The novel transcription factor Zfhx4 is critical to craniofacial development

2016 Fiscal Year Final Research Report

• Project/Area Number: 15H06386
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Surgical dentistry
• Research Institution: Osaka University
• Principal Investigator: NAKAMURA ERIKO 大阪大学, 歯学部附属病院, 特任助教(常勤) (00755069)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Keywords: 転写因子 / 顎顔面骨格形成 / 口蓋裂 / 内軟骨性骨形成 / 口蓋

Outline of Final Research Achievements

Craniofacial development is regulated by several growth factors and cytokines, which regulate their down-stream transcription factors. Malfunction of these factors cause abnormal craniofacial disorders. A novel transcription factor Zfhx4 is putatively proposed to be responsible for the 8q21.11 Microdeletion Syndrome, characterized by a round face with full cheeks, ptosis, an underdeveloped alae, a short philtrum, micrognathia, low-set ears. To examine the role of Zfhx4 in craniofacial development, we first generated the Zfhx4-/- mice. Zfhx4-/- mice died of respiratory failure within a day after birth. Zfhx4-/- mice exhibited domed and short skull, micrognathia, malformation of coronoid process and cleft palate. Histological analyses indicated that tongue and tooth germ were normally formed in the E16.5 Zfhx4-/- mice. In situ hybridization analysis confirmed that Zfhc4 was expressed in Palatal shelf in vivo. Collectively, Zfhx4 plays a critical role in craniofacial development.

Free Research Field

口腔生化学