GENES REGULATED BY TWIST2

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The TWIST2 gene has been shown to be important in the development of skin, muscle and bone in several studies. A genome scan of two large Puerto Rican families and one family from Oman was used to map a very rare recessive disorder, the Setleis Syndrome, to microsatellite marker D2S1397 (2q37.3). Subsequently, nonsense mutations (Q119X and Q65X) were found in the TWIST2 gene in both types of patients. Further studies of the role of TWIST2 in human development may provide new insights into the targets of this transcription factor and their role in craniofacial development. The long term goal of this project: To study the mechanisms of Twist2 gene regulation in genes shown to be targets of its action in order to shed light on the craniofacial developmental program and the pathogenesis of the Setleis Syndrome.