Wilson Val, Conlon Frank L
Department of Genetics, 220 Fordham Hall, University of North Carolina, Chapel Hill, NC 27599-3280, USA.
Genome Biol. 2002;3(6):REVIEWS3008. doi: 10.1186/gb-2002-3-6-reviews3008. Epub 2002 May 31.
Transcription factors of the T-box family are required both for early cell-fate decisions, such as those necessary for formation of the basic vertebrate body plan, and for differentiation and organogenesis. When mutated, T-box genes give dramatic phenotypes in mouse and zebrafish, and they have been implicated both in fundamentals of limb patterning and in a number of human congenital malformations such as Holt-Oram, ulnar-mammary and DiGeorge syndromes, as well as being amplified in a subset of cancers. Genes encoding members of the T-box family have recently been shown to comprise approximately 0.1% of genomes as diverse as those of nematodes and humans and have been identified in a wide variety of animals from ctenophores (comb jellies) to mammals; they are, however, completely absent from genomes from other organisms (such as the model plant Arabidopsis thaliana).
T-box家族的转录因子对于早期细胞命运决定（例如形成基本脊椎动物身体结构所需的那些决定）以及分化和器官发生都是必需的。T-box基因发生突变时，会在小鼠和斑马鱼中产生显著的表型，它们与肢体模式形成的基础以及多种人类先天性畸形有关，如 Holt-Oram综合征、尺骨-乳腺综合征和DiGeorge综合征，并且在一部分癌症中存在扩增现象。最近研究表明，编码T-box家族成员的基因在从线虫到人类等多种不同基因组中约占0.1%，并且在从栉水母到哺乳动物等各种各样的动物中都已被鉴定出来；然而，在其他生物（如模式植物拟南芥）的基因组中则完全不存在。
