ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus.
ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus.
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ARVCF 缺失与 Tbx1 缺陷共同促进非洲爪蟾 22q11.2DS 样表型的发育。
DOI：
10.1002/dvdy.22765
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发表时间：
2011
期刊：
影响因子：
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通讯作者：
Vleminckx,Kris
中科院分区：
文献类型：
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作者：
Tran,HongThi;Delvaeye,Mieke;Verschuere,Veerle;Descamps,Emilie;Crabbe,Ellen;VanHoorebeke,Luc;McCrea,Pierre;Adriaens,Dominique;VanRoy,Frans;Vleminckx,Kris
22q11.2缺失综合征是一种常见的显性遗传性疾病，其特征是染色体22q11.2上的一组基因的杂合性缺失。TBX1是属于T-box基因家族的转录因子，是该综合征的关键参与者。然而，小鼠模型中Tbx1的杂合性并不能完全概括该疾病的表型特征，这可能表明缺失的染色体区域中还涉及其他基因。因此，我们研究了 cateninARVCF（22q11.2DS 中删除的另一个基因）的贡献。在爪蟾发育过程中，ARVCF mRNA 在咽弓中表达，耗尽 ARVCF 或 Tbx1 会导致颅神经嵴细胞迁移延迟以及颅面骨骼和主动脉弓缺陷。此外，ARVCF 和 Tbx1 的双重耗尽表明它们协同作用，表明 ARVCF 水平降低也可能导致 22q11.2DS 相关表型。发展动态 240:2680–2687, 2011。© 2011 Wiley periodicals, Inc.
The 22q11.2 deletion syndrome is a common dominant genetic disorder characterized by a heterozygous deletion of a cluster of genes on chromosome 22q11.2.TBX1, a transcription factor belonging to the T‐box gene family, is a key player in the syndrome. However, heterozygosity ofTbx1in mouse models does not fully recapitulate the phenotypes characteristic of the disease, which may point to the involvement of other genes in the deleted chromosomal region. Hence, we investigated the contribution of the cateninARVCF, another gene that is deleted in 22q11.2DS. DuringXenopusdevelopment, ARVCF mRNA is expressed in the pharyngeal arches and depleting either ARVCF or Tbx1 results in delayed migration of the cranial neural crest cells and in defects in the craniofacial skeleton and aortic arches. Moreover, double depletion of ARVCF and Tbx1 revealed that they act cooperatively, indicating that decreased ARVCF levels may also contribute to 22q11.2DS‐associated phenotypes. Developmental Dynamics 240:2680–2687, 2011. © 2011 Wiley Periodicals, Inc.