Kraus Petra, Lufkin Thomas
Stem Cell and Developmental Biology, Genome Institute of Singapore, 60 Biopolis Street, 138672 Singapore.
Am J Med Genet A. 2006 Jul 1;140(13):1366-74. doi: 10.1002/ajmg.a.31252.
The Dlx homeobox gene family is of ancient origin and crucial for embryonic development in invertebrates and vertebrates. The Dlx proteins are thought to function as DNA-binding transcriptional regulators, likely controlling large numbers of downstream effector genes. In mammals gene expression analysis of the six members of the Dlx gene family has been demonstrated in the nervous system, neural crest derivatives, branchial arches, and developing appendages. Through genetic approaches the Dlx genes have been implicated in patterning and development of the brain, craniofacial structures, and the axial and appendicular skeleton. Substantial functional redundancy within the Dlx gene family has prevented the analysis of single gene mutations from demonstrating the full developmental control exerted by the Dlx proteins. Here, we will discuss data from recent combined loss and gain-of-function genetic mutations, which have given greater insight into the role of Dlx homeobox genes in craniofacial, limb, and bone development.
Dlx同源框基因家族起源古老，对无脊椎动物和脊椎动物的胚胎发育至关重要。Dlx蛋白被认为作为DNA结合转录调节因子发挥作用，可能控制大量下游效应基因。在哺乳动物中，已证实Dlx基因家族的六个成员在神经系统、神经嵴衍生物、鳃弓和发育中的附属器中进行基因表达分析。通过遗传学方法，Dlx基因已被证明与大脑、颅面结构以及轴向和附属骨骼的模式形成和发育有关。Dlx基因家族内大量的功能冗余使得对单个基因突变的分析无法证明Dlx蛋白所发挥的全部发育控制作用。在此，我们将讨论来自近期功能丧失和功能获得联合基因突变的数据，这些数据使我们对Dlx同源框基因在颅面、肢体和骨骼发育中的作用有了更深入的了解。
