Naiche L A, Harrelson Zachary, Kelly Robert G, Papaioannou Virginia E
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA.
Annu Rev Genet. 2005;39:219-39. doi: 10.1146/annurev.genet.39.073003.105925.
The myriad developmental roles served by the T-box family of transcription factor genes defy easy categorization. Present in all metazoans, the T-box genes are involved in early embryonic cell fate decisions, regulation of the development of extraembryonic structures, embryonic patterning, and many aspects of organogenesis. They are unusual in displaying dosage sensitivity in most instances. In humans, mutations in T-box genes are responsible for developmental dysmorphic syndromes, and several T-box genes have been implicated in neoplastic processes. T-box transcription factors function in many different signaling pathways, notably bone morphogenetic protein and fibroblast growth factor pathways. The few downstream target genes that have been identified indicate a wide range of downstream effectors.
T 盒转录因子基因家族所发挥的众多发育作用难以简单归类。T 盒基因存在于所有后生动物中,参与早期胚胎细胞命运的决定、胚外结构发育的调控、胚胎模式形成以及器官发生的多个方面。它们在大多数情况下表现出剂量敏感性,这一点很不寻常。在人类中,T 盒基因突变会导致发育性畸形综合征,并且一些 T 盒基因与肿瘤形成过程有关。T 盒转录因子在许多不同的信号通路中发挥作用,尤其是骨形态发生蛋白和成纤维细胞生长因子通路。已确定的少数下游靶基因表明存在广泛的下游效应器。