T-genes and limb bud development

Mary King, Jelena S. Arnold, Alan Shanske, Bernice E. Morrow

Research output: Contribution to journalReview articlepeer-review

52 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1407-1413
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number13
StatePublished - Jul 1 2006


  • Limb bud development
  • SHFM
  • T-box genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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