, we identified 19 variants… CONTINUE READING