| Title: |
The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans |
| 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. |
| Publisher Information: |
Company of Biologists |
| Publication Year: |
2003 |
| Collection: |
HighWire Press (Stanford University) |
| Subject Terms: |
RESEARCH ARTICLE: DEVELOPMENT AND DISEASE |
| Description: |
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. |
| Document Type: |
text |
| File Description: |
text/html |
| Language: |
English |
| Relation: |
http://dev.biologists.org/cgi/content/short/130/20/5043; http://dx.doi.org/10.1242/dev.00704 |
| DOI: |
10.1242/dev.00704 |
| Availability: |
http://dev.biologists.org/cgi/content/short/130/20/5043; https://doi.org/10.1242/dev.00704 |
| Rights: |
Copyright (C) 2003, Company of Biologists |
| Accession Number: |
edsbas.FB4DABE1 |
| Database: |
BASE |