The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans
The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans
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DOI：
10.1242/dev.00704
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发表时间：
2003-10-01
期刊：
影响因子：
4.6
通讯作者：
Ho, RK
中科院分区：
文献类型：
--
作者：
Piotrowski, T;Ahn, DG;Ho, RK
斑马鱼的货车高（vgo）突变体的特征是耳朵、咽弓和相关结构如胸腺的缺陷。我们表明，vgo是由tbx 1，T-box基因大家族的成员突变引起的。tbx 1最近被认为是人类DiGeorge缺失综合征（DGS）中心血管缺陷的主要原因，DGS是一种在咽弓中影响几个神经嵴衍生物的综合征。利用细胞移植研究，我们证明vgo/tbx 1在咽中内胚层中自主地作用于细胞，并继发地影响神经嵴衍生软骨的发育。此外，我们提供的证据vgo/tbx 1和edn 1和hand 2，基因之间的相互作用，涉及控制咽弓的发展和DGS的病因。
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.