ZFIN ID: ZDB-PUB-030908-8
The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans
Piotrowski, T., Ahn, D.-G., Schilling, T.F., Nair, S., Ruvinsky, I., Geisler, R., Rauch, G.-J., Haffter, P., Zon, L.I., Zhou, Y., Foott, H., Dawid, I.B., and Ho, R.K.
Date: 2003
Source: Development (Cambridge, England)   130(20): 5043-5052 (Journal)
Registered Authors: Ahn, Dae-gwon, Dawid, Igor B., Foott, Helen, Geisler, Robert, Haffter, Pascal, Ho, Robert K., Nair, Sreelaja, Piotrowski, Tatjana, Rauch, Gerd-Jörg, Schilling, Tom, Zhou, Yi, Zon, Leonard I.
Keywords: none
MeSH Terms:
  • Amino Acid Sequence
  • Animals
  • Branchial Region/metabolism
  • DiGeorge Syndrome/genetics*
  • Ear/embryology
  • Endoderm/metabolism
  • Humans
  • Mesoderm/metabolism
  • Molecular Sequence Data
  • Mutation
  • Sequence Deletion
  • T-Box Domain Proteins/genetics*
  • T-Box Domain Proteins/metabolism
  • Zebrafish/metabolism*
PubMed: 12952905 Full text @ Development
The van gogh (vgo) mutant in zebrafish is characterized by defects in the ear, pharyngeal arches and associated structures such as the thymus. We show that vgo is caused by a mutation in tbx1, a member of the large family of T-box genes. tbx1 has been recently suggested to be a major contributor to the cardiovascular defects in DiGeorge deletion syndrome (DGS) in humans, a syndrome in which several neural crest derivatives are affected in the pharyngeal arches. Using cell transplantation studies, we demonstrate that vgo/tbx1 acts cell autonomously in the pharyngeal mesendoderm and influences the development of neural crest-derived cartilages secondarily. Furthermore, we provide evidence for regulatory interactions between vgo/tbx1 and edn1 and hand2, genes that are implicated in the control of pharyngeal arch development and in the etiology of DGS.