Dept. of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, MCLM 338, 1918 University Dr. Birmingham, AL, 35294, USA.
Dept. of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, MCLM 338, 1918 University Dr. Birmingham, AL, 35294, USA.
Dev Biol. 2020 Jul 15;463(2):169-181. doi: 10.1016/j.ydbio.2020.05.012. Epub 2020 Jun 2.
The transcription factor Hypermethylated in Cancer 1 (HIC1) is associated with both tumorigenesis and the complex human developmental disorder Miller-Dieker Syndrome. While many studies have characterized HIC1 as a tumor suppressor, HIC1 function in development is less understood. Loss-of-function mouse alleles show embryonic lethality accompanied with developmental defects, including craniofacial abnormalities that are reminiscent of human Miller-Dieker Syndrome patients. However, the tissue origin of the defects has not been reported. In this study, we use the power of the Xenopus laevis model system to explore Hic1 function in early development. We show that hic1 mRNA is expressed throughout early Xenopus development and has a spatial distribution within the neural plate border and in migrating neural crest cells in branchial arches. Targeted manipulation of hic1 levels in the dorsal ectoderm that gives rise to neural and neural crest tissues reveals that both overexpression and knockdown of hic1 result in craniofacial defects with malformations of the craniofacial cartilages. Neural crest specification is not affected by altered hic1 levels, but migration of the cranial neural crest is impaired both in vivo and in tissue explants. Mechanistically, we find that Hic1 regulates cadherin expression profiles and canonical Wnt signaling. Taken together, these results identify Hic1 as a novel regulator of the canonical Wnt pathway during neural crest migration.
抑癌基因转录因子 Hypermethylated in Cancer 1(HIC1)与肿瘤发生和复杂的人类发育障碍 Miller-Dieker 综合征有关。虽然许多研究将 HIC1 描述为肿瘤抑制因子,但 HIC1 在发育中的功能了解较少。功能丧失型小鼠等位基因表现出胚胎致死性,并伴有发育缺陷,包括颅面异常,使人联想到人类 Miller-Dieker 综合征患者。然而,尚未报道缺陷的组织起源。在这项研究中,我们利用非洲爪蟾模型系统的强大功能来探索 Hic1 在早期发育中的功能。我们表明 hic1 mRNA 在整个早期非洲爪蟾发育过程中表达,并在神经板边界和鳃弓中的迁移神经嵴细胞中具有空间分布。靶向改变背外胚层中的 hic1 水平,该外胚层产生神经和神经嵴组织,结果表明 hic1 的过表达和敲低均导致颅面缺陷,颅面软骨畸形。改变 hic1 水平不会影响神经嵴的特化,但颅神经嵴的迁移在体内和组织外植体中均受到损害。从机制上讲,我们发现 Hic1 调节钙粘蛋白表达谱和经典 Wnt 信号通路。总之,这些结果表明 Hic1 是神经嵴迁移过程中经典 Wnt 途径的新型调节剂。