Abstract
Members of the T-box gene family have diverse roles during embryogenesis and many play critical roles in the developing limb. This is exemplified by the fact that, in humans, mutations in T-box genes are associated with several congenital syndromes that include limb defects as part of their characteristic spectrum of abnormalities. T-box genes encode for evolutionary conserved transcription factors that include both transcriptional activators and repressors. The hallmark of T-box gene members is the presence of the eponymous DNA-binding T-box domain. There are 17 mammalian T-box genes, which based on the sequence homology of the T-box domain, are grouped into five subfamilies, namely, . T, . Tbx1, . Tbx2, . Tbx6, and . Tbr1. At least nine T-box genes are expressed during limb development with distinct and dynamic expression patterns. All four members of Tbx2 subfamily (Tbx2, . Tbx3, . Tbx4, . Tbx5) and three members of . Tbx1 (Tbx1, . Tbx15, . Tbx18), . Brachyury (T) and . Eomes (Tbr2) are expressed in the developing limb.
Original language | English |
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Pages (from-to) | 355–381 |
Journal | Current Topics in Developmental Biology |
Volume | 122 |
Early online date | 5 Oct 2016 |
DOIs | |
Publication status | Published - 1 Jan 2017 |
Keywords
- Apical ectodermal ridge (AER)
- Congenital limb abnormalities
- FGF signaling
- Hox genes
- Limb
- Limb bud initiation
- Limb patterning
- Shh signaling
- T-box genes
- Zone of polarizing activity (ZPA)