Regulation of craniofacial development by the Dix genes.

其中最常见和衰弱的人类出生缺陷是那些影响颅面组织 在过去的十年中，已经鉴定了许多在细胞中表达的候选调控基因。 颅面原基中的区域限制模式其中包括同源框转录因子 在哺乳动物中有三个A型Dlx基因（2、3、5）和三个B型Dlx基因 基因（1，6，7）这些基因在鳃弓原基中以嵌套模式表达， 嗅觉和听觉器官我们已经使Dlx1、Dlx2、Dlx1&2和Dlx5的功能丧失突变， 发现这些基因对颌骨的正常骨骼形态发生是必不可少的 和牙齿，以及鼻和耳囊的Dlx表达模式的比较， 在Dlx突变体中看到的形态缺陷表明存在Dlx组合密码， 鳃弓和嗅觉及耳器的局部形态发生 Dlx功能的组合模型，我们正在研究Dlx中的颅面分子和组织模式 此外，我们还将研究Dlx复合突变体的细胞和分子机制。 基因调控唇面发育

Among the most common and debilitating human birth defects are those that affect craniofacial tissues The last decade has witnessed the identification of numerous candidate regulatory genes that are expressed in regionally restricted patterns in the craniofacial primordia Among these are homeobox transcription factors that include the Dlx gene family In mammals there are three Type A Dlx genes (2,3,5) and three Type B Dlx genes (1,6,7) These genes are expressed in nested patterns in the primordia of the branchial arches as well as the olfactory and otic appatati We have made loss-of-function mutations of Dlxl, Dlx2, Dlxl&2 and Dlx5 in the mouse and found that these genes are essential for normal skeletal morphogenesis of the jaw apparatus and teeth, as well as the nasal and otic capsules Comparison of the Dlx-expression patterns with the morphological defects seen in the Dlx mutants suggests that there is a Dlx combinatorial code that specifies regional morphogenesis of the branchial arches and olfactory and otic apparati To evaluate our combinatorial model of Dlx function, we are studying craniofacial molecular and tissue patterning in Dlx compound mutants In addition, we will study the cellular and molecular mechanisms through which the Dlx genes regulate claniofacial development