The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans |
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Authors: | Piotrowski Tatjana Ahn Dae-gwon Schilling Thomas F Nair Sreelaja Ruvinsky Ilya Geisler Robert Rauch Gerd-Jörg Haffter Pascal Zon Leonard I Zhou Yi Foott Helen Dawid Igor B Ho Robert K |
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Institution: | National Institutes of Health, NICHD, LMG, Bldg. 6B, 9000 Rockville Pike, Bethesda, MD 20892, USA. piotrowski@neuro.utah.edu |
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Abstract: | 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. |
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