King Mary, Arnold Jelena S, Shanske Alan, Morrow Bernice E
Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.
Am J Med Genet A. 2006 Jul 1;140(13):1407-13. doi: 10.1002/ajmg.a.31250.
The T-box family of transcriptional factors is ancient and highly conserved among most species of animals. Haploinsufficiency of multiple T-box proteins results in severe human congenital malformation syndromes, involving craniofacial, cardiovascular, and skeletal structures. These genes have major roles in embryogenesis, including the development of the limbs. Formation of the limbs begins with a limb bud and its morphogenesis requires complex epithelial-mesenchymal interactions. Recent studies have shown that T, Tbx2, Tbx3, Tbx4, Tbx5, Tbx15, and Tbx18 are all expressed in the limb buds, and many have developmental functions. The study of these genes is clinically relevant as mutations in several of them cause human congenital malformation syndromes. Furthermore, understanding the function and biology of these genes is important in understanding normal embryogenesis.
转录因子的T-box家族古老且在大多数动物物种中高度保守。多种T-box蛋白的单倍剂量不足会导致严重的人类先天性畸形综合征，涉及颅面、心血管和骨骼结构。这些基因在胚胎发生中起主要作用，包括四肢的发育。四肢的形成始于肢芽，其形态发生需要复杂的上皮-间充质相互作用。最近的研究表明，T、Tbx2、Tbx3、Tbx4、Tbx5、Tbx15和Tbx18都在肢芽中表达，并且许多都具有发育功能。对这些基因的研究具有临床相关性，因为其中一些基因的突变会导致人类先天性畸形综合征。此外，了解这些基因的功能和生物学对于理解正常胚胎发生很重要。
