Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.

The chicken extracellular matrix glycoprotein ES/ 130 is necessary for epithelial--mesenchymal transformation in the developing heart and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homolog of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult.