Chen Lab study featured on cover of Journal of Investigative Dermatology

A study conducted by Dr. Jiang Chen's laboratory was recently published by the Journal of Investigative Dermatology, the top research journal of dermatology and cutaneous biology. The story is featured on the cover of the current (February, 2016) issue of the Journal

The research was focused on GORAB, a Golgi-related protein. GORAB is ubiquitously expressed in mammalian tissues, including the skin, but its in vivo functions are largely unknown. Moreover, recessive mutations in the GORAB gene cause geroderma osteodysplasticum (GO), OMIM 231070. GO is a rare premature aging disorder characterized by development delay, and premature aging of the skin and bone. Unfortunately, the pathogenic mechanism of GO is unknown.

Dr. Chen’s laboratory engineered a mutant Gorab mouse model and successfully recapitulated phenotypes of GO. Focusing on the skin, the research team discovered overt hair follicle morphogenesis defects in the mutant mouse models. Using elegant mix-matched skin reconstitution assays, the team found that disrupting the Gorab gene during skin embryogenesis significantly impaired the formation of the dermal condensates, clusters of specialized dermal fibroblasts that are essential for hair follicle formation. Mechanistically, the team demonstrated that dermal condensate abnormalities were caused by impaired primary cilia formation and attenuated hedgehog signaling. 

Results obtained from this study provided important insight into the biological functions of GORAB during embryonic morphogenesis. This information may be useful in our understanding of the pathogenesis GO, and skin and bone aging.