Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene

Genomics. 2000 Aug 1;67(3):317-32. doi: 10.1006/geno.2000.6249.


T-box transcription factors contain a novel type of DNA-binding domain, the T-box domain, and are encoded by an ancient gene family. Four T-box genes, omb, Trg, org-1, and H15, have been identified in Drosophila, whereas in mammals the T-box gene family has expanded, and 12 human T-box genes have been isolated. We have identified a new human T-box gene, TBX20, and its mouse homologue Tbx20, which are more closely related to the Drosophila H15 gene than to any known vertebrate gene. H15 expression in leg imaginal discs correlates with commitment to a ventral fate, implicating this gene in early patterning events. We find that TBX20 is expressed in the fetal heart, eye, and limb, and during embryogenesis in the mouse, Tbx20 is expressed in the developing heart, eye, ventral neural tube, and limbs, indicating a possible role in regulating development of these tissues. The TBX20 gene maps to chromosome 7p14-p15. An association between TBX20 and loci for retinitis pigmentosa, RP9, and blepharophimosis syndrome, BPES, have been excluded.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Body Patterning
  • Chromosomes, Human, Pair 7
  • DNA Primers / chemistry
  • Drosophila / genetics*
  • Embryo, Mammalian / metabolism
  • Embryo, Nonmammalian
  • Extremities / embryology
  • Extremities / physiology
  • Eye / embryology
  • Eye / metabolism
  • Female
  • Gene Expression
  • Heart / embryology
  • Humans
  • In Situ Hybridization / methods
  • Mice
  • Molecular Sequence Data
  • Myocardium / metabolism
  • Pregnancy
  • Retinitis Pigmentosa / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • T-Box Domain Proteins / biosynthesis
  • T-Box Domain Proteins / genetics*


  • DNA Primers
  • T-Box Domain Proteins

Associated data

  • GENBANK/AJ237589
  • GENBANK/AJ277486