title: The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.
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.
authors.affiliation: National Institutes of Health, NICHD, LMG, Bldg. 6B, 9000 Rockville Pike, Bethesda, MD 20892, USA. piotrowski@neuro.utah.edu
authors.forename: Tatjana
authors.initials: T
authors.lastname: Piotrowski
authors.forename: Dae-gwon
authors.initials: DG
authors.lastname: Ahn
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Schilling
authors.forename: Sreelaja
authors.initials: S
authors.lastname: Nair
authors.forename: Ilya
authors.initials: I
authors.lastname: Ruvinsky
authors.forename: Robert
authors.initials: R
authors.lastname: Geisler
authors.forename: Gerd-Jörg
authors.initials: GJ
authors.lastname: Rauch
authors.forename: Pascal
authors.initials: P
authors.lastname: Haffter
authors.forename: Leonard I
authors.initials: LI
authors.lastname: Zon
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhou
authors.forename: Helen
authors.initials: H
authors.lastname: Foott
authors.forename: Igor B
authors.initials: IB
authors.lastname: Dawid
authors.forename: Robert K
authors.initials: RK
authors.lastname: Ho
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001934:Branchial Region / Q000378:metabolism; D004062:DiGeorge Syndrome / Q000235:genetics*; D004423:Ear / Q000196:embryology; D004707:Endoderm / Q000378:metabolism; D006801:Humans; D008648:Mesoderm / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D017384:Sequence Deletion; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism; D015027:Zebrafish / Q000378:metabolism*
chemical_list: D020825:T-Box Domain Proteins; C108625:TBX1 protein, human