Homeobox protein goosecoid

Homeobox protein goosecoid (GSC) is a homeobox protein that is encoded in humans by the GSC gene. Like other homeobox proteins, goosecoid functions as a transcription factor involved in morphogenesis. In Xenopus, GSC is thought to play a crucial role in the phenomenon of the Spemann-Mangold organizer. Through lineage tracing and timelapse microscopy, the effects of GSC on neighboring cell fates could be observed. In an experiment that injected cells with GSC and observed the effects of uninjected cells, GSC recruited neighboring uninjected cells in the dorsal blastopore lip of the Xenopus gastrula to form a twinned dorsal axis, suggesting that the goosecoid protein plays a role in the regulation and migration of cells during gastrulation.

It is not clear how GSC conducts this organizational function. Errors in the formation of goosecoid protein in mice and humans have a range of consequences on the developing embryo typically in regions of neural crest cell derivatives, the hip and shoulder joints, and craniofacial development. Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) was thought to be a rare autosomal recessive developmental disorder, but through whole-exome sequencing, it was discovered that SAMS is the result of a mutation of the GSC gene. The data collected from the whole-exome sequencing, as well as the phenotypical presentation of SAMS, indicates that in mammals, the goosecoid protein is involved with the regulation and migration of neural crest cell fates and other mesodermal patterning, notably joints like the shoulders and hips.