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See Latest ArticlesLong-range regulation at the SOX9 locus in development and disease
Journal of Medical Genetics, 06/08/09
Gordon CT et al. - Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD. The translocation breakpoints upstream of SOX9 can now be clustered into three groups, with a trend towards less severe skeletal phenotypes as the distance of each cluster from SOX9 increases.
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