The fundamental role of Tbx1 in orofacial development

2015 Fiscal Year Final Research Report

• Project/Area Number: 25670774
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Morphological basic dentistry
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: FUNATO NORIKO 東京医科歯科大学, 医歯学研究支援センター, 准教授 (10376767)
• Research Collaborator: YANAGISAWA Hiromi UT Southwestern Medical Center, 筑波大学 ; RICHARDSON James UT Southwestern Medical Center ; SRIVASTAVA Deepak University of California ; NAKAMURA Masataka 東京医科歯科大学
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: T-box型転写因子 / 口蓋裂 / 歯 / 骨

Outline of Final Research Achievements

T-box transcription factor, Tbx1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge syndrome/Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies, and cleft palates. Genetic disruption of Tbx1 leads to abnormal epithelial adhesion between the palate and mandible in mouse. Tbx1 is also essential for development of tooth and craniofacial bones. Our current studies reveal that Tbx1 is required for mesoderm- and neural crest-derived osteoblast differentiation and normal craniofacial development.

Free Research Field

医歯薬学