Ohazama Atsushi, Sharpe Paul T
Department of Craniofacial Development, Dental Institute, King's College London, Guy's Hospital, London Bridge, London, United Kingdom.
Dev Dyn. 2007 Oct;236(10):2884-8. doi: 10.1002/dvdy.21311.
Williams syndrome is a rare congenital disorder involving the cardiovascular system, mental retardation, distinctive facial features, and tooth anomalies. It is caused by the heterozygous deletion of approximately 1.6 Mb encompassing 28 genes on human chromosome 7q11.23. It has been suggested that the genes responsible for craniofacial anomalies are located in the telomeric end region, which harbors three members of the TFII-I gene family (Tassabehji et al. [2005] Science 310:1184). To recognize potential candidate genes for the tooth anomalies in Williams syndrome, we carried out comparative in situ hybridization analysis of members of TFII-I gene family during murine odontogenesis. Gtf2i showed widespread expression in the developing head but was higher in the developing teeth than surrounding tissues throughout tooth development. At the bud stage, Gtf2ird1 and Gtf2ird2 were expressed in the epithelial buds. At the early bell stage, expression of Gtf2ird1 and Gtf2ird2 was observed in preameloblasts and preodontoblasts.
威廉姆斯综合征是一种罕见的先天性疾病，涉及心血管系统、智力发育迟缓、独特的面部特征和牙齿异常。它是由人类7号染色体q11.23上约1.6兆碱基的杂合缺失导致的，该缺失区域包含28个基因。有研究表明，导致颅面异常的基因位于端粒末端区域，该区域包含TFII-I基因家族的三个成员（Tassabehji等人，[2005]《科学》310:1184）。为了识别威廉姆斯综合征中牙齿异常的潜在候选基因，我们在小鼠牙齿发育过程中对TFII-I基因家族成员进行了比较原位杂交分析。Gtf2i在发育中的头部广泛表达，但在整个牙齿发育过程中，其在发育中的牙齿中的表达高于周围组织。在芽期，Gtf2ird1和Gtf2ird2在上皮芽中表达。在钟状早期，在成釉细胞前体和成牙本质细胞前体中观察到Gtf2ird1和Gtf2ird2的表达。
