GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com


Jump to: navigation, search

Motoyama, J, Liu, J, Mo, R, Ding, Q, Post, M and Hui, CC (1998) Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat. Genet. 20:54-7


Foregut malformations (oesophageal atresia, tracheo-oesophageal fistula, lung anomalies and congenital stenosis of the oesophagus and trachea) are relatively common anomalies occurring in 1 in 2,000-5,000 live births, although their aetiology is poorly understood. The secreted glycoprotein Sonic hedgehog (Shh) has been suggested to act as an endodermal signal that controls hindgut patterning and lung growth. In mice, three zinc-finger transcription factors, Gli1, Gli2 and Gli3, have been implicated in the transduction of Shh signal. We report here that mutant mice lacking Gli2 function exhibit foregut defects, including stenosis of the oesophagus and trachea, as well as hypoplasia and lobulation defects of the lung. A reduction of 50% in the gene dosage of Gli3 in a Gli2-/- background resulted in oesophageal atresia with tracheo-oesophageal fistula and a severe lung phenotype. Mutant mice lacking both Gli2 and Gli3 function did not form oesophagus, trachea and lung. These results indicate that Gli2 and Gli3 possess specific and overlapping functions in Shh signalling during foregut development, and suggest that mutations in GLI genes may be involved in human foregut malformations.


PubMed Online version:10.1038/1711


Animals; DNA-Binding Proteins/genetics; DNA-Binding Proteins/metabolism; DNA-Binding Proteins/physiology; Epithelial Cells/metabolism; Esophagus/abnormalities; Esophagus/embryology; Esophagus/metabolism; Gene Expression Regulation, Developmental; Hedgehog Proteins; Immunohistochemistry; In Situ Hybridization; Kruppel-Like Transcription Factors; Lung/abnormalities; Lung/embryology; Lung/metabolism; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mesoderm/metabolism; Mice; Mice, Knockout; Nerve Tissue Proteins; Oncogene Proteins/genetics; Oncogene Proteins/metabolism; Proteins/genetics; Proteins/metabolism; Receptors, Cell Surface; Repressor Proteins; Trachea/abnormalities; Trachea/embryology; Trachea/metabolism; Trans-Activators; Transcription Factors/genetics; Transcription Factors/metabolism; Transcription Factors/physiology; Xenopus Proteins



Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status

See also


See Help:References for how to manage references in GONUTS.